Tijdlijn
Elke verandering die de pipeline opmerkte, nieuwste eerst: toegevoegde documenten, bronnen van wie de tekst veranderde, gecreëerde of versterkte inzichten. Dit is het audit-spur achter “wat is nieuw”.
2026-11-14 (359 gebeurtenissen)
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
inzicht toegevoegd
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
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2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-14 16:44 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
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2026-11-14 16:44 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-14 16:44 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
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2026-11-14 16:44 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-14 16:44 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
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2026-11-14 16:44 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-14 16:44 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
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2026-11-14 16:44 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-14 16:44 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
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2026-11-14 16:44 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-14 16:44 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
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2026-11-14 16:44 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-14 16:44 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
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2026-11-14 16:44 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-14 16:44 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
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2026-11-14 16:44 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-14 16:44 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
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2026-11-14 16:44 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-14 16:44 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
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2026-11-14 16:44 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-14 16:44 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-14 16:44 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-14 16:44 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
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2026-11-14 08:20 Updated: Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
pubmed changed: +376/-0 sentences since the previous capture.
2026-11-14 08:20 Updated: Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
pubmed changed: +376/-0 sentences since the previous capture.
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2026-11-14 07:04 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
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2026-11-14 07:04 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
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2026-11-14 06:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
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2026-11-14 06:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
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2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
Congenital anomalies of kidney and urinary tract Description Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract.
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
Congenital anomalies of kidney and urinary tract Description Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract.
inzicht versterkt
2026-11-14 05:38 HNF1B appears alongside kidney and urinary tract in 273 sources
Onderbouwing gestegen naar 273 documenten
2026-11-14 05:38 HNF1B appears alongside kidney and urinary tract in 273 sources
Onderbouwing gestegen naar 273 documenten
inzicht versterkt
2026-11-14 05:38 HNF1B appears alongside diabetes and metabolism in 243 sources
Onderbouwing gestegen naar 243 documenten
2026-11-14 05:38 HNF1B appears alongside diabetes and metabolism in 243 sources
Onderbouwing gestegen naar 243 documenten
inzicht versterkt
2026-11-14 05:38 HNF1B appears alongside learning, speech and behaviour in 117 sources
Onderbouwing gestegen naar 117 documenten
2026-11-14 05:38 HNF1B appears alongside learning, speech and behaviour in 117 sources
Onderbouwing gestegen naar 117 documenten
inzicht versterkt
2026-11-14 05:38 HNF1B appears alongside genital and müllerian development in 104 sources
Onderbouwing gestegen naar 104 documenten
2026-11-14 05:38 HNF1B appears alongside genital and müllerian development in 104 sources
Onderbouwing gestegen naar 104 documenten
inzicht versterkt
2026-11-14 05:38 HNF1B appears alongside eyes, ears and hearing in 38 sources
Onderbouwing gestegen naar 38 documenten
2026-11-14 05:38 HNF1B appears alongside eyes, ears and hearing in 38 sources
Onderbouwing gestegen naar 38 documenten
inzicht toegevoegd
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
inzicht toegevoegd
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
inzicht toegevoegd
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
inzicht toegevoegd
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
2026-11-14 05:38 Nieuwe waarneming gerapporteerd: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
inzicht versterkt
2026-11-14 05:38 Research discussed in 151 sources
Onderbouwing gestegen naar 151 documenten
2026-11-14 05:38 Research discussed in 151 sources
Onderbouwing gestegen naar 151 documenten
document toegevoegd
2026-11-14 05:38 Clinical and research tests for 6928 - Genetic Testing Registry (GTR) - NCBI
Nieuw article van institutional (relevantie 0.45)
2026-11-14 05:38 Clinical and research tests for 6928 - Genetic Testing Registry (GTR) - NCBI
Nieuw article van institutional (relevantie 0.45)
document toegevoegd
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
2026-11-14 05:38 Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
inzicht toegevoegd
2026-11-14 04:51 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
ALS etiology and prognostic factors are mostly unknown. Metabolic diseases and especially diabetes mellitus (DM) have been variously related to ALS.
2026-11-14 04:51 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
ALS etiology and prognostic factors are mostly unknown. Metabolic diseases and especially diabetes mellitus (DM) have been variously related to ALS.
inzicht toegevoegd
2026-11-14 04:51 Renal cysts and diabetes syndrome
Medical condition Renal cysts and diabetes syndrome ( RCAD ), also known as MODY 5 or HNF1B-MODY , is a form of maturity onset diabetes of the young .
2026-11-14 04:51 Renal cysts and diabetes syndrome
Medical condition Renal cysts and diabetes syndrome ( RCAD ), also known as MODY 5 or HNF1B-MODY , is a form of maturity onset diabetes of the young .
inzicht toegevoegd
2026-11-14 04:51 Updated: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
pubmed changed: +0/-298 sentences since the previous capture.
2026-11-14 04:51 Updated: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
pubmed changed: +0/-298 sentences since the previous capture.
inzicht versterkt
2026-11-14 04:51 HNF1B appears alongside kidney and urinary tract in 271 sources
Onderbouwing gestegen naar 271 documenten
2026-11-14 04:51 HNF1B appears alongside kidney and urinary tract in 271 sources
Onderbouwing gestegen naar 271 documenten
inzicht versterkt
2026-11-14 04:51 HNF1B appears alongside diabetes and metabolism in 241 sources
Onderbouwing gestegen naar 241 documenten
2026-11-14 04:51 HNF1B appears alongside diabetes and metabolism in 241 sources
Onderbouwing gestegen naar 241 documenten
inzicht versterkt
2026-11-14 04:51 HNF1B appears alongside liver and gallbladder in 134 sources
Onderbouwing gestegen naar 134 documenten
2026-11-14 04:51 HNF1B appears alongside liver and gallbladder in 134 sources
Onderbouwing gestegen naar 134 documenten
inzicht versterkt
2026-11-14 04:51 HNF1B appears alongside genital and müllerian development in 103 sources
Onderbouwing gestegen naar 103 documenten
2026-11-14 04:51 HNF1B appears alongside genital and müllerian development in 103 sources
Onderbouwing gestegen naar 103 documenten
inzicht toegevoegd
2026-11-14 04:51 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-14 04:51 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
inzicht toegevoegd
2026-11-14 04:51 DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ]
A source reports “8.5%” in the context of general: “DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ].”
2026-11-14 04:51 DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ]
A source reports “8.5%” in the context of general: “DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ].”
inzicht toegevoegd
2026-11-14 04:51 Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls repor
A source reports “1288 cases” in the context of diabetes metabolic: “Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls reported a protective role of DM...
2026-11-14 04:51 Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls repor
A source reports “1288 cases” in the context of diabetes metabolic: “Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls reported a protective role of DM...
inzicht versterkt
2026-11-14 04:51 Therapy discussed in 142 sources
Onderbouwing gestegen naar 142 documenten
2026-11-14 04:51 Therapy discussed in 142 sources
Onderbouwing gestegen naar 142 documenten
document bijgewerkt
2026-11-14 04:34 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
+0 / -298 sentences
2026-11-14 04:34 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
+0 / -298 sentences
document toegevoegd
2026-11-14 04:17 Renal cysts and diabetes syndrome
Nieuw reference van wikipedia (relevantie 1.0)
2026-11-14 04:17 Renal cysts and diabetes syndrome
Nieuw reference van wikipedia (relevantie 1.0)
inzicht versterkt
2026-11-14 03:51 LHX1 appears alongside kidney and urinary tract in 56 sources
Onderbouwing gestegen naar 56 documenten
2026-11-14 03:51 LHX1 appears alongside kidney and urinary tract in 56 sources
Onderbouwing gestegen naar 56 documenten
inzicht versterkt
2026-11-14 03:51 LHX1 appears alongside genital and müllerian development in 44 sources
Onderbouwing gestegen naar 44 documenten
2026-11-14 03:51 LHX1 appears alongside genital and müllerian development in 44 sources
Onderbouwing gestegen naar 44 documenten
inzicht versterkt
2026-11-14 03:51 LHX1 appears alongside growth, gut and nutrition in 19 sources
Onderbouwing gestegen naar 19 documenten
2026-11-14 03:51 LHX1 appears alongside growth, gut and nutrition in 19 sources
Onderbouwing gestegen naar 19 documenten
inzicht toegevoegd
2026-11-14 03:51 LHX1 appears alongside tumour risk in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with tumour risk in 11 independent documents (of 66 documents mentioning LHX1 and 133 mentioning tumour risk). Association strength 0.08.
2026-11-14 03:51 LHX1 appears alongside tumour risk in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with tumour risk in 11 independent documents (of 66 documents mentioning LHX1 and 133 mentioning tumour risk). Association strength 0.08.
inzicht toegevoegd
2026-11-14 03:51 Nieuwe waarneming gerapporteerd: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
2026-11-14 03:51 Nieuwe waarneming gerapporteerd: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and...
inzicht toegevoegd
2026-11-14 03:51 Nieuwe waarneming gerapporteerd: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
2026-11-14 03:51 Nieuwe waarneming gerapporteerd: Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its …
A source describes a new or expanded observation: “Although initially believed to be associated with the disease [ 30 ], emerging evidence [ 31 ] has led to its reclassification as a gene with 'disputed' association...
inzicht toegevoegd
2026-11-14 03:51 Nieuwe waarneming gerapporteerd: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
2026-11-14 03:51 Nieuwe waarneming gerapporteerd: (April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" …
A source describes a new or expanded observation: “(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”
inzicht toegevoegd
2026-11-14 03:51 Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64
A source reports “64%” in the context of kidney: “Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64% of patients [ 9 ].”
2026-11-14 03:51 Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64
A source reports “64%” in the context of kidney: “Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64% of patients [ 9 ].”
inzicht toegevoegd
2026-11-14 03:51 Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenot
A source reports “1.5%” in the context of kidney: “Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenotype in ∼1.5% of patients [ 10 ].”
2026-11-14 03:51 Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenot
A source reports “1.5%” in the context of kidney: “Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenotype in ∼1.5% of patients [ 10 ].”
inzicht toegevoegd
2026-11-14 03:51 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling.
2026-11-14 03:51 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling.
inzicht toegevoegd
2026-11-14 03:51 LHX1
Protein-coding gene in the species Homo sapiens LIM homeobox 1 also known as Lim-1 is a protein that in humans is encoded by the LHX1 gene .
2026-11-14 03:51 LHX1
Protein-coding gene in the species Homo sapiens LIM homeobox 1 also known as Lim-1 is a protein that in humans is encoded by the LHX1 gene .
inzicht toegevoegd
2026-11-14 03:51 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
Kidney organoids made from pluripotent stem cells have the potential to revolutionize how kidney development, disease, and injury are studied.
2026-11-14 03:51 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
Kidney organoids made from pluripotent stem cells have the potential to revolutionize how kidney development, disease, and injury are studied.
document bijgewerkt
2026-11-14 03:14 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+0 / -0 sentences
2026-11-14 03:14 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+0 / -0 sentences
document toegevoegd
2026-11-14 03:08 LHX1
Nieuw reference van wikipedia (relevantie 0.847)
2026-11-14 03:08 LHX1
Nieuw reference van wikipedia (relevantie 0.847)
document bijgewerkt
2026-11-14 03:04 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -0 sentences
2026-11-14 03:04 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -0 sentences
document bijgewerkt
2026-11-14 02:40 17q12 Recurrent Deletion Syndrome in Childhood
+0 / -0 sentences
2026-11-14 02:40 17q12 Recurrent Deletion Syndrome in Childhood
+0 / -0 sentences
document bijgewerkt
2026-11-14 02:40 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+0 / -0 sentences
2026-11-14 02:40 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+0 / -0 sentences
document bijgewerkt
2026-11-14 02:37 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+0 / -0 sentences
2026-11-14 02:37 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+0 / -0 sentences
document bijgewerkt
2026-11-14 02:36 Genetics of CAKUT
+0 / -0 sentences
2026-11-14 02:36 Genetics of CAKUT
+0 / -0 sentences
document bijgewerkt
2026-11-14 02:30 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+2 / -43 sentences
2026-11-14 02:30 Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
+2 / -43 sentences
document bijgewerkt
2026-11-14 02:21 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -223 sentences
2026-11-14 02:21 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
+0 / -223 sentences
document bijgewerkt
2026-11-14 01:55 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+162 / -8 sentences
2026-11-14 01:55 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+162 / -8 sentences
document bijgewerkt
2026-11-14 01:55 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+406 / -8 sentences
2026-11-14 01:55 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+406 / -8 sentences
document bijgewerkt
2026-11-14 01:55 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+233 / -7 sentences
2026-11-14 01:55 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+233 / -7 sentences
document bijgewerkt
2026-11-14 01:54 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+520 / -13 sentences
2026-11-14 01:54 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+520 / -13 sentences
document bijgewerkt
2026-11-14 01:54 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+799 / -3 sentences
2026-11-14 01:54 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+799 / -3 sentences
inzicht toegevoegd
2026-11-14 01:38 17q12 Recurrent Deletion Syndrome in Childhood
Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability.
2026-11-14 01:38 17q12 Recurrent Deletion Syndrome in Childhood
Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability.
inzicht toegevoegd
2026-11-14 01:38 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
Hepatocyte nuclear factor 1β ( HNF1β )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems.
2026-11-14 01:38 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
Hepatocyte nuclear factor 1β ( HNF1β )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems.
inzicht toegevoegd
2026-11-14 01:38 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Introduction In South Korea, low‐resolution chromosomal microarray analysis (LR‐CMA) is frequently used as a screening tool to identify chromosomal anomalies in asymptomatic newborns.
2026-11-14 01:38 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Introduction In South Korea, low‐resolution chromosomal microarray analysis (LR‐CMA) is frequently used as a screening tool to identify chromosomal anomalies in asymptomatic newborns.
inzicht toegevoegd
2026-11-14 01:38 Genetics of CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide.
2026-11-14 01:38 Genetics of CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide.
inzicht toegevoegd
2026-11-14 01:38 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2666-5778 6 2 2026 May AJOG global reports AJOG Glob Rep Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2026-11-14 01:38 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2666-5778 6 2 2026 May AJOG global reports AJOG Glob Rep Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
inzicht toegevoegd
2026-11-14 01:38 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2296-858X 13 2026 Frontiers in medicine Front Med (Lausanne) 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2026-11-14 01:38 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2296-858X 13 2026 Frontiers in medicine Front Med (Lausanne) 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
inzicht toegevoegd
2026-11-14 01:38 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2296-2360 14 2026 Frontiers in pediatrics Front Pediatr Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2026-11-14 01:38 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
2296-2360 14 2026 Frontiers in pediatrics Front Pediatr Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
inzicht toegevoegd
2026-11-14 01:38 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
1664-2392 17 2026 Frontiers in endocrinology Front Endocrinol (Lausanne) A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
2026-11-14 01:38 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
1664-2392 17 2026 Frontiers in endocrinology Front Endocrinol (Lausanne) A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
inzicht toegevoegd
2026-11-14 01:38 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
2048-8505 19 7 2026 Jul Clinical kidney journal Clin Kidney J HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges. sfag185 sfag185 sfag185 10.1093/ckj/sfag185...
2026-11-14 01:38 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
2048-8505 19 7 2026 Jul Clinical kidney journal Clin Kidney J HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges. sfag185 sfag185 sfag185 10.1093/ckj/sfag185...
inzicht toegevoegd
2026-11-14 01:38 Updated: 17q12 Recurrent Deletion Syndrome in Childhood
pmc changed: +3/-90 sentences since the previous capture.
2026-11-14 01:38 Updated: 17q12 Recurrent Deletion Syndrome in Childhood
pmc changed: +3/-90 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
pmc changed: +4/-28 sentences since the previous capture.
2026-11-14 01:38 Updated: Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
pmc changed: +4/-28 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
pmc changed: +17/-42 sentences since the previous capture.
2026-11-14 01:38 Updated: Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
pmc changed: +17/-42 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: Genetics of CAKUT
pmc changed: +1/-59 sentences since the previous capture.
2026-11-14 01:38 Updated: Genetics of CAKUT
pmc changed: +1/-59 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia duri
pubmed changed: +3/-8 sentences since the previous capture.
2026-11-14 01:38 Updated: Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia duri
pubmed changed: +3/-8 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
pubmed changed: +2/-8 sentences since the previous capture.
2026-11-14 01:38 Updated: 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
pubmed changed: +2/-8 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center ret
pubmed changed: +3/-7 sentences since the previous capture.
2026-11-14 01:38 Updated: Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center ret
pubmed changed: +3/-7 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
pubmed changed: +2/-13 sentences since the previous capture.
2026-11-14 01:38 Updated: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
pubmed changed: +2/-13 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Updated: HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
pubmed changed: +3/-3 sentences since the previous capture.
2026-11-14 01:38 Updated: HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
pubmed changed: +3/-3 sentences since the previous capture.
inzicht toegevoegd
2026-11-14 01:38 Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 indiv
A source reports “075 individuals” in the context of neurodevelopment: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
2026-11-14 01:38 Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 indiv
A source reports “075 individuals” in the context of neurodevelopment: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
inzicht toegevoegd
2026-11-14 01:38 The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospe
A source reports “13.3%” in the context of mullerian gu: “The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospermia, epididymal cysts, and epididymal...
2026-11-14 01:38 The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospe
A source reports “13.3%” in the context of mullerian gu: “The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospermia, epididymal cysts, and epididymal...
inzicht toegevoegd
2026-11-14 01:38 18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotr
A source reports “18 Patients” in the context of hepatic: “18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotransferase and γ-glutamyl transferase,...
2026-11-14 01:38 18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotr
A source reports “18 Patients” in the context of hepatic: “18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotransferase and γ-glutamyl transferase,...
inzicht toegevoegd
2026-11-14 01:38 Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), ab
A source reports “12.1%” in the context of kidney: “Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), abnormal amniotic fluid levels ( n = 3),...
2026-11-14 01:38 Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), ab
A source reports “12.1%” in the context of kidney: “Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), abnormal amniotic fluid levels ( n = 3),...
inzicht toegevoegd
2026-11-14 01:38 At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly
A source reports “3.0%” in the context of neurodevelopment: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
2026-11-14 01:38 At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly
A source reports “3.0%” in the context of neurodevelopment: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
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2026-11-14 01:38 While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity sugge
A source reports “0.015%” in the context of general: “While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity suggest that not all carriers will manifest...
2026-11-14 01:38 While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity sugge
A source reports “0.015%” in the context of general: “While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity suggest that not all carriers will manifest...
inzicht toegevoegd
2026-11-14 01:38 Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity
A source reports “6 %” in the context of cardiac: “Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity (neurocognitive, cardiac).”
2026-11-14 01:38 Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity
A source reports “6 %” in the context of cardiac: “Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity (neurocognitive, cardiac).”
document bijgewerkt
2026-11-14 01:37 17q12 Recurrent Deletion Syndrome in Childhood
+3 / -90 sentences
2026-11-14 01:37 17q12 Recurrent Deletion Syndrome in Childhood
+3 / -90 sentences
document bijgewerkt
2026-11-14 01:36 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+4 / -28 sentences
2026-11-14 01:36 Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
+4 / -28 sentences
document bijgewerkt
2026-11-14 01:32 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+17 / -42 sentences
2026-11-14 01:32 Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
+17 / -42 sentences
document bijgewerkt
2026-11-14 01:32 Genetics of CAKUT
+1 / -59 sentences
2026-11-14 01:32 Genetics of CAKUT
+1 / -59 sentences
document bijgewerkt
2026-11-14 00:53 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+3 / -8 sentences
2026-11-14 00:53 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
+3 / -8 sentences
document bijgewerkt
2026-11-14 00:53 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+2 / -8 sentences
2026-11-14 00:53 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
+2 / -8 sentences
document bijgewerkt
2026-11-14 00:53 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+3 / -7 sentences
2026-11-14 00:53 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
+3 / -7 sentences
document bijgewerkt
2026-11-14 00:53 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+2 / -13 sentences
2026-11-14 00:53 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
+2 / -13 sentences
document bijgewerkt
2026-11-14 00:52 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+3 / -3 sentences
2026-11-14 00:52 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges.
+3 / -3 sentences
inzicht toegevoegd
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
17q12 deletion syndrome Description 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell.
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
17q12 deletion syndrome Description 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell.
inzicht toegevoegd
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
Maturity-onset diabetes of the young Description Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
Maturity-onset diabetes of the young Description Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.
inzicht toegevoegd
2026-11-14 00:51 FAQs – 17q12 Patient Registry
The purpose of the 17q12 Patient Registry is to bring the chromosome 17q12 deletion and duplication syndrome community together and collect data.
2026-11-14 00:51 FAQs – 17q12 Patient Registry
The purpose of the 17q12 Patient Registry is to bring the chromosome 17q12 deletion and duplication syndrome community together and collect data.
inzicht versterkt
2026-11-14 00:51 HNF1B appears alongside kidney and urinary tract in 270 sources
Onderbouwing gestegen naar 270 documenten
2026-11-14 00:51 HNF1B appears alongside kidney and urinary tract in 270 sources
Onderbouwing gestegen naar 270 documenten
inzicht versterkt
2026-11-14 00:51 HNF1B appears alongside diabetes and metabolism in 240 sources
Onderbouwing gestegen naar 240 documenten
2026-11-14 00:51 HNF1B appears alongside diabetes and metabolism in 240 sources
Onderbouwing gestegen naar 240 documenten
inzicht versterkt
2026-11-14 00:51 HNF1B appears alongside liver and gallbladder in 133 sources
Onderbouwing gestegen naar 133 documenten
2026-11-14 00:51 HNF1B appears alongside liver and gallbladder in 133 sources
Onderbouwing gestegen naar 133 documenten
inzicht versterkt
2026-11-14 00:51 HNF1B appears alongside learning, speech and behaviour in 115 sources
Onderbouwing gestegen naar 115 documenten
2026-11-14 00:51 HNF1B appears alongside learning, speech and behaviour in 115 sources
Onderbouwing gestegen naar 115 documenten
inzicht versterkt
2026-11-14 00:51 HNF1B appears alongside genital and müllerian development in 102 sources
Onderbouwing gestegen naar 102 documenten
2026-11-14 00:51 HNF1B appears alongside genital and müllerian development in 102 sources
Onderbouwing gestegen naar 102 documenten
inzicht versterkt
2026-11-14 00:51 LHX1 appears alongside kidney and urinary tract in 55 sources
Onderbouwing gestegen naar 55 documenten
2026-11-14 00:51 LHX1 appears alongside kidney and urinary tract in 55 sources
Onderbouwing gestegen naar 55 documenten
inzicht versterkt
2026-11-14 00:51 LHX1 appears alongside genital and müllerian development in 43 sources
Onderbouwing gestegen naar 43 documenten
2026-11-14 00:51 LHX1 appears alongside genital and müllerian development in 43 sources
Onderbouwing gestegen naar 43 documenten
inzicht versterkt
2026-11-14 00:51 LHX1 appears alongside diabetes and metabolism in 39 sources
Onderbouwing gestegen naar 39 documenten
2026-11-14 00:51 LHX1 appears alongside diabetes and metabolism in 39 sources
Onderbouwing gestegen naar 39 documenten
inzicht versterkt
2026-11-14 00:51 HNF1B appears alongside eyes, ears and hearing in 37 sources
Onderbouwing gestegen naar 37 documenten
2026-11-14 00:51 HNF1B appears alongside eyes, ears and hearing in 37 sources
Onderbouwing gestegen naar 37 documenten
inzicht versterkt
2026-11-14 00:51 LHX1 appears alongside learning, speech and behaviour in 37 sources
Onderbouwing gestegen naar 37 documenten
2026-11-14 00:51 LHX1 appears alongside learning, speech and behaviour in 37 sources
Onderbouwing gestegen naar 37 documenten
inzicht versterkt
2026-11-14 00:51 LHX1 appears alongside liver and gallbladder in 28 sources
Onderbouwing gestegen naar 28 documenten
2026-11-14 00:51 LHX1 appears alongside liver and gallbladder in 28 sources
Onderbouwing gestegen naar 28 documenten
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
inzicht toegevoegd
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
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2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-14 00:51 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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2026-11-14 00:51 The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MO
A source reports “70 percent” in the context of diabetes metabolic: “The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MODY2), accounting for 30 to...
2026-11-14 00:51 The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MO
A source reports “70 percent” in the context of diabetes metabolic: “The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MODY2), accounting for 30 to...
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2026-11-14 00:51 Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY
A source reports “10 percent” in the context of kidney: “Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to...
2026-11-14 00:51 Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY
A source reports “10 percent” in the context of kidney: “Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to...
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2026-11-14 00:51 Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes
A source reports “3 percent” in the context of diabetes metabolic: “Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes.”
2026-11-14 00:51 Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes
A source reports “3 percent” in the context of diabetes metabolic: “Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes.”
inzicht versterkt
2026-11-14 00:51 Research discussed in 150 sources
Onderbouwing gestegen naar 150 documenten
2026-11-14 00:51 Research discussed in 150 sources
Onderbouwing gestegen naar 150 documenten
inzicht versterkt
2026-11-14 00:51 Therapy discussed in 141 sources
Onderbouwing gestegen naar 141 documenten
2026-11-14 00:51 Therapy discussed in 141 sources
Onderbouwing gestegen naar 141 documenten
inzicht toegevoegd
2026-11-14 00:51 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-14 00:51 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
inzicht toegevoegd
2026-11-14 00:51 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-14 00:51 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
inzicht toegevoegd
2026-11-14 00:51 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-14 00:51 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
inzicht toegevoegd
2026-11-14 00:51 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-14 00:51 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
inzicht toegevoegd
2026-11-14 00:51 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-14 00:51 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
inzicht toegevoegd
2026-11-14 00:51 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-14 00:51 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
inzicht toegevoegd
2026-11-14 00:51 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-14 00:51 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
inzicht toegevoegd
2026-11-14 00:51 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-14 00:51 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
inzicht toegevoegd
2026-11-14 00:51 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-14 00:51 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
inzicht toegevoegd
2026-11-14 00:51 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-14 00:51 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-14 00:51 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-14 00:51 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document toegevoegd
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
2026-11-14 00:51 17q12 deletion syndrome: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
document toegevoegd
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
2026-11-14 00:51 Maturity-onset diabetes of the young: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
document toegevoegd
2026-11-14 00:49 FAQs – 17q12 Patient Registry
Nieuw case_report van patient_org (relevantie 1.0)
2026-11-14 00:49 FAQs – 17q12 Patient Registry
Nieuw case_report van patient_org (relevantie 1.0)
2026-11-13 (1275 gebeurtenissen)
inzicht toegevoegd
2026-11-13 23:38 Contact – 17q12 Patient Registry
Institutional Review Board (IRB) An Institutional Review Board, for the purpose of protecting your/the Study Participant's rights, has reviewed this registry.
2026-11-13 23:38 Contact – 17q12 Patient Registry
Institutional Review Board (IRB) An Institutional Review Board, for the purpose of protecting your/the Study Participant's rights, has reviewed this registry.
inzicht toegevoegd
2026-11-13 23:38 News – 17q12 Patient Registry
The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
2026-11-13 23:38 News – 17q12 Patient Registry
The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
inzicht toegevoegd
2026-11-13 23:38 How To Register – 17q12 Patient Registry
How To Register – 17q12 Patient Registry
2026-11-13 23:38 How To Register – 17q12 Patient Registry
How To Register – 17q12 Patient Registry
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2026-11-13 23:38 For Reseachers – 17q12 Patient Registry
For Researchers 17q12 Patient Registry For Researchers The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal...
2026-11-13 23:38 For Reseachers – 17q12 Patient Registry
For Researchers 17q12 Patient Registry For Researchers The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
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2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
inzicht toegevoegd
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 23:38 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht versterkt
2026-11-13 23:38 Research discussed in 149 sources
Onderbouwing gestegen naar 149 documenten
2026-11-13 23:38 Research discussed in 149 sources
Onderbouwing gestegen naar 149 documenten
inzicht toegevoegd
2026-11-13 23:38 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 23:38 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
inzicht toegevoegd
2026-11-13 23:38 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 23:38 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
inzicht toegevoegd
2026-11-13 23:38 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 23:38 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
inzicht toegevoegd
2026-11-13 23:38 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 23:38 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
inzicht toegevoegd
2026-11-13 23:38 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 23:38 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
inzicht toegevoegd
2026-11-13 23:38 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 23:38 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
inzicht toegevoegd
2026-11-13 23:38 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 23:38 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
inzicht toegevoegd
2026-11-13 23:38 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 23:38 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
inzicht toegevoegd
2026-11-13 23:38 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 23:38 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
inzicht toegevoegd
2026-11-13 23:38 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 23:38 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-13 23:38 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 23:38 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document toegevoegd
2026-11-13 23:37 Contact – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 23:37 Contact – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 23:37 News – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 23:37 News – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 23:37 How To Register – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 23:37 How To Register – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 23:37 For Reseachers – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 23:37 For Reseachers – 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
inzicht toegevoegd
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
inzicht toegevoegd
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
2026-11-13 21:06 17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
inzicht toegevoegd
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
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2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 21:06 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht versterkt
2026-11-13 21:06 Research discussed in 145 sources
Onderbouwing gestegen naar 145 documenten
2026-11-13 21:06 Research discussed in 145 sources
Onderbouwing gestegen naar 145 documenten
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2026-11-13 21:06 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 21:06 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
inzicht toegevoegd
2026-11-13 21:06 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 21:06 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
inzicht toegevoegd
2026-11-13 21:06 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 21:06 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
inzicht toegevoegd
2026-11-13 21:06 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 21:06 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
inzicht toegevoegd
2026-11-13 21:06 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 21:06 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
inzicht toegevoegd
2026-11-13 21:06 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 21:06 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
inzicht toegevoegd
2026-11-13 21:06 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 21:06 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
inzicht toegevoegd
2026-11-13 21:06 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 21:06 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
inzicht toegevoegd
2026-11-13 21:06 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 21:06 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
inzicht toegevoegd
2026-11-13 21:06 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 21:06 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-13 21:06 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 21:06 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document toegevoegd
2026-11-13 21:06 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 21:06 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 21:06 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 21:06 17q12 Patient Registry
Nieuw community van patient_org (relevantie 1.0)
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht toegevoegd
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
inzicht toegevoegd
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
inzicht toegevoegd
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
inzicht toegevoegd
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
inzicht toegevoegd
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
inzicht toegevoegd
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
inzicht toegevoegd
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
inzicht toegevoegd
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
inzicht toegevoegd
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
inzicht toegevoegd
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
inzicht toegevoegd
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
inzicht toegevoegd
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
2026-11-13 19:42 Patient Organizations - National Organization for Rare Disorders
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
inzicht toegevoegd
2026-11-13 19:42 17q12 microdeletions (rarechromo.org patient leaflet)
17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of the body's chromosomes has been lost or deleted.
2026-11-13 19:42 17q12 microdeletions (rarechromo.org patient leaflet)
17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of the body's chromosomes has been lost or deleted.
inzicht toegevoegd
2026-11-13 19:42 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
2026-11-13 19:42 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
inzicht toegevoegd
2026-11-13 19:42 HNF1B gene: MedlinePlus Genetics
HNF1B gene HNF1 homeobox B Normal Function The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β).
2026-11-13 19:42 HNF1B gene: MedlinePlus Genetics
HNF1B gene HNF1 homeobox B Normal Function The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β).
inzicht toegevoegd
2026-11-13 19:42 For Patients – 17q12 Patient Registry
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
2026-11-13 19:42 For Patients – 17q12 Patient Registry
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
inzicht toegevoegd
2026-11-13 19:42 17q12 Foundation - National Organization for Rare Disorders
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in...
2026-11-13 19:42 17q12 Foundation - National Organization for Rare Disorders
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in...
inzicht toegevoegd
2026-11-13 19:42 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
2026-11-13 19:42 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside kidney and urinary tract in 268 sources
Onderbouwing gestegen naar 268 documenten
2026-11-13 19:42 HNF1B appears alongside kidney and urinary tract in 268 sources
Onderbouwing gestegen naar 268 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside diabetes and metabolism in 238 sources
Onderbouwing gestegen naar 238 documenten
2026-11-13 19:42 HNF1B appears alongside diabetes and metabolism in 238 sources
Onderbouwing gestegen naar 238 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside liver and gallbladder in 131 sources
Onderbouwing gestegen naar 131 documenten
2026-11-13 19:42 HNF1B appears alongside liver and gallbladder in 131 sources
Onderbouwing gestegen naar 131 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside learning, speech and behaviour in 114 sources
Onderbouwing gestegen naar 114 documenten
2026-11-13 19:42 HNF1B appears alongside learning, speech and behaviour in 114 sources
Onderbouwing gestegen naar 114 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside genital and müllerian development in 101 sources
Onderbouwing gestegen naar 101 documenten
2026-11-13 19:42 HNF1B appears alongside genital and müllerian development in 101 sources
Onderbouwing gestegen naar 101 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside growth, gut and nutrition in 74 sources
Onderbouwing gestegen naar 74 documenten
2026-11-13 19:42 HNF1B appears alongside growth, gut and nutrition in 74 sources
Onderbouwing gestegen naar 74 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside tumour risk in 59 sources
Onderbouwing gestegen naar 59 documenten
2026-11-13 19:42 HNF1B appears alongside tumour risk in 59 sources
Onderbouwing gestegen naar 59 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside kidney and urinary tract in 54 sources
Onderbouwing gestegen naar 54 documenten
2026-11-13 19:42 LHX1 appears alongside kidney and urinary tract in 54 sources
Onderbouwing gestegen naar 54 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside genital and müllerian development in 42 sources
Onderbouwing gestegen naar 42 documenten
2026-11-13 19:42 LHX1 appears alongside genital and müllerian development in 42 sources
Onderbouwing gestegen naar 42 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside skeleton and limbs in 40 sources
Onderbouwing gestegen naar 40 documenten
2026-11-13 19:42 HNF1B appears alongside skeleton and limbs in 40 sources
Onderbouwing gestegen naar 40 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside diabetes and metabolism in 38 sources
Onderbouwing gestegen naar 38 documenten
2026-11-13 19:42 LHX1 appears alongside diabetes and metabolism in 38 sources
Onderbouwing gestegen naar 38 documenten
inzicht versterkt
2026-11-13 19:42 HNF1B appears alongside eyes, ears and hearing in 36 sources
Onderbouwing gestegen naar 36 documenten
2026-11-13 19:42 HNF1B appears alongside eyes, ears and hearing in 36 sources
Onderbouwing gestegen naar 36 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside learning, speech and behaviour in 36 sources
Onderbouwing gestegen naar 36 documenten
2026-11-13 19:42 LHX1 appears alongside learning, speech and behaviour in 36 sources
Onderbouwing gestegen naar 36 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside liver and gallbladder in 27 sources
Onderbouwing gestegen naar 27 documenten
2026-11-13 19:42 LHX1 appears alongside liver and gallbladder in 27 sources
Onderbouwing gestegen naar 27 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside skeleton and limbs in 22 sources
Onderbouwing gestegen naar 22 documenten
2026-11-13 19:42 LHX1 appears alongside skeleton and limbs in 22 sources
Onderbouwing gestegen naar 22 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside growth, gut and nutrition in 18 sources
Onderbouwing gestegen naar 18 documenten
2026-11-13 19:42 LHX1 appears alongside growth, gut and nutrition in 18 sources
Onderbouwing gestegen naar 18 documenten
inzicht versterkt
2026-11-13 19:42 LHX1 appears alongside eyes, ears and hearing in 12 sources
Onderbouwing gestegen naar 12 documenten
2026-11-13 19:42 LHX1 appears alongside eyes, ears and hearing in 12 sources
Onderbouwing gestegen naar 12 documenten
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
inzicht toegevoegd
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 19:42 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
inzicht toegevoegd
2026-11-13 19:42 In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion
A source reports “63 cases” in the context of mullerian gu: “In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion.”
2026-11-13 19:42 In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion
A source reports “63 cases” in the context of mullerian gu: “In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion.”
inzicht versterkt
2026-11-13 19:42 Surveillance discussed in 307 sources
Onderbouwing gestegen naar 307 documenten
2026-11-13 19:42 Surveillance discussed in 307 sources
Onderbouwing gestegen naar 307 documenten
inzicht versterkt
2026-11-13 19:42 Counseling discussed in 207 sources
Onderbouwing gestegen naar 207 documenten
2026-11-13 19:42 Counseling discussed in 207 sources
Onderbouwing gestegen naar 207 documenten
inzicht versterkt
2026-11-13 19:42 Research discussed in 143 sources
Onderbouwing gestegen naar 143 documenten
2026-11-13 19:42 Research discussed in 143 sources
Onderbouwing gestegen naar 143 documenten
inzicht versterkt
2026-11-13 19:42 Therapy discussed in 140 sources
Onderbouwing gestegen naar 140 documenten
2026-11-13 19:42 Therapy discussed in 140 sources
Onderbouwing gestegen naar 140 documenten
inzicht toegevoegd
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 19:42 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
inzicht toegevoegd
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 19:42 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
inzicht toegevoegd
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 19:42 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
inzicht toegevoegd
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 19:42 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
inzicht toegevoegd
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 19:42 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
inzicht toegevoegd
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 19:42 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
inzicht toegevoegd
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 19:42 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
inzicht toegevoegd
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 19:42 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
inzicht toegevoegd
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 19:42 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
inzicht toegevoegd
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 19:42 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 19:42 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
document toegevoegd
2026-11-13 19:39 Patient Organizations - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 19:39 Patient Organizations - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 19:36 Patient Organizations - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 19:36 Patient Organizations - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 19:33 17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 19:33 17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 19:33 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
Nieuw guideline van web (relevantie 1.0)
2026-11-13 19:33 17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
Nieuw guideline van web (relevantie 1.0)
document toegevoegd
2026-11-13 19:33 HNF1B gene: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
2026-11-13 19:33 HNF1B gene: MedlinePlus Genetics
Nieuw article van web (relevantie 1.0)
document toegevoegd
2026-11-13 19:33 For Patients – 17q12 Patient Registry
Nieuw guideline van patient_org (relevantie 1.0)
2026-11-13 19:33 For Patients – 17q12 Patient Registry
Nieuw guideline van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 19:33 17q12 Foundation - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 19:33 17q12 Foundation - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
document toegevoegd
2026-11-13 19:32 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
2026-11-13 19:32 chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
Nieuw community van patient_org (relevantie 1.0)
inzicht versterkt
2026-11-13 13:51 Surveillance discussed in 305 sources
Onderbouwing gestegen naar 305 documenten
2026-11-13 13:51 Surveillance discussed in 305 sources
Onderbouwing gestegen naar 305 documenten
inzicht toegevoegd
2026-11-13 13:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
2026-11-13 13:51 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
inzicht versterkt
2026-11-13 13:51 HNF1B appears alongside kidney and urinary tract in 265 sources
Onderbouwing gestegen naar 265 documenten
2026-11-13 13:51 HNF1B appears alongside kidney and urinary tract in 265 sources
Onderbouwing gestegen naar 265 documenten
inzicht versterkt
2026-11-13 13:51 HNF1B appears alongside diabetes and metabolism in 235 sources
Onderbouwing gestegen naar 235 documenten
2026-11-13 13:51 HNF1B appears alongside diabetes and metabolism in 235 sources
Onderbouwing gestegen naar 235 documenten
inzicht versterkt
2026-11-13 13:51 HNF1B appears alongside growth, gut and nutrition in 73 sources
Onderbouwing gestegen naar 73 documenten
2026-11-13 13:51 HNF1B appears alongside growth, gut and nutrition in 73 sources
Onderbouwing gestegen naar 73 documenten
document toegevoegd
2026-11-13 12:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 12:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Nieuw article van pubmed (relevantie 1.0)
inzicht toegevoegd
2026-11-13 10:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Objective To summarize the etiologies, clinical manifestations, and genetic profiles of children with hypomagnesemia admitted to the Department of Pediatric Endocrinology, Metabolism and Genetics (PEGM).
2026-11-13 10:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Objective To summarize the etiologies, clinical manifestations, and genetic profiles of children with hypomagnesemia admitted to the Department of Pediatric Endocrinology, Metabolism and Genetics (PEGM).
inzicht versterkt
2026-11-13 10:12 HNF1B appears alongside kidney and urinary tract in 264 sources
Onderbouwing gestegen naar 264 documenten
2026-11-13 10:12 HNF1B appears alongside kidney and urinary tract in 264 sources
Onderbouwing gestegen naar 264 documenten
inzicht versterkt
2026-11-13 10:12 HNF1B appears alongside diabetes and metabolism in 234 sources
Onderbouwing gestegen naar 234 documenten
2026-11-13 10:12 HNF1B appears alongside diabetes and metabolism in 234 sources
Onderbouwing gestegen naar 234 documenten
inzicht versterkt
2026-11-13 10:12 HNF1B appears alongside learning, speech and behaviour in 111 sources
Onderbouwing gestegen naar 111 documenten
2026-11-13 10:12 HNF1B appears alongside learning, speech and behaviour in 111 sources
Onderbouwing gestegen naar 111 documenten
inzicht versterkt
2026-11-13 10:12 HNF1B appears alongside genital and müllerian development in 98 sources
Onderbouwing gestegen naar 98 documenten
2026-11-13 10:12 HNF1B appears alongside genital and müllerian development in 98 sources
Onderbouwing gestegen naar 98 documenten
inzicht versterkt
2026-11-13 10:12 HNF1B appears alongside growth, gut and nutrition in 72 sources
Onderbouwing gestegen naar 72 documenten
2026-11-13 10:12 HNF1B appears alongside growth, gut and nutrition in 72 sources
Onderbouwing gestegen naar 72 documenten
inzicht versterkt
2026-11-13 10:12 HNF1B appears alongside the heart in 64 sources
Onderbouwing gestegen naar 64 documenten
2026-11-13 10:12 HNF1B appears alongside the heart in 64 sources
Onderbouwing gestegen naar 64 documenten
inzicht toegevoegd
2026-11-13 10:12 In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%)
A source reports “54.55%” in the context of kidney: “In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%) or detected incidentally (36.36%).”
2026-11-13 10:12 In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%)
A source reports “54.55%” in the context of kidney: “In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%) or detected incidentally (36.36%).”
inzicht toegevoegd
2026-11-13 10:12 Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%
A source reports “50.0%” in the context of diabetes metabolic: “Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%.”
2026-11-13 10:12 Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%
A source reports “50.0%” in the context of diabetes metabolic: “Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%.”
inzicht toegevoegd
2026-11-13 10:12 Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up
A source reports “21.43%” in the context of kidney: “Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up.”
2026-11-13 10:12 Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up
A source reports “21.43%” in the context of kidney: “Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up.”
inzicht toegevoegd
2026-11-13 10:12 Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients
A source reports “39.29%” in the context of kidney: “Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients, especially in those with HNF1B-related MODY.”
2026-11-13 10:12 Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients
A source reports “39.29%” in the context of kidney: “Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients, especially in those with HNF1B-related MODY.”
inzicht toegevoegd
2026-11-13 10:12 2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were id
A source reports “36 patients” in the context of kidney: “2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were identified; of those, 28 patients [15...
2026-11-13 10:12 2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were id
A source reports “36 patients” in the context of kidney: “2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were identified; of those, 28 patients [15...
inzicht toegevoegd
2026-11-13 10:12 The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-1
A source reports “85%” in the context of kidney: “The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-10% in the distal tubule [ 5 ].”
2026-11-13 10:12 The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-1
A source reports “85%” in the context of kidney: “The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-10% in the distal tubule [ 5 ].”
inzicht versterkt
2026-11-13 10:12 Surveillance discussed in 304 sources
Onderbouwing gestegen naar 304 documenten
2026-11-13 10:12 Surveillance discussed in 304 sources
Onderbouwing gestegen naar 304 documenten
inzicht versterkt
2026-11-13 10:12 Counseling discussed in 206 sources
Onderbouwing gestegen naar 206 documenten
2026-11-13 10:12 Counseling discussed in 206 sources
Onderbouwing gestegen naar 206 documenten
inzicht versterkt
2026-11-13 10:12 Therapy discussed in 137 sources
Onderbouwing gestegen naar 137 documenten
2026-11-13 10:12 Therapy discussed in 137 sources
Onderbouwing gestegen naar 137 documenten
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2026-11-13 10:09 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Nieuw article van pmc (relevantie 1.0)
2026-11-13 10:09 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Nieuw article van pmc (relevantie 1.0)
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2026-11-13 09:12 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY Maturity-onset diabetes of the young...
2026-11-13 09:12 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY Maturity-onset diabetes of the young...
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2026-11-13 09:12 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Methods: We designed and evaluated a 28-gene ADPKD-spectrum hybrid-capture panel in a 16-sample, two-configuration pilot using 694 analytical target intervals per sample.
2026-11-13 09:12 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Methods: We designed and evaluated a 28-gene ADPKD-spectrum hybrid-capture panel in a 16-sample, two-configuration pilot using 694 analytical target intervals per sample.
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2026-11-13 09:12 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
OBJECTIVE To characterize the prevalence and penetrance of maturity-onset diabetes of the young (MODY) in a multi-ancestry population using a genotype-first design.
2026-11-13 09:12 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
OBJECTIVE To characterize the prevalence and penetrance of maturity-onset diabetes of the young (MODY) in a multi-ancestry population using a genotype-first design.
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2026-11-13 09:12 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of...
2026-11-13 09:12 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of...
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2026-11-13 09:12 Clinical impact of genetic testing in inherited kidney diseases
Background Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are a clinically heterogeneous subset of chronic kidney disease and rank among the leading causes of kidney...
2026-11-13 09:12 Clinical impact of genetic testing in inherited kidney diseases
Background Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are a clinically heterogeneous subset of chronic kidney disease and rank among the leading causes of kidney...
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2026-11-13 09:12 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient Cystic renal diseases are a complex group of conditions that range in severity from mild
2026-11-13 09:12 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient Cystic renal diseases are a complex group of conditions that range in severity from mild
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2026-11-13 09:12 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review Supplementary Material 1: Supplementary Figure 1.
2026-11-13 09:12 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review Supplementary Material 1: Supplementary Figure 1.
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2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Background Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to...
2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Background Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to...
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2026-11-13 09:12 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 Background Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas,...
2026-11-13 09:12 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 Background Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas,...
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2026-11-13 09:12 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report Introduction: 17q12 deletion features kidney/genital abnormalities,...
2026-11-13 09:12 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report Introduction: 17q12 deletion features kidney/genital abnormalities,...
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2026-11-13 09:12 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice Introduction Maturity-onset diabetes of the young...
2026-11-13 09:12 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice Introduction Maturity-onset diabetes of the young...
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2026-11-13 09:12 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
Background Developmental dyslexia (DD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur and are believed to share genetic risk factors.
2026-11-13 09:12 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
Background Developmental dyslexia (DD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur and are believed to share genetic risk factors.
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2026-11-13 09:12 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as...
2026-11-13 09:12 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as...
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2026-11-13 09:12 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease Advanced prenatal imaging and chromosomal...
2026-11-13 09:12 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease Advanced prenatal imaging and chromosomal...
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2026-11-13 09:12 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom The patient had presented symptoms during preschool years with motor coordination difficulties, deviant reactions to sensory stimuli and separation anxiety.
2026-11-13 09:12 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom The patient had presented symptoms during preschool years with motor coordination difficulties, deviant reactions to sensory stimuli and separation anxiety.
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2026-11-13 09:12 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
2026-11-13 09:12 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
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2026-11-13 09:12 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases.
2026-11-13 09:12 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases.
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2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
Background Fetal polycystic kidney disease (FPDK) is a common ultrasound finding, but its genetic causes vary widely, and data from Yunnan Province are scarce.
2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
Background Fetal polycystic kidney disease (FPDK) is a common ultrasound finding, but its genetic causes vary widely, and data from Yunnan Province are scarce.
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2026-11-13 09:12 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
Objective: To evaluate the prenatal phenotypic spectrum in correlation with chromosomal copy number variations and their pregnancy outcomes.
2026-11-13 09:12 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
Objective: To evaluate the prenatal phenotypic spectrum in correlation with chromosomal copy number variations and their pregnancy outcomes.
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2026-11-13 09:12 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
Primary hypothyroidism is managed with oral levothyroxine (LT4) using a daily dose of 1.5 to 2 µg per kg. Elevated thyroid-stimulating hormone (TSH) despite a high dose of LT4 is a common problem and could be due to...
2026-11-13 09:12 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
Primary hypothyroidism is managed with oral levothyroxine (LT4) using a daily dose of 1.5 to 2 µg per kg. Elevated thyroid-stimulating hormone (TSH) despite a high dose of LT4 is a common problem and could be due to...
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2026-11-13 09:12 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major...
2026-11-13 09:12 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major...
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2026-11-13 09:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study To summarize the etiologies, clinical manifestations, and genetic profiles of children with...
2026-11-13 09:12 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study To summarize the etiologies, clinical manifestations, and genetic profiles of children with...
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2026-11-13 09:12 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
Copy-number variants (CNVs) represent an important source of genetic variation that can influence complex traits and disease risk by altering gene dosage, disrupting coding sequence, or modifying regulatory elements.
2026-11-13 09:12 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
Copy-number variants (CNVs) represent an important source of genetic variation that can influence complex traits and disease risk by altering gene dosage, disrupting coding sequence, or modifying regulatory elements.
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2026-11-13 09:12 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports Introduction: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes characterized by early onset...
2026-11-13 09:12 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports Introduction: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes characterized by early onset...
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2026-11-13 09:12 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes.
2026-11-13 09:12 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes.
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2026-11-13 09:12 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation Interpreting HNF1B variants is challenging in...
2026-11-13 09:12 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation Interpreting HNF1B variants is challenging in...
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2026-11-13 09:12 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing Dear Editor, A 26-year-old woman, G2P1A0, underwent a normal nuchal...
2026-11-13 09:12 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing Dear Editor, A 26-year-old woman, G2P1A0, underwent a normal nuchal...
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2026-11-13 09:12 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a...
2026-11-13 09:12 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a...
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2026-11-13 09:12 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study Background Limited reports have investigated the genetic etiology of fetuses...
2026-11-13 09:12 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study Background Limited reports have investigated the genetic etiology of fetuses...
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2026-11-13 09:12 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes...
2026-11-13 09:12 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes...
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2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review BACKGROUND: Pathogenic variants in the HNF1B gene cause a multi system disorder...
2026-11-13 09:12 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review BACKGROUND: Pathogenic variants in the HNF1B gene cause a multi system disorder...
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2026-11-13 09:12 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
17q12 deletion syndrome presenting with chronic pancreatitis: a case report Introduction: 17q12 deletion syndrome is a rare autosomal dominant disorder classically characterized by renal cystic disease,...
2026-11-13 09:12 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
17q12 deletion syndrome presenting with chronic pancreatitis: a case report Introduction: 17q12 deletion syndrome is a rare autosomal dominant disorder classically characterized by renal cystic disease,...
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2026-11-13 09:12 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report BACKGROUND Renal cysts and diabetes syndrome (RCAD), caused by heterozygous variants or whole-gene deletions in the HNF1B gene, is a rare,...
2026-11-13 09:12 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report BACKGROUND Renal cysts and diabetes syndrome (RCAD), caused by heterozygous variants or whole-gene deletions in the HNF1B gene, is a rare,...
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2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.
2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.
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2026-11-13 09:12 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet
Retraction notice to "Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype" [Eur.
2026-11-13 09:12 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet
Retraction notice to "Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype" [Eur.
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2026-11-13 09:12 HNF1B appears alongside kidney and urinary tract in 263 sources
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2026-11-13 09:12 HNF1B appears alongside kidney and urinary tract in 263 sources
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2026-11-13 09:12 HNF1B appears alongside diabetes and metabolism in 233 sources
Onderbouwing gestegen naar 233 documenten
2026-11-13 09:12 HNF1B appears alongside diabetes and metabolism in 233 sources
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2026-11-13 09:12 HNF1B appears alongside liver and gallbladder in 128 sources
Onderbouwing gestegen naar 128 documenten
2026-11-13 09:12 HNF1B appears alongside liver and gallbladder in 128 sources
Onderbouwing gestegen naar 128 documenten
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2026-11-13 09:12 HNF1B appears alongside learning, speech and behaviour in 110 sources
Onderbouwing gestegen naar 110 documenten
2026-11-13 09:12 HNF1B appears alongside learning, speech and behaviour in 110 sources
Onderbouwing gestegen naar 110 documenten
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2026-11-13 09:12 HNF1B appears alongside genital and müllerian development in 97 sources
Onderbouwing gestegen naar 97 documenten
2026-11-13 09:12 HNF1B appears alongside genital and müllerian development in 97 sources
Onderbouwing gestegen naar 97 documenten
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2026-11-13 09:12 HNF1B appears alongside growth, gut and nutrition in 71 sources
Onderbouwing gestegen naar 71 documenten
2026-11-13 09:12 HNF1B appears alongside growth, gut and nutrition in 71 sources
Onderbouwing gestegen naar 71 documenten
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2026-11-13 09:12 HNF1B appears alongside the heart in 63 sources
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2026-11-13 09:12 HNF1B appears alongside the heart in 63 sources
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2026-11-13 09:12 HNF1B appears alongside tumour risk in 58 sources
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2026-11-13 09:12 HNF1B appears alongside tumour risk in 58 sources
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2026-11-13 09:12 LHX1 appears alongside kidney and urinary tract in 53 sources
Onderbouwing gestegen naar 53 documenten
2026-11-13 09:12 LHX1 appears alongside kidney and urinary tract in 53 sources
Onderbouwing gestegen naar 53 documenten
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2026-11-13 09:12 LHX1 appears alongside genital and müllerian development in 41 sources
Onderbouwing gestegen naar 41 documenten
2026-11-13 09:12 LHX1 appears alongside genital and müllerian development in 41 sources
Onderbouwing gestegen naar 41 documenten
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2026-11-13 09:12 HNF1B appears alongside skeleton and limbs in 39 sources
Onderbouwing gestegen naar 39 documenten
2026-11-13 09:12 HNF1B appears alongside skeleton and limbs in 39 sources
Onderbouwing gestegen naar 39 documenten
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2026-11-13 09:12 LHX1 appears alongside diabetes and metabolism in 37 sources
Onderbouwing gestegen naar 37 documenten
2026-11-13 09:12 LHX1 appears alongside diabetes and metabolism in 37 sources
Onderbouwing gestegen naar 37 documenten
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2026-11-13 09:12 HNF1B appears alongside eyes, ears and hearing in 35 sources
Onderbouwing gestegen naar 35 documenten
2026-11-13 09:12 HNF1B appears alongside eyes, ears and hearing in 35 sources
Onderbouwing gestegen naar 35 documenten
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2026-11-13 09:12 LHX1 appears alongside learning, speech and behaviour in 35 sources
Onderbouwing gestegen naar 35 documenten
2026-11-13 09:12 LHX1 appears alongside learning, speech and behaviour in 35 sources
Onderbouwing gestegen naar 35 documenten
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2026-11-13 09:12 LHX1 appears alongside liver and gallbladder in 26 sources
Onderbouwing gestegen naar 26 documenten
2026-11-13 09:12 LHX1 appears alongside liver and gallbladder in 26 sources
Onderbouwing gestegen naar 26 documenten
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2026-11-13 09:12 LHX1 appears alongside the heart in 25 sources
Onderbouwing gestegen naar 25 documenten
2026-11-13 09:12 LHX1 appears alongside the heart in 25 sources
Onderbouwing gestegen naar 25 documenten
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2026-11-13 09:12 LHX1 appears alongside skeleton and limbs in 21 sources
Onderbouwing gestegen naar 21 documenten
2026-11-13 09:12 LHX1 appears alongside skeleton and limbs in 21 sources
Onderbouwing gestegen naar 21 documenten
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2026-11-13 09:12 ACACA appears alongside learning, speech and behaviour in 19 sources
Onderbouwing gestegen naar 19 documenten
2026-11-13 09:12 ACACA appears alongside learning, speech and behaviour in 19 sources
Onderbouwing gestegen naar 19 documenten
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2026-11-13 09:12 LHX1 appears alongside growth, gut and nutrition in 17 sources
Onderbouwing gestegen naar 17 documenten
2026-11-13 09:12 LHX1 appears alongside growth, gut and nutrition in 17 sources
Onderbouwing gestegen naar 17 documenten
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2026-11-13 09:12 ACACA appears alongside liver and gallbladder in 17 sources
Onderbouwing gestegen naar 17 documenten
2026-11-13 09:12 ACACA appears alongside liver and gallbladder in 17 sources
Onderbouwing gestegen naar 17 documenten
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2026-11-13 09:12 LHX1 appears alongside eyes, ears and hearing in 11 sources
Onderbouwing gestegen naar 11 documenten
2026-11-13 09:12 LHX1 appears alongside eyes, ears and hearing in 11 sources
Onderbouwing gestegen naar 11 documenten
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2026-11-13 09:12 ACACA appears alongside growth, gut and nutrition in 7 sources
Across the collected corpus, the gene ACACA co-occurs with growth, gut and nutrition in 7 independent documents (of 29 documents mentioning ACACA and 87 mentioning growth, gut and nutrition). Association strength 0.08.
2026-11-13 09:12 ACACA appears alongside growth, gut and nutrition in 7 sources
Across the collected corpus, the gene ACACA co-occurs with growth, gut and nutrition in 7 independent documents (of 29 documents mentioning ACACA and 87 mentioning growth, gut and nutrition). Association strength 0.08.
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2026-11-13 09:12 PIGW appears alongside eyes, ears and hearing in 6 sources
Onderbouwing gestegen naar 6 documenten
2026-11-13 09:12 PIGW appears alongside eyes, ears and hearing in 6 sources
Onderbouwing gestegen naar 6 documenten
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2026-11-13 09:12 ACACA appears alongside eyes, ears and hearing in 5 sources
Across the collected corpus, the gene ACACA co-occurs with eyes, ears and hearing in 5 independent documents (of 29 documents mentioning ACACA and 57 mentioning eyes, ears and hearing). Association strength 0.09.
2026-11-13 09:12 ACACA appears alongside eyes, ears and hearing in 5 sources
Across the collected corpus, the gene ACACA co-occurs with eyes, ears and hearing in 5 independent documents (of 29 documents mentioning ACACA and 57 mentioning eyes, ears and hearing). Association strength 0.09.
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, …
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract W…
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiolo…
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdelet…
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chroni…
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This arti…
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional stud…
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5)...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUN…
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephrop…
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on …
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia r…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel genetic mutation in a Portuguese family with GCK-MODY…
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutatio…
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity…
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-…
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population…
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diab…
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the …
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 6q24 transient neonatal diabetes mellitus: the first case report from China…
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) muta…
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic di…
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B),...
inzicht toegevoegd
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions,...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both th…
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5…
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic...
inzicht toegevoegd
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions an…
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the abs…
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: (C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 …
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive sys…
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses…
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fal…
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as…
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-fram…
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Conge…
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) In…
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Ins…
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, a…
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion synd…
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP p…
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: New-onset diabetes after transplantation associated with a newly described deletion in HNF1B…
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report on a series of three patients with pancreatic agenesis and congenital heart defects…
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who develop…
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Ren…
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene…
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage…
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs wit…
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer ri…
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African American…
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial de…
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer…
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Whole exome sequencing reveals novel candidate gene variants for MODY…
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated i…
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenoty…
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel c…
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of co…
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people…
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the Natio…
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset d…
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabete…
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed…
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with…
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteri…
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: 3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent …
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus,...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with…
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glu…
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Discussion This is the first report to identify and validate the function of a transcription enhancer in the k…
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker…
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Fram…
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kid…
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of…
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are...
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-H…
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an H…
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estim…
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
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2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
2026-11-13 09:12 Nieuwe waarneming gerapporteerd: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions…
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
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2026-11-13 09:12 Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25
A source reports “72.0%” in the context of kidney: “Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25.8%), and CAKUT (19.2%).”
2026-11-13 09:12 Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25
A source reports “72.0%” in the context of kidney: “Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25.8%), and CAKUT (19.2%).”
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2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 C
A source reports “147 Cases” in the context of kidney: “Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China...
2026-11-13 09:12 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 C
A source reports “147 Cases” in the context of kidney: “Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China...
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2026-11-13 09:12 Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney a
A source reports “95.0%” in the context of kidney: “Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%.”
2026-11-13 09:12 Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney a
A source reports “95.0%” in the context of kidney: “Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%.”
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2026-11-13 09:12 Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available me
A source reports “25.0%” in the context of kidney: “Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements.”
2026-11-13 09:12 Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available me
A source reports “25.0%” in the context of kidney: “Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements.”
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2026-11-13 09:12 HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal m
A source reports “2%” in the context of kidney: “HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal magnesium loss.”
2026-11-13 09:12 HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal m
A source reports “2%” in the context of kidney: “HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal magnesium loss.”
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2026-11-13 09:12 Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence v
A source reports “7.4%” in the context of diabetes metabolic: “Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence variant or 17q12del.”
2026-11-13 09:12 Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence v
A source reports “7.4%” in the context of diabetes metabolic: “Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence variant or 17q12del.”
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2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort
A source reports “79%” in the context of kidney: “Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts...
2026-11-13 09:12 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort
A source reports “79%” in the context of kidney: “Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts...
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2026-11-13 09:12 A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 1
A source reports “54%” in the context of kidney: “A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%; P = 0.008).”
2026-11-13 09:12 A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 1
A source reports “54%” in the context of kidney: “A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%; P = 0.008).”
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2026-11-13 09:12 Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012
A source reports “6.3%” in the context of diabetes metabolic: “Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012.”
2026-11-13 09:12 Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012
A source reports “6.3%” in the context of diabetes metabolic: “Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012.”
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2026-11-13 09:12 First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mel
A source reports “2 cases” in the context of diabetes metabolic: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the...
2026-11-13 09:12 First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mel
A source reports “2 cases” in the context of diabetes metabolic: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the...
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2026-11-13 09:12 For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterior
A source reports “35 individuals” in the context of diabetes metabolic: “For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration.”
2026-11-13 09:12 For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterior
A source reports “35 individuals” in the context of diabetes metabolic: “For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration.”
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2026-11-13 09:12 A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than i
A source reports “18 individuals” in the context of diabetes metabolic: “A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes.”
2026-11-13 09:12 A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than i
A source reports “18 individuals” in the context of diabetes metabolic: “A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes.”
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2026-11-13 09:12 Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lower
A source reports “175 individuals” in the context of diabetes metabolic: “Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lowering therapy (175...
2026-11-13 09:12 Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lower
A source reports “175 individuals” in the context of diabetes metabolic: “Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lowering therapy (175...
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2026-11-13 09:12 A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after
A source reports “11.7%” in the context of diabetes metabolic: “A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after high-carbohydrate diet if the...
2026-11-13 09:12 A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after
A source reports “11.7%” in the context of diabetes metabolic: “A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after high-carbohydrate diet if the...
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2026-11-13 09:12 A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals)
A source reports “76 individuals” in the context of diabetes metabolic: “A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals) 25 - 29 , and almost...
2026-11-13 09:12 A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals)
A source reports “76 individuals” in the context of diabetes metabolic: “A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals) 25 - 29 , and almost...
inzicht toegevoegd
2026-11-13 09:12 While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabet
A source reports “16 individuals” in the context of diabetes metabolic: “While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabetes data that could be...
2026-11-13 09:12 While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabet
A source reports “16 individuals” in the context of diabetes metabolic: “While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabetes data that could be...
inzicht toegevoegd
2026-11-13 09:12 The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a wors
A source reports “0.8%” in the context of diabetes metabolic: “The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a worsening of HbA1c by 3.2%.”
2026-11-13 09:12 The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a wors
A source reports “0.8%” in the context of diabetes metabolic: “The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a worsening of HbA1c by 3.2%.”
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2026-11-13 09:12 The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD
A source reports “293 cases” in the context of diabetes metabolic: “The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD.”
2026-11-13 09:12 The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD
A source reports “293 cases” in the context of diabetes metabolic: “The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD.”
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2026-11-13 09:12 One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] dur
A source reports “29 of 51” in the context of diabetes metabolic: “One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] duration of 0.75 [0-5.25] years...
2026-11-13 09:12 One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] dur
A source reports “29 of 51” in the context of diabetes metabolic: “One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] duration of 0.75 [0-5.25] years...
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2026-11-13 09:12 After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five c
A source reports “16 cases” in the context of diabetes metabolic: “After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five case series reporting on 16...
2026-11-13 09:12 After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five c
A source reports “16 cases” in the context of diabetes metabolic: “After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five case series reporting on 16...
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2026-11-13 09:12 Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the m
A source reports “72 patients” in the context of diabetes metabolic: “Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the median follow-up time of 1...
2026-11-13 09:12 Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the m
A source reports “72 patients” in the context of diabetes metabolic: “Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the median follow-up time of 1...
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2026-11-13 09:12 Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency
A source reports “24%” in the context of diabetes metabolic: “Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency in 24% ( n = 17), a decrease in...
2026-11-13 09:12 Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency
A source reports “24%” in the context of diabetes metabolic: “Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency in 24% ( n = 17), a decrease in...
inzicht toegevoegd
2026-11-13 09:12 Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy
A source reports “95 patients” in the context of diabetes metabolic: “Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy.”
2026-11-13 09:12 Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy
A source reports “95 patients” in the context of diabetes metabolic: “Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy.”
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2026-11-13 09:12 Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients w
A source reports “29 of 95” in the context of diabetes metabolic: “Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients with a median pre-HbA1c of...
2026-11-13 09:12 Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients w
A source reports “29 of 95” in the context of diabetes metabolic: “Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients with a median pre-HbA1c of...
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2026-11-13 09:12 Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68
A source reports “16 of 89” in the context of diabetes metabolic: “Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68 (0.42-1.8) IU/kg/day prior to...
2026-11-13 09:12 Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68
A source reports “16 of 89” in the context of diabetes metabolic: “Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68 (0.42-1.8) IU/kg/day prior to...
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2026-11-13 09:12 His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L
A source reports “17.3%” in the context of diabetes metabolic: “His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L.”
2026-11-13 09:12 His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L
A source reports “17.3%” in the context of diabetes metabolic: “His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L.”
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2026-11-13 09:12 Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pu
A source reports “41 cases” in the context of general: “Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pubmed.”
2026-11-13 09:12 Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pu
A source reports “41 cases” in the context of general: “Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pubmed.”
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2026-11-13 09:12 It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneo
A source reports “65%” in the context of hepatic: “It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneous HNF-1β gene mutations.”
2026-11-13 09:12 It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneo
A source reports “65%” in the context of hepatic: “It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneous HNF-1β gene mutations.”
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2026-11-13 09:12 Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children w
A source reports “75.4%” in the context of general: “Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children with isolated ACC, respectively [ 25 ].”
2026-11-13 09:12 Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children w
A source reports “75.4%” in the context of general: “Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children with isolated ACC, respectively [ 25 ].”
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2026-11-13 09:12 4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fastin
A source reports “4.2%” in the context of diabetes metabolic: “4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fasting blood glucose 87 mg/dL).”
2026-11-13 09:12 4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fastin
A source reports “4.2%” in the context of diabetes metabolic: “4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fasting blood glucose 87 mg/dL).”
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2026-11-13 09:12 1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease
A source reports “15%” in the context of kidney: “1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease.”
2026-11-13 09:12 1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease
A source reports “15%” in the context of kidney: “1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease.”
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2026-11-13 09:12 Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using t
A source reports “521 patients” in the context of kidney: “Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for...
2026-11-13 09:12 Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using t
A source reports “521 patients” in the context of kidney: “Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for...
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2026-11-13 09:12 We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a la
A source reports “521 individuals” in the context of kidney: “We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a large multicenter European cohort of...
2026-11-13 09:12 We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a la
A source reports “521 individuals” in the context of kidney: “We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a large multicenter European cohort of...
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2026-11-13 09:12 Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P <
A source reports “97%” in the context of kidney: “Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P < 0.001) and displayed a delayed progression to...
2026-11-13 09:12 Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P <
A source reports “97%” in the context of kidney: “Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P < 0.001) and displayed a delayed progression to...
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2026-11-13 09:12 Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Suppleme
A source reports “29%” in the context of kidney: “Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Supplementary Table S2 ) and was significantly more...
2026-11-13 09:12 Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Suppleme
A source reports “29%” in the context of kidney: “Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Supplementary Table S2 ) and was significantly more...
inzicht toegevoegd
2026-11-13 09:12 Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did
A source reports “12%” in the context of diabetes metabolic: “Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did not correlate with a specific...
2026-11-13 09:12 Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did
A source reports “12%” in the context of diabetes metabolic: “Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did not correlate with a specific...
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2026-11-13 09:12 In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67%
A source reports “67%” in the context of general: “In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67% in the current study versus 56% to 59% in...
2026-11-13 09:12 In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67%
A source reports “67%” in the context of general: “In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67% in the current study versus 56% to 59% in...
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2026-11-13 09:12 (b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patient
A source reports “62 patients” in the context of kidney: “(b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patients with the 17q12del.”
2026-11-13 09:12 (b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patient
A source reports “62 patients” in the context of kidney: “(b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patients with the 17q12del.”
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2026-11-13 09:12 This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level
A source reports “16.8%” in the context of kidney: “This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level of fasting venous blood glucose was 30.0...
2026-11-13 09:12 This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level
A source reports “16.8%” in the context of kidney: “This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level of fasting venous blood glucose was 30.0...
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2026-11-13 09:12 Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK,
A source reports “94.6 %” in the context of kidney: “Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK, 28/37, 75.7 %) and multicystic dysplastic...
2026-11-13 09:12 Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK,
A source reports “94.6 %” in the context of kidney: “Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK, 28/37, 75.7 %) and multicystic dysplastic...
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2026-11-13 09:12 We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, low
A source reports “57.1 %” in the context of general: “We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, lower than previously reported in the...
2026-11-13 09:12 We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, low
A source reports “57.1 %” in the context of general: “We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, lower than previously reported in the...
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2026-11-13 09:12 Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been rep
A source reports “50 individuals” in the context of general: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were...
2026-11-13 09:12 Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been rep
A source reports “50 individuals” in the context of general: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were...
inzicht toegevoegd
2026-11-13 09:12 In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36
A source reports “39.58 %” in the context of kidney: “In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36 ] indicated that HEK had a CMA diagnostic...
2026-11-13 09:12 In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36
A source reports “39.58 %” in the context of kidney: “In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36 ] indicated that HEK had a CMA diagnostic...
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2026-11-13 09:12 2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), whil
A source reports “68.8 %” in the context of kidney: “2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), while it may result from various renal abnormalities.”
2026-11-13 09:12 2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), whil
A source reports “68.8 %” in the context of kidney: “2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), while it may result from various renal abnormalities.”
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2026-11-13 09:12 Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabete
A source reports “66%” in the context of diabetes metabolic: “Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabetes diagnosis is 16 years old.”
2026-11-13 09:12 Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabete
A source reports “66%” in the context of diabetes metabolic: “Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabetes diagnosis is 16 years old.”
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2026-11-13 09:12 Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [
A source reports “72%” in the context of kidney: “Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [ 21 ].”
2026-11-13 09:12 Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [
A source reports “72%” in the context of kidney: “Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [ 21 ].”
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2026-11-13 09:12 Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ]
A source reports “62%” in the context of kidney: “Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ].”
2026-11-13 09:12 Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ]
A source reports “62%” in the context of kidney: “Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ].”
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2026-11-13 09:12 As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal s
A source reports “61%” in the context of kidney: “As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal symptom listed in the figure.”
2026-11-13 09:12 As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal s
A source reports “61%” in the context of kidney: “As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal symptom listed in the figure.”
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2026-11-13 09:12 HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 )
A source reports “63%” in the context of general: “HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 ).”
2026-11-13 09:12 HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 )
A source reports “63%” in the context of general: “HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 ).”
inzicht toegevoegd
2026-11-13 09:12 ( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of
A source reports “21%” in the context of general: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the...
2026-11-13 09:12 ( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of
A source reports “21%” in the context of general: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the...
inzicht toegevoegd
2026-11-13 09:12 ( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities h
A source reports “86 patients” in the context of neurodevelopment: “( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities had developed autism, growth...
2026-11-13 09:12 ( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities h
A source reports “86 patients” in the context of neurodevelopment: “( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities had developed autism, growth...
inzicht toegevoegd
2026-11-13 09:12 Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 wo
A source reports “18%” in the context of kidney: “Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.”
2026-11-13 09:12 Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 wo
A source reports “18%” in the context of kidney: “Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.”
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2026-11-13 09:12 To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study invol
A source reports “265 individuals” in the context of cancer: “To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with...
2026-11-13 09:12 To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study invol
A source reports “265 individuals” in the context of cancer: “To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with...
inzicht toegevoegd
2026-11-13 09:12 In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnes
A source reports “24 patients” in the context of kidney: “In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as...
2026-11-13 09:12 In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnes
A source reports “24 patients” in the context of kidney: “In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as...
inzicht toegevoegd
2026-11-13 09:12 Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver te
A source reports “27 patients” in the context of diabetes metabolic: “Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse...
2026-11-13 09:12 Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver te
A source reports “27 patients” in the context of diabetes metabolic: “Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse...
inzicht toegevoegd
2026-11-13 09:12 We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteri
A source reports “461 patients” in the context of diabetes metabolic: “We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset...
2026-11-13 09:12 We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteri
A source reports “461 patients” in the context of diabetes metabolic: “We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset...
inzicht toegevoegd
2026-11-13 09:12 A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease a
A source reports “70 %” in the context of kidney: “A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease and hyperuricemia.Key words: HNF1B - MODY -...
2026-11-13 09:12 A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease a
A source reports “70 %” in the context of kidney: “A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease and hyperuricemia.Key words: HNF1B - MODY -...
inzicht toegevoegd
2026-11-13 09:12 We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads
A source reports “289 cases” in the context of general: “We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls.”
2026-11-13 09:12 We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads
A source reports “289 cases” in the context of general: “We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls.”
inzicht toegevoegd
2026-11-13 09:12 In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were i
A source reports “4.17%” in the context of general: “In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations.”
2026-11-13 09:12 In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were i
A source reports “4.17%” in the context of general: “In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations.”
inzicht toegevoegd
2026-11-13 09:12 Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine e
A source reports “7 cases” in the context of kidney: “Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary...
2026-11-13 09:12 Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine e
A source reports “7 cases” in the context of kidney: “Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary...
inzicht toegevoegd
2026-11-13 09:12 All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechog
A source reports “4 patients” in the context of kidney: “All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys.”
2026-11-13 09:12 All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechog
A source reports “4 patients” in the context of kidney: “All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys.”
inzicht versterkt
2026-11-13 09:12 Surveillance discussed in 303 sources
Onderbouwing gestegen naar 303 documenten
2026-11-13 09:12 Surveillance discussed in 303 sources
Onderbouwing gestegen naar 303 documenten
inzicht versterkt
2026-11-13 09:12 Counseling discussed in 205 sources
Onderbouwing gestegen naar 205 documenten
2026-11-13 09:12 Counseling discussed in 205 sources
Onderbouwing gestegen naar 205 documenten
inzicht versterkt
2026-11-13 09:12 Research discussed in 141 sources
Onderbouwing gestegen naar 141 documenten
2026-11-13 09:12 Research discussed in 141 sources
Onderbouwing gestegen naar 141 documenten
inzicht versterkt
2026-11-13 09:12 Therapy discussed in 136 sources
Onderbouwing gestegen naar 136 documenten
2026-11-13 09:12 Therapy discussed in 136 sources
Onderbouwing gestegen naar 136 documenten
inzicht toegevoegd
2026-11-13 09:12 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
2026-11-13 09:12 Caution: The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost …
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
inzicht toegevoegd
2026-11-13 09:12 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
2026-11-13 09:12 Caution: There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia…
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
inzicht toegevoegd
2026-11-13 09:12 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
2026-11-13 09:12 Caution: In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD pr…
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P =...
inzicht toegevoegd
2026-11-13 09:12 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
2026-11-13 09:12 Caution: In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with ab…
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
inzicht toegevoegd
2026-11-13 09:12 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
2026-11-13 09:12 Caution: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic ki…
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic...
inzicht toegevoegd
2026-11-13 09:12 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
2026-11-13 09:12 Caution: No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutatio…
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
inzicht toegevoegd
2026-11-13 09:12 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
2026-11-13 09:12 Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show...
inzicht toegevoegd
2026-11-13 09:12 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 09:12 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
inzicht toegevoegd
2026-11-13 09:12 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 09:12 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
inzicht toegevoegd
2026-11-13 09:12 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 09:12 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
inzicht toegevoegd
2026-11-13 09:12 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 09:12 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
inzicht toegevoegd
2026-11-13 09:12 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a...
2026-11-13 09:12 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a...
inzicht toegevoegd
2026-11-13 09:12 Persistent tic disorders are associated with 17q12 duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
2026-11-13 09:12 Persistent tic disorders are associated with 17q12 duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
inzicht toegevoegd
2026-11-13 09:12 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados Objetivo: O objetivo deste estudo é integrar evidências clínicas sobre ceratocone e doença renal...
2026-11-13 09:12 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados Objetivo: O objetivo deste estudo é integrar evidências clínicas sobre ceratocone e doença renal...
inzicht toegevoegd
2026-11-13 09:12 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the...
2026-11-13 09:12 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the...
inzicht toegevoegd
2026-11-13 09:12 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.
2026-11-13 09:12 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.
document toegevoegd
2026-11-13 08:57 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
Nieuw article van openalex (relevantie 0.866)
2026-11-13 08:57 Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component
Nieuw article van openalex (relevantie 0.866)
document toegevoegd
2026-11-13 08:57 Persistent tic disorders are associated with 17q12 duplications
Nieuw review van openalex (relevantie 1.0)
2026-11-13 08:57 Persistent tic disorders are associated with 17q12 duplications
Nieuw review van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
Nieuw article van openalex (relevantie 0.866)
2026-11-13 08:57 Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados
Nieuw article van openalex (relevantie 0.866)
document toegevoegd
2026-11-13 08:57 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Nieuw guideline van openalex (relevantie 0.759)
2026-11-13 08:57 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel
Nieuw guideline van openalex (relevantie 0.759)
document toegevoegd
2026-11-13 08:57 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
Nieuw abstract van openalex (relevantie 0.564)
2026-11-13 08:57 Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ancestry Individuals from the All of Us Research Program
Nieuw abstract van openalex (relevantie 0.564)
document toegevoegd
2026-11-13 08:57 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
Nieuw case_report van openalex (relevantie 0.564)
2026-11-13 08:57 Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update
Nieuw case_report van openalex (relevantie 0.564)
document toegevoegd
2026-11-13 08:57 Clinical impact of genetic testing in inherited kidney diseases
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 Clinical impact of genetic testing in inherited kidney diseases
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Functional validation of a non-canonical HNF1B splice-site variant in MODY5
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
Nieuw article van openalex (relevantie 0.739)
2026-11-13 08:57 Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice
Nieuw article van openalex (relevantie 0.739)
document toegevoegd
2026-11-13 08:57 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADHD: A Case Study from Pakistan
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pregnancy Outcomes – a case series
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with high thyroxine requirement
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing anthropometric and cardiometabolic traits
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
Nieuw abstract van openalex (relevantie 1.0)
2026-11-13 08:57 HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges
Nieuw abstract van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
Nieuw guideline van openalex (relevantie 1.0)
2026-11-13 08:57 17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing
Nieuw guideline van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study
Nieuw article van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – two case reports and a literature review
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 17q12 deletion syndrome presenting with chronic pancreatitis: a case report
Nieuw case_report van openalex (relevantie 1.0)
document toegevoegd
2026-11-13 08:57 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
Nieuw case_report van openalex (relevantie 1.0)
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2026-11-13 08:57 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet. Gynecol. Reprod. B
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype” [Eur. J. Obstet. Gynecol. Reprod. B
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype–Phenotype Correlations
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype–Phenotype Correlations
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation
Nieuw case_report van openalex (relevantie 1.0)
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2026-11-13 08:57 Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report with HNF1B deficiency and literature review
Nieuw case_report van openalex (relevantie 1.0)
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2026-11-13 08:57 Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report
Nieuw case_report van openalex (relevantie 1.0)
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2026-11-13 08:57 From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 Possibilities of early diagnostics of chromosome 17q12 deletion syndrome in newborns with cystic dysplasia of the kidney
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Possibilities of early diagnostics of chromosome 17q12 deletion syndrome in newborns with cystic dysplasia of the kidney
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 17q12 Recurrent Deletion Syndrome in Childhood
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 17q12 Recurrent Deletion Syndrome in Childhood
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China
Nieuw article van openalex (relevantie 1.0)
2026-11-13 08:57 Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China
Nieuw article van openalex (relevantie 1.0)
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2026-11-13 08:57 A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy
Nieuw case_report van openalex (relevantie 1.0)
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2026-11-13 08:57 Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic potentials
Nieuw abstract van openalex (relevantie 0.486)
2026-11-13 08:57 Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic potentials
Nieuw abstract van openalex (relevantie 0.486)
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2026-11-13 08:57 HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report
Nieuw case_report van openalex (relevantie 0.647)
2026-11-13 08:57 HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report
Nieuw case_report van openalex (relevantie 0.647)
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2026-11-13 08:57 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5
Nieuw case_report van openalex (relevantie 1.0)
2026-11-13 08:57 A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5
Nieuw case_report van openalex (relevantie 1.0)
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2026-11-13 08:54 Precision treatment of beta-cell monogenic diabetes: a systematic review
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:54 Precision treatment of beta-cell monogenic diabetes: a systematic review
Nieuw article van pmc (relevantie 1.0)
document toegevoegd
2026-11-13 08:54 Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
Nieuw review van pmc (relevantie 0.45)
2026-11-13 08:54 Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
Nieuw review van pmc (relevantie 0.45)
document toegevoegd
2026-11-13 08:54 A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
Nieuw case_report van pmc (relevantie 1.0)
2026-11-13 08:54 A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
Nieuw case_report van pmc (relevantie 1.0)
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2026-11-13 08:53 Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:53 Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
Nieuw article van pmc (relevantie 1.0)
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2026-11-13 08:53 A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
Nieuw case_report van pmc (relevantie 1.0)
2026-11-13 08:53 A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
Nieuw case_report van pmc (relevantie 1.0)
document toegevoegd
2026-11-13 08:53 Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:53 Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Nieuw article van pmc (relevantie 1.0)
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2026-11-13 08:53 MRI in the prenatal genetic diagnosis and intrauterine treatment of fetal congenital cystic adenoma of the lung
Nieuw article van pmc (relevantie 0.45)
2026-11-13 08:53 MRI in the prenatal genetic diagnosis and intrauterine treatment of fetal congenital cystic adenoma of the lung
Nieuw article van pmc (relevantie 0.45)
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2026-11-13 08:52 HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report
Nieuw case_report van pmc (relevantie 1.0)
2026-11-13 08:52 HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report
Nieuw case_report van pmc (relevantie 1.0)
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2026-11-13 08:52 Impact and characterization of serial structural variations across humans and great apes
Nieuw article van pmc (relevantie 0.45)
2026-11-13 08:52 Impact and characterization of serial structural variations across humans and great apes
Nieuw article van pmc (relevantie 0.45)
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2026-11-13 08:52 Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:52 Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review
Nieuw article van pmc (relevantie 1.0)
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2026-11-13 08:52 青少年起病的成人型糖尿病3型合并5型1例并文献复习
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:52 青少年起病的成人型糖尿病3型合并5型1例并文献复习
Nieuw article van pmc (relevantie 1.0)
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2026-11-13 08:51 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
Nieuw case_report van pmc (relevantie 1.0)
2026-11-13 08:51 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B
Nieuw case_report van pmc (relevantie 1.0)
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2026-11-13 08:51 The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana
Nieuw guideline van pmc (relevantie 0.45)
2026-11-13 08:51 The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana
Nieuw guideline van pmc (relevantie 0.45)
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2026-11-13 08:50 Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes
Nieuw article van pmc (relevantie 0.45)
2026-11-13 08:50 Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes
Nieuw article van pmc (relevantie 0.45)
document toegevoegd
2026-11-13 08:50 HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:50 HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis
Nieuw article van pmc (relevantie 1.0)
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2026-11-13 08:49 Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China
Nieuw article van pmc (relevantie 0.45)
2026-11-13 08:49 Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China
Nieuw article van pmc (relevantie 0.45)
document toegevoegd
2026-11-13 08:49 A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
Nieuw article van pmc (relevantie 1.0)
2026-11-13 08:49 A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
Nieuw article van pmc (relevantie 1.0)
document toegevoegd
2026-11-13 08:16 Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.
Nieuw article van pubmed (relevantie 0.477)
2026-11-13 08:16 Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.
Nieuw article van pubmed (relevantie 0.477)
document toegevoegd
2026-11-13 08:16 Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:16 Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:15 Function of HNF1 in the pathogenesis of diabetes.
Nieuw article van pubmed (relevantie 0.963)
2026-11-13 08:15 Function of HNF1 in the pathogenesis of diabetes.
Nieuw article van pubmed (relevantie 0.963)
document toegevoegd
2026-11-13 08:15 Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:15 Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:15 Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness.
Nieuw article van pubmed (relevantie 0.564)
2026-11-13 08:15 Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride transfer protein (MTTP) gene is crucial for MTTP basal expression and insulin responsiveness.
Nieuw article van pubmed (relevantie 0.564)
document toegevoegd
2026-11-13 08:15 HNF1B-related diabetes triggered by renal transplantation.
Nieuw article van pubmed (relevantie 0.981)
2026-11-13 08:15 HNF1B-related diabetes triggered by renal transplantation.
Nieuw article van pubmed (relevantie 0.981)
document toegevoegd
2026-11-13 08:15 Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:15 Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:15 A mitotic transcriptional switch in polycystic kidney disease.
Nieuw article van pubmed (relevantie 0.672)
2026-11-13 08:15 A mitotic transcriptional switch in polycystic kidney disease.
Nieuw article van pubmed (relevantie 0.672)
document toegevoegd
2026-11-13 08:15 HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:15 HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:15 Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.
Nieuw article van pubmed (relevantie 0.827)
2026-11-13 08:15 Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.
Nieuw article van pubmed (relevantie 0.827)
document toegevoegd
2026-11-13 08:15 Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:15 Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 The Hepatocyte nuclear factor-1 alpha ( HNF1A) gene is associated with fatness and loin muscle area in the pig.
Nieuw article van pubmed (relevantie 0.887)
2026-11-13 08:14 The Hepatocyte nuclear factor-1 alpha ( HNF1A) gene is associated with fatness and loin muscle area in the pig.
Nieuw article van pubmed (relevantie 0.887)
document toegevoegd
2026-11-13 08:14 Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Nieuw article van pubmed (relevantie 0.853)
2026-11-13 08:14 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Nieuw article van pubmed (relevantie 0.853)
document toegevoegd
2026-11-13 08:14 Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Large-scale fine mapping of the HNF1B locus and prostate cancer risk.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Large-scale fine mapping of the HNF1B locus and prostate cancer risk.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
Nieuw article van pubmed (relevantie 0.887)
2026-11-13 08:14 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
Nieuw article van pubmed (relevantie 0.887)
document toegevoegd
2026-11-13 08:14 HNF1B polymorphism associated with development of prostate cancer in Korean patients.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 HNF1B polymorphism associated with development of prostate cancer in Korean patients.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 HNF1B deficiency causes ciliary defects in human cholangiocytes.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 HNF1B deficiency causes ciliary defects in human cholangiocytes.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 [Liver, kidneys and diabetes: three faces of HNF1B gene deficit].
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 [Liver, kidneys and diabetes: three faces of HNF1B gene deficit].
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 [HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 [HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:14 Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:14 Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.
Nieuw review van pubmed (relevantie 1.0)
2026-11-13 08:13 Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.
Nieuw review van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Hepatocyte nuclear factor 1 beta induces transformation and epithelial-to-mesenchymal transition.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Hepatocyte nuclear factor 1 beta induces transformation and epithelial-to-mesenchymal transition.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Nieuw article van pubmed (relevantie 0.833)
2026-11-13 08:13 Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Nieuw article van pubmed (relevantie 0.833)
document toegevoegd
2026-11-13 08:13 Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.
Nieuw article van pubmed (relevantie 0.739)
2026-11-13 08:13 Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.
Nieuw article van pubmed (relevantie 0.739)
document toegevoegd
2026-11-13 08:13 Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.
Nieuw case_report van pubmed (relevantie 0.847)
2026-11-13 08:13 Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.
Nieuw case_report van pubmed (relevantie 0.847)
document toegevoegd
2026-11-13 08:13 MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 [Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 [Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 Choledochal Cyst with 17q12 Chromosomal Duplication.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 Choledochal Cyst with 17q12 Chromosomal Duplication.
Nieuw article van pubmed (relevantie 1.0)
document toegevoegd
2026-11-13 08:13 HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:13 HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:13 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
Nieuw review van pubmed (relevantie 1.0)
2026-11-13 08:13 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
Nieuw review van pubmed (relevantie 1.0)
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2026-11-13 08:13 Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Nieuw article van pubmed (relevantie 0.652)
2026-11-13 08:13 Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Nieuw article van pubmed (relevantie 0.652)
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2026-11-13 08:13 De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
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2026-11-13 08:13 De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:13 Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
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2026-11-13 08:13 Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:12 Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.
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2026-11-13 08:12 Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.
Nieuw article van pubmed (relevantie 0.57)
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2026-11-13 08:12 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
Nieuw case_report van pubmed (relevantie 0.739)
2026-11-13 08:12 A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
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2026-11-13 08:12 Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
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2026-11-13 08:12 Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Nieuw article van pubmed (relevantie 0.739)
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2026-11-13 08:12 Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans.
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2026-11-13 08:12 Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:11 Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:11 Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:11 Pancreatic Ductal Deletion of Hnf1b Disrupts Exocrine Homeostasis, Leads to Pancreatitis, and Facilitates Tumorigenesis.
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2026-11-13 08:11 Pancreatic Ductal Deletion of Hnf1b Disrupts Exocrine Homeostasis, Leads to Pancreatitis, and Facilitates Tumorigenesis.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:11 School level of children carrying a HNF1B variant or a deletion.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:11 School level of children carrying a HNF1B variant or a deletion.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:11 Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.
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2026-11-13 08:11 Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.
Nieuw case_report van pubmed (relevantie 0.908)
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2026-11-13 08:11 Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
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2026-11-13 08:11 Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:11 Whole exome sequencing reveals novel candidate gene variants for MODY.
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2026-11-13 08:11 Whole exome sequencing reveals novel candidate gene variants for MODY.
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2026-11-13 08:10 Pten and Dicer1 loss in the mouse uterus causes poorly differentiated endometrial adenocarcinoma.
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2026-11-13 08:10 Pten and Dicer1 loss in the mouse uterus causes poorly differentiated endometrial adenocarcinoma.
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2026-11-13 08:10 Hepatocyte nuclear factor 1β suppresses canonical Wnt signaling through transcriptional repression of lymphoid enhancer-binding factor 1.
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2026-11-13 08:10 Hepatocyte nuclear factor 1β suppresses canonical Wnt signaling through transcriptional repression of lymphoid enhancer-binding factor 1.
Nieuw article van pubmed (relevantie 0.564)
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2026-11-13 08:10 Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
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2026-11-13 08:10 Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:10 Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:10 Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:10 Blood pressure in children with renal cysts and diabetes syndrome.
Nieuw guideline van pubmed (relevantie 1.0)
2026-11-13 08:10 Blood pressure in children with renal cysts and diabetes syndrome.
Nieuw guideline van pubmed (relevantie 1.0)
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2026-11-13 08:10 A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.
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2026-11-13 08:10 A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.
Nieuw article van pubmed (relevantie 0.739)
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2026-11-13 08:10 Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.
Nieuw article van pubmed (relevantie 0.847)
2026-11-13 08:10 Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.
Nieuw article van pubmed (relevantie 0.847)
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2026-11-13 08:10 Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.
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2026-11-13 08:10 Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:09 MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore.
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2026-11-13 08:09 MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:09 The individual and global impact of copy-number variants on complex human traits.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:09 The individual and global impact of copy-number variants on complex human traits.
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2026-11-13 08:09 First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3 , FOXF1 / FOXC2 / FOXL1 , and HNF1B .
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2026-11-13 08:09 First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3 , FOXF1 / FOXC2 / FOXL1 , and HNF1B .
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:08 Loss of Arid1a and Pten in Pancreatic Ductal Cells Induces Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
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2026-11-13 08:08 Loss of Arid1a and Pten in Pancreatic Ductal Cells Induces Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
Nieuw article van pubmed (relevantie 0.564)
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2026-11-13 08:08 HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes.
Nieuw case_report van pubmed (relevantie 1.0)
2026-11-13 08:08 HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiological Diagnosis of Diabetes.
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2026-11-13 08:08 The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
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2026-11-13 08:08 The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
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2026-11-13 08:08 Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
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2026-11-13 08:08 Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
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2026-11-13 08:08 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.
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2026-11-13 08:08 Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: A Systematic Review of the Literature.
Nieuw review van pubmed (relevantie 1.0)
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2026-11-13 08:07 Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:07 Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:07 Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG.
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2026-11-13 08:07 Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG.
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2026-11-13 08:07 Autism and duplication of 17q12q21.2 by array-CGH: a case report.
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2026-11-13 08:07 Autism and duplication of 17q12q21.2 by array-CGH: a case report.
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2026-11-13 08:07 New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
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2026-11-13 08:07 New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
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2026-11-13 08:07 Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
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2026-11-13 08:07 Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.
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2026-11-13 08:06 Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).
Nieuw case_report van pubmed (relevantie 1.0)
2026-11-13 08:06 Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).
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2026-11-13 08:06 Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:06 Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:06 Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:06 Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
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2026-11-13 08:06 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Nieuw article van pubmed (relevantie 0.941)
2026-11-13 08:06 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Nieuw article van pubmed (relevantie 0.941)
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2026-11-13 08:06 Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:06 Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:06 Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
Nieuw guideline van pubmed (relevantie 1.0)
2026-11-13 08:06 Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
Nieuw guideline van pubmed (relevantie 1.0)
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2026-11-13 08:05 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Nieuw article van pubmed (relevantie 0.941)
2026-11-13 08:05 Sexually dimorphic renal expression of Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Nieuw article van pubmed (relevantie 0.941)
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2026-11-13 08:05 Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:05 Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:05 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .
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2026-11-13 08:05 A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .
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2026-11-13 08:05 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:05 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:04 Loss of Brg1 and Pten in Pancreatic Ductal Cells Forms Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
Nieuw article van pubmed (relevantie 0.564)
2026-11-13 08:04 Loss of Brg1 and Pten in Pancreatic Ductal Cells Forms Intraductal Tubulopapillary Neoplasm via the YAP/TAZ Pathway.
Nieuw article van pubmed (relevantie 0.564)
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2026-11-13 08:04 Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:04 Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:04 Study of the ovarian function and gyneco-obstetrical profile of patients with an HNF1B abnormality.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:04 Study of the ovarian function and gyneco-obstetrical profile of patients with an HNF1B abnormality.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:04 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:04 A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:04 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:04 Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:04 Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:04 Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:04 The computational analysis of tumor cell sensitivity to supertarget deletion.
Nieuw article van pubmed (relevantie 0.792)
2026-11-13 08:04 The computational analysis of tumor cell sensitivity to supertarget deletion.
Nieuw article van pubmed (relevantie 0.792)
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2026-11-13 08:04 Dual-hit cystic kidneys: ADPKD with de novo HNF1B deletion.
Nieuw article van pubmed (relevantie 0.745)
2026-11-13 08:04 Dual-hit cystic kidneys: ADPKD with de novo HNF1B deletion.
Nieuw article van pubmed (relevantie 0.745)
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2026-11-13 08:03 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.
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2026-11-13 08:03 HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.
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2026-11-13 08:03 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.
Nieuw guideline van pubmed (relevantie 1.0)
2026-11-13 08:03 From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.
Nieuw guideline van pubmed (relevantie 1.0)
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2026-11-13 08:03 Loss of Hnf1b in differentiated proximal tubule cells uncovers nephron segment plasticity.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:03 Loss of Hnf1b in differentiated proximal tubule cells uncovers nephron segment plasticity.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:03 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder.
Nieuw article van pubmed (relevantie 1.0)
2026-11-13 08:03 From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Neurodevelopmental Disorder.
Nieuw article van pubmed (relevantie 1.0)
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2026-11-13 08:02 The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.
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2026-11-13 08:02 The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.
Nieuw article van pubmed (relevantie 1.0)
inzicht toegevoegd
2026-11-13 00:54 ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability
Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the...
2026-11-13 00:54 ESC models of autism with copy-number variations reveal cell-type-specific translational vulnerability
Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the...
inzicht toegevoegd
2026-11-13 00:54 Genetic Predisposition in Müllerian Malformations: A Case Report
Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component.
2026-11-13 00:54 Genetic Predisposition in Müllerian Malformations: A Case Report
Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component.
inzicht toegevoegd
2026-11-13 00:54 Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
2026-11-13 00:54 Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
inzicht toegevoegd
2026-11-13 00:54 17q12 Microdeletion Syndrome Initially Presenting with Tremor in Maturity-Onset Diabetes of the Young
To the Editor : A 12-y-old boy presented to the hospital with unexplained tremor of the upper limbs for a week.
2026-11-13 00:54 17q12 Microdeletion Syndrome Initially Presenting with Tremor in Maturity-Onset Diabetes of the Young
To the Editor : A 12-y-old boy presented to the hospital with unexplained tremor of the upper limbs for a week.
inzicht toegevoegd
2026-11-13 00:54 Multi- and Transgenerational Histological and Transcriptomic Outcomes of Developmental TCDD Exposure in Zebrafish ( Danio rerio ) Ovary
can be found in Supplemental Table S4 . 2.2.2. F1 Generation The indirectly exposed F1 generation displayed six DEGs at the level of ≥1 absolute log 2 fold change and p < 0.
2026-11-13 00:54 Multi- and Transgenerational Histological and Transcriptomic Outcomes of Developmental TCDD Exposure in Zebrafish ( Danio rerio ) Ovary
can be found in Supplemental Table S4 . 2.2.2. F1 Generation The indirectly exposed F1 generation displayed six DEGs at the level of ≥1 absolute log 2 fold change and p < 0.
inzicht toegevoegd
2026-11-13 00:54 A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene.
2026-11-13 00:54 A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene.
inzicht toegevoegd
2026-11-13 00:54 Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or,...
2026-11-13 00:54 Exome analysis links kidney malformations to developmental disorders and reveals causal genes
Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or,...
inzicht toegevoegd
2026-11-13 00:54 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study
Background Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies.
2026-11-13 00:54 Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study
Background Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies.
inzicht toegevoegd
2026-11-13 00:54 Diabetes associated with HNF1B: beyond Occam’s razor—A case report
Introduction Monogenic diabetes is a rare cause of diabetes in the population, accounting for an estimated 1-5% of diabetes cases.
2026-11-13 00:54 Diabetes associated with HNF1B: beyond Occam’s razor—A case report
Introduction Monogenic diabetes is a rare cause of diabetes in the population, accounting for an estimated 1-5% of diabetes cases.
inzicht toegevoegd
2026-11-13 00:54 Persistent Tic Disorders Are Associated With 17q12 Duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
2026-11-13 00:54 Persistent Tic Disorders Are Associated With 17q12 Duplications
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
inzicht toegevoegd
2026-11-13 00:54 Comparative Copy Number Variation Profiling of GL01, an Immortalized Non-small Cell Lung Cancer Cell Line Derived from a Filipino Patient, and A549 Lung Adenocarcinoma Cells
Background and Objectives Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease.
2026-11-13 00:54 Comparative Copy Number Variation Profiling of GL01, an Immortalized Non-small Cell Lung Cancer Cell Line Derived from a Filipino Patient, and A549 Lung Adenocarcinoma Cells
Background and Objectives Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease.
inzicht toegevoegd
2026-11-13 00:54 Pediatric patient with maturity-onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis.
2026-11-13 00:54 Pediatric patient with maturity-onset diabetes of the young type 5 and 17q12 deletion syndrome: A case report
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis.
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2026-11-13 00:54 Case Report: Unraveling complex genomic alterations in a case of chronic lymphocytic leukemia using optical genome mapping
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course.
2026-11-13 00:54 Case Report: Unraveling complex genomic alterations in a case of chronic lymphocytic leukemia using optical genome mapping
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course.
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2026-11-13 00:54 Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis
Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have...
2026-11-13 00:54 Genetic etiology and pregnancy outcomes of fetal hyperechoic kidneys: a retrospective analysis
Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have...
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2026-11-13 00:54 Cognitive deterioration in patients undergoing hemodialysis: how variations in age influence the development of new mechanisms and treatment approaches?
The mechanisms of age-related differences and innovative intervention strategies for cognitive dysfunction in hemodialysis patients are crucial for enhancing patient outcomes.
2026-11-13 00:54 Cognitive deterioration in patients undergoing hemodialysis: how variations in age influence the development of new mechanisms and treatment approaches?
The mechanisms of age-related differences and innovative intervention strategies for cognitive dysfunction in hemodialysis patients are crucial for enhancing patient outcomes.
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2026-11-13 00:54 Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases
Background There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic...
2026-11-13 00:54 Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases
Background There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic...
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2026-11-13 00:54 HNF1B appears alongside kidney and urinary tract in 158 sources
Across the collected corpus, the gene HNF1B co-occurs with kidney and urinary tract in 158 independent documents (of 177 documents mentioning HNF1B and 241 mentioning kidney and urinary tract). Association strength 0.66.
2026-11-13 00:54 HNF1B appears alongside kidney and urinary tract in 158 sources
Across the collected corpus, the gene HNF1B co-occurs with kidney and urinary tract in 158 independent documents (of 177 documents mentioning HNF1B and 241 mentioning kidney and urinary tract). Association strength 0.66.
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2026-11-13 00:54 HNF1B appears alongside diabetes and metabolism in 135 sources
Across the collected corpus, the gene HNF1B co-occurs with diabetes and metabolism in 135 independent documents (of 177 documents mentioning HNF1B and 197 mentioning diabetes and metabolism). Association strength 0.69.
2026-11-13 00:54 HNF1B appears alongside diabetes and metabolism in 135 sources
Across the collected corpus, the gene HNF1B co-occurs with diabetes and metabolism in 135 independent documents (of 177 documents mentioning HNF1B and 197 mentioning diabetes and metabolism). Association strength 0.69.
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2026-11-13 00:54 HNF1B appears alongside learning, speech and behaviour in 78 sources
Across the collected corpus, the gene HNF1B co-occurs with learning, speech and behaviour in 78 independent documents (of 177 documents mentioning HNF1B and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 HNF1B appears alongside learning, speech and behaviour in 78 sources
Across the collected corpus, the gene HNF1B co-occurs with learning, speech and behaviour in 78 independent documents (of 177 documents mentioning HNF1B and 155 mentioning learning, speech and behaviour). Association...
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2026-11-13 00:54 HNF1B appears alongside liver and gallbladder in 76 sources
Across the collected corpus, the gene HNF1B co-occurs with liver and gallbladder in 76 independent documents (of 177 documents mentioning HNF1B and 109 mentioning liver and gallbladder). Association strength 0.43.
2026-11-13 00:54 HNF1B appears alongside liver and gallbladder in 76 sources
Across the collected corpus, the gene HNF1B co-occurs with liver and gallbladder in 76 independent documents (of 177 documents mentioning HNF1B and 109 mentioning liver and gallbladder). Association strength 0.43.
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2026-11-13 00:54 HNF1B appears alongside genital and müllerian development in 64 sources
Across the collected corpus, the gene HNF1B co-occurs with genital and müllerian development in 64 independent documents (of 177 documents mentioning HNF1B and 121 mentioning genital and müllerian development)....
2026-11-13 00:54 HNF1B appears alongside genital and müllerian development in 64 sources
Across the collected corpus, the gene HNF1B co-occurs with genital and müllerian development in 64 independent documents (of 177 documents mentioning HNF1B and 121 mentioning genital and müllerian development)....
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2026-11-13 00:54 HNF1B appears alongside growth, gut and nutrition in 51 sources
Across the collected corpus, the gene HNF1B co-occurs with growth, gut and nutrition in 51 independent documents (of 177 documents mentioning HNF1B and 65 mentioning growth, gut and nutrition). Association strength 0.29.
2026-11-13 00:54 HNF1B appears alongside growth, gut and nutrition in 51 sources
Across the collected corpus, the gene HNF1B co-occurs with growth, gut and nutrition in 51 independent documents (of 177 documents mentioning HNF1B and 65 mentioning growth, gut and nutrition). Association strength 0.29.
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2026-11-13 00:54 HNF1B appears alongside the heart in 45 sources
Across the collected corpus, the gene HNF1B co-occurs with the heart in 45 independent documents (of 177 documents mentioning HNF1B and 85 mentioning the heart). Association strength 0.25.
2026-11-13 00:54 HNF1B appears alongside the heart in 45 sources
Across the collected corpus, the gene HNF1B co-occurs with the heart in 45 independent documents (of 177 documents mentioning HNF1B and 85 mentioning the heart). Association strength 0.25.
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2026-11-13 00:54 LHX1 appears alongside kidney and urinary tract in 40 sources
Across the collected corpus, the gene LHX1 co-occurs with kidney and urinary tract in 40 independent documents (of 45 documents mentioning LHX1 and 241 mentioning kidney and urinary tract). Association strength 0.17.
2026-11-13 00:54 LHX1 appears alongside kidney and urinary tract in 40 sources
Across the collected corpus, the gene LHX1 co-occurs with kidney and urinary tract in 40 independent documents (of 45 documents mentioning LHX1 and 241 mentioning kidney and urinary tract). Association strength 0.17.
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2026-11-13 00:54 HNF1B appears alongside skeleton and limbs in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with skeleton and limbs in 30 independent documents (of 177 documents mentioning HNF1B and 55 mentioning skeleton and limbs). Association strength 0.17.
2026-11-13 00:54 HNF1B appears alongside skeleton and limbs in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with skeleton and limbs in 30 independent documents (of 177 documents mentioning HNF1B and 55 mentioning skeleton and limbs). Association strength 0.17.
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2026-11-13 00:54 HNF1B appears alongside tumour risk in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with tumour risk in 30 independent documents (of 177 documents mentioning HNF1B and 93 mentioning tumour risk). Association strength 0.17.
2026-11-13 00:54 HNF1B appears alongside tumour risk in 30 sources
Across the collected corpus, the gene HNF1B co-occurs with tumour risk in 30 independent documents (of 177 documents mentioning HNF1B and 93 mentioning tumour risk). Association strength 0.17.
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2026-11-13 00:54 LHX1 appears alongside genital and müllerian development in 29 sources
Across the collected corpus, the gene LHX1 co-occurs with genital and müllerian development in 29 independent documents (of 45 documents mentioning LHX1 and 121 mentioning genital and müllerian development)....
2026-11-13 00:54 LHX1 appears alongside genital and müllerian development in 29 sources
Across the collected corpus, the gene LHX1 co-occurs with genital and müllerian development in 29 independent documents (of 45 documents mentioning LHX1 and 121 mentioning genital and müllerian development)....
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2026-11-13 00:54 LHX1 appears alongside diabetes and metabolism in 28 sources
Across the collected corpus, the gene LHX1 co-occurs with diabetes and metabolism in 28 independent documents (of 45 documents mentioning LHX1 and 197 mentioning diabetes and metabolism). Association strength 0.14.
2026-11-13 00:54 LHX1 appears alongside diabetes and metabolism in 28 sources
Across the collected corpus, the gene LHX1 co-occurs with diabetes and metabolism in 28 independent documents (of 45 documents mentioning LHX1 and 197 mentioning diabetes and metabolism). Association strength 0.14.
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2026-11-13 00:54 HNF1B appears alongside eyes, ears and hearing in 26 sources
Across the collected corpus, the gene HNF1B co-occurs with eyes, ears and hearing in 26 independent documents (of 177 documents mentioning HNF1B and 47 mentioning eyes, ears and hearing). Association strength 0.15.
2026-11-13 00:54 HNF1B appears alongside eyes, ears and hearing in 26 sources
Across the collected corpus, the gene HNF1B co-occurs with eyes, ears and hearing in 26 independent documents (of 177 documents mentioning HNF1B and 47 mentioning eyes, ears and hearing). Association strength 0.15.
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2026-11-13 00:54 LHX1 appears alongside learning, speech and behaviour in 22 sources
Across the collected corpus, the gene LHX1 co-occurs with learning, speech and behaviour in 22 independent documents (of 45 documents mentioning LHX1 and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 LHX1 appears alongside learning, speech and behaviour in 22 sources
Across the collected corpus, the gene LHX1 co-occurs with learning, speech and behaviour in 22 independent documents (of 45 documents mentioning LHX1 and 155 mentioning learning, speech and behaviour). Association...
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2026-11-13 00:54 LHX1 appears alongside liver and gallbladder in 17 sources
Across the collected corpus, the gene LHX1 co-occurs with liver and gallbladder in 17 independent documents (of 45 documents mentioning LHX1 and 109 mentioning liver and gallbladder). Association strength 0.16.
2026-11-13 00:54 LHX1 appears alongside liver and gallbladder in 17 sources
Across the collected corpus, the gene LHX1 co-occurs with liver and gallbladder in 17 independent documents (of 45 documents mentioning LHX1 and 109 mentioning liver and gallbladder). Association strength 0.16.
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2026-11-13 00:54 LHX1 appears alongside skeleton and limbs in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with skeleton and limbs in 15 independent documents (of 45 documents mentioning LHX1 and 55 mentioning skeleton and limbs). Association strength 0.27.
2026-11-13 00:54 LHX1 appears alongside skeleton and limbs in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with skeleton and limbs in 15 independent documents (of 45 documents mentioning LHX1 and 55 mentioning skeleton and limbs). Association strength 0.27.
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2026-11-13 00:54 LHX1 appears alongside the heart in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with the heart in 15 independent documents (of 45 documents mentioning LHX1 and 85 mentioning the heart). Association strength 0.18.
2026-11-13 00:54 LHX1 appears alongside the heart in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with the heart in 15 independent documents (of 45 documents mentioning LHX1 and 85 mentioning the heart). Association strength 0.18.
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2026-11-13 00:54 ACACA appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene ACACA co-occurs with learning, speech and behaviour in 13 independent documents (of 21 documents mentioning ACACA and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 ACACA appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene ACACA co-occurs with learning, speech and behaviour in 13 independent documents (of 21 documents mentioning ACACA and 155 mentioning learning, speech and behaviour). Association...
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2026-11-13 00:54 PIGW appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene PIGW co-occurs with learning, speech and behaviour in 13 independent documents (of 18 documents mentioning PIGW and 155 mentioning learning, speech and behaviour). Association...
2026-11-13 00:54 PIGW appears alongside learning, speech and behaviour in 13 sources
Across the collected corpus, the gene PIGW co-occurs with learning, speech and behaviour in 13 independent documents (of 18 documents mentioning PIGW and 155 mentioning learning, speech and behaviour). Association...
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2026-11-13 00:54 LHX1 appears alongside growth, gut and nutrition in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with growth, gut and nutrition in 11 independent documents (of 45 documents mentioning LHX1 and 65 mentioning growth, gut and nutrition). Association strength 0.17.
2026-11-13 00:54 LHX1 appears alongside growth, gut and nutrition in 11 sources
Across the collected corpus, the gene LHX1 co-occurs with growth, gut and nutrition in 11 independent documents (of 45 documents mentioning LHX1 and 65 mentioning growth, gut and nutrition). Association strength 0.17.
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2026-11-13 00:54 ACACA appears alongside liver and gallbladder in 11 sources
Across the collected corpus, the gene ACACA co-occurs with liver and gallbladder in 11 independent documents (of 21 documents mentioning ACACA and 109 mentioning liver and gallbladder). Association strength 0.10.
2026-11-13 00:54 ACACA appears alongside liver and gallbladder in 11 sources
Across the collected corpus, the gene ACACA co-occurs with liver and gallbladder in 11 independent documents (of 21 documents mentioning ACACA and 109 mentioning liver and gallbladder). Association strength 0.10.
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2026-11-13 00:54 ZNHIT3 appears alongside liver and gallbladder in 10 sources
Across the collected corpus, the gene ZNHIT3 co-occurs with liver and gallbladder in 10 independent documents (of 14 documents mentioning ZNHIT3 and 109 mentioning liver and gallbladder). Association strength 0.09.
2026-11-13 00:54 ZNHIT3 appears alongside liver and gallbladder in 10 sources
Across the collected corpus, the gene ZNHIT3 co-occurs with liver and gallbladder in 10 independent documents (of 14 documents mentioning ZNHIT3 and 109 mentioning liver and gallbladder). Association strength 0.09.
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2026-11-13 00:54 PIGW appears alongside liver and gallbladder in 9 sources
Across the collected corpus, the gene PIGW co-occurs with liver and gallbladder in 9 independent documents (of 18 documents mentioning PIGW and 109 mentioning liver and gallbladder). Association strength 0.08.
2026-11-13 00:54 PIGW appears alongside liver and gallbladder in 9 sources
Across the collected corpus, the gene PIGW co-occurs with liver and gallbladder in 9 independent documents (of 18 documents mentioning PIGW and 109 mentioning liver and gallbladder). Association strength 0.08.
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2026-11-13 00:54 LHX1 appears alongside eyes, ears and hearing in 6 sources
Across the collected corpus, the gene LHX1 co-occurs with eyes, ears and hearing in 6 independent documents (of 45 documents mentioning LHX1 and 47 mentioning eyes, ears and hearing). Association strength 0.13.
2026-11-13 00:54 LHX1 appears alongside eyes, ears and hearing in 6 sources
Across the collected corpus, the gene LHX1 co-occurs with eyes, ears and hearing in 6 independent documents (of 45 documents mentioning LHX1 and 47 mentioning eyes, ears and hearing). Association strength 0.13.
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2026-11-13 00:54 PIGW appears alongside growth, gut and nutrition in 6 sources
Across the collected corpus, the gene PIGW co-occurs with growth, gut and nutrition in 6 independent documents (of 18 documents mentioning PIGW and 65 mentioning growth, gut and nutrition). Association strength 0.09.
2026-11-13 00:54 PIGW appears alongside growth, gut and nutrition in 6 sources
Across the collected corpus, the gene PIGW co-occurs with growth, gut and nutrition in 6 independent documents (of 18 documents mentioning PIGW and 65 mentioning growth, gut and nutrition). Association strength 0.09.
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2026-11-13 00:54 PIGW appears alongside eyes, ears and hearing in 4 sources
Across the collected corpus, the gene PIGW co-occurs with eyes, ears and hearing in 4 independent documents (of 18 documents mentioning PIGW and 47 mentioning eyes, ears and hearing). Association strength 0.09.
2026-11-13 00:54 PIGW appears alongside eyes, ears and hearing in 4 sources
Across the collected corpus, the gene PIGW co-occurs with eyes, ears and hearing in 4 independent documents (of 18 documents mentioning PIGW and 47 mentioning eyes, ears and hearing). Association strength 0.09.
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data,...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction,...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination…
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new…
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discove…
A source describes a new or expanded observation: “Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discove…
A source describes a new or expanded observation: “Our exome-wide burden analyses redemonstrated the role of known epilepsy genes with improved power and discovered potential novel rare risk variants for different...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 4…
A source describes a new or expanded observation: “We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 4…
A source describes a new or expanded observation: “We identified a total of 56 distinct protein-truncating URVs in GATOR1 ( Supplementary Data 5 ), among which 45 appeared novel according to the most recent study of...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome…
A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome…
A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: For the first time, we delineated and described the smallest minimal critical region, including the single BDH…
A source describes a new or expanded observation: “For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: For the first time, we delineated and described the smallest minimal critical region, including the single BDH…
A source describes a new or expanded observation: “For the first time, we delineated and described the smallest minimal critical region, including the single BDH1 gene; in our patients, this region was associated...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-on…
A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-on…
A source describes a new or expanded observation: “Finally, we described P2, a girl with severe neurological presentation, developmental regression, and early-onset, progressive, uncontrollable epilepsy.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and exp…
A source describes a new or expanded observation: “In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and exp…
A source describes a new or expanded observation: “In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the develo…
A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the develo…
A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neu…
A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neu…
A source describes a new or expanded observation: “P2 was the first reported patient with a PIGW frameshift variant in trans with a missense one, with severe neurologic presentation, epilepsy and bilateral hydronephrosis.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro mod…
A source describes a new or expanded observation: “Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro model systems to understand their roles in abnormal kidney...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro mod…
A source describes a new or expanded observation: “Identified novel genetic and environmental factors will be functionally studied using in vivo and in vitro model systems to understand their roles in abnormal kidney...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain netwo…
A source describes a new or expanded observation: “Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain network analysis of POE may also yield novel findings.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain netwo…
A source describes a new or expanded observation: “Moreover, the network neuroscience concept can also be applied to psychiatric disorders [ 58 ], so brain network analysis of POE may also yield novel findings.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, pa…
A source describes a new or expanded observation: “Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, particularly those with a history of psychiatric...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, pa…
A source describes a new or expanded observation: “Consequently, it is imperative to closely monitor the emergence of psychotic symptoms in epilepsy patients, particularly those with a history of psychiatric...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic f…
A source describes a new or expanded observation: “The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic factors discussed in this review may offer insights into...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic f…
A source describes a new or expanded observation: “The alterations in brain structure and function, neurotransmitters, neuroinflammatory mediators, and genetic factors discussed in this review may offer insights into...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified …
A source describes a new or expanded observation: “Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified …
A source describes a new or expanded observation: “Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pa…
A source describes a new or expanded observation: “Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pa…
A source describes a new or expanded observation: “Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first repo…
A source describes a new or expanded observation: “One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first reported case in the literature that demonstrated a...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first repo…
A source describes a new or expanded observation: “One of these cases had a 7q11.23 deletion, while another had Williams-Beuren syndrome, which is the first reported case in the literature that demonstrated a...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary vei…
A source describes a new or expanded observation: “A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary vei…
A source describes a new or expanded observation: “A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes…
A source describes a new or expanded observation: “Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes…
A source describes a new or expanded observation: “Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B ge…
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B ge…
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which …
A source describes a new or expanded observation: “Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which a given gene is associated with a particular form of...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which …
A source describes a new or expanded observation: “Because novel gene-disease associations are regularly reported, there is a need to assess the extent to which a given gene is associated with a particular form of...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting wi…
A source describes a new or expanded observation: “We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting wi…
A source describes a new or expanded observation: “We describe a neonatal case of severe cholestasis with low gamma glutamyl transferase in a child presenting with multiple abnormalities, including pituitary stalk...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic fe…
A source describes a new or expanded observation: “We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS)...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic fe…
A source describes a new or expanded observation: “We describe the workup and follow-up of an infantile case of severe cholestasis in a patient with syndromic features (including hypopituitarism secondary to PSIS)...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a no…
A source describes a new or expanded observation: “Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a no…
A source describes a new or expanded observation: “Another case of compound heterozygosity was described in a study conducted by Malerba et al.; they report a novel case of a 2.5-year-old female with ASD who is a...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders…
A source describes a new or expanded observation: “Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders…
A source describes a new or expanded observation: “Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism…
A source describes a new or expanded observation: “Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism…
A source describes a new or expanded observation: “Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and au…
A source describes a new or expanded observation: “A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and au…
A source describes a new or expanded observation: “A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: 12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, …
A source describes a new or expanded observation: “12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, to validate our cell line and its relevance to ASD.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: 12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, …
A source describes a new or expanded observation: “12 In addition, we developed a novel ASD model mouse, 15q13.3 deletion, which deletes both Chrna7 and Otud7a, to validate our cell line and its relevance to ASD.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b…
A source describes a new or expanded observation: “These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b levels in the mTOR pathway, may implicate the novel...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b…
A source describes a new or expanded observation: “These translational abnormalities, especially in both glutamatergic and GABAergic neurons with decreased Upf3b levels in the mTOR pathway, may implicate the novel...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a l…
A source describes a new or expanded observation: “We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a l…
A source describes a new or expanded observation: “We report the case of a 20-year-old woman with a notable family history of MM (mother and grandmother with a longitudinal vaginal septum and aunt with a bicornuate...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diag…
A source describes a new or expanded observation: “In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diagnosed during her first pregnancy.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diag…
A source describes a new or expanded observation: “In this paper, we report the case of a woman with a previous diagnosis of type 1 diabetes whose MODY5 was diagnosed during her first pregnancy.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder sha…
A source describes a new or expanded observation: “Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder sha…
A source describes a new or expanded observation: “Altogether, these findings indicate that CAKUT, congenital heart disease, ID, and autism spectrum disorder share underlying genetic mechanisms and pathways and point...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RE…
A source describes a new or expanded observation: “Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RE…
A source describes a new or expanded observation: “Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sam…
A source describes a new or expanded observation: “This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sample and what pathways may be represented by these...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sam…
A source describes a new or expanded observation: “This study demonstrated a means of identifying potentially clinically relevant genes involved in CNAs of a sample and what pathways may be represented by these...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: OGM enables precise visualization of complex structural variations, providing deeper insights into genomic arc…
A source describes a new or expanded observation: “OGM enables precise visualization of complex structural variations, providing deeper insights into genomic architecture, prognostic implications, and potential novel...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: OGM enables precise visualization of complex structural variations, providing deeper insights into genomic arc…
A source describes a new or expanded observation: “OGM enables precise visualization of complex structural variations, providing deeper insights into genomic architecture, prognostic implications, and potential novel...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes…
A source describes a new or expanded observation: “Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes…
A source describes a new or expanded observation: “Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY…
A source describes a new or expanded observation: “To our knowledge, this is the first reported case of concurrent ALS and HNF1B-MODY.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS…
A source describes a new or expanded observation: “Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS…
A source describes a new or expanded observation: “Here, we report the case of a patient with genetically confirmed HNF1B-MODY who was later diagnosed with ALS.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “Learning Points This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY…
A source describes a new or expanded observation: “This is the first reported case of ALS coexisting with genetically confirmed HNF1B-MODY.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 an…
A source describes a new or expanded observation: “These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 and examining rates of kidney growth in children with ADPKD 77 .”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 an…
A source describes a new or expanded observation: “These include developing novel quantitative magnetic resonance imaging (MRI) methodologies in ARPKD 75 , 76 and examining rates of kidney growth in children with ADPKD 77 .”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q i…
A source describes a new or expanded observation: “Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q i…
A source describes a new or expanded observation: “Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar …
A source describes a new or expanded observation: “Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar …
A source describes a new or expanded observation: “Novel or rarely reported neuroradiological findings were associated with the following genes: Pontocerebellar hypoplasia ( ACTB ), progressive cerebellar atrophy...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the publi…
A source describes a new or expanded observation: “The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the published literature, except for specific novel findings in...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the publi…
A source describes a new or expanded observation: “The genotype‐to‐phenotype correlations we found in the PEDIATAX cohort were consistent with those in the published literature, except for specific novel findings in...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function …
A source describes a new or expanded observation: “Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function and kidney health.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function …
A source describes a new or expanded observation: “Studies could evaluate novel therapeutic approaches, such as targeted therapies to improve beta cell function and kidney health.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybr…
A source describes a new or expanded observation: “To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybridization on a set of 22 human pancreatic cancer cell...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybr…
A source describes a new or expanded observation: “To identify such novel alterations and to discover the underlying genes, we performed comparative genomic hybridization on a set of 22 human pancreatic cancer cell...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe the first example of a recurrent genomic disorder associated with diabetes…
A source describes a new or expanded observation: “We describe the first example of a recurrent genomic disorder associated with diabetes.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe the first example of a recurrent genomic disorder associated with diabetes…
A source describes a new or expanded observation: “We describe the first example of a recurrent genomic disorder associated with diabetes.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-relate…
A source describes a new or expanded observation: “Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-related genes that are potentially involved in the evolution...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-relate…
A source describes a new or expanded observation: “Thus, this SNP-chip analysis has identified several early cytogenetic events and novel candidate cancer-related genes that are potentially involved in the evolution...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene…
A source describes a new or expanded observation: “Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene…
A source describes a new or expanded observation: “Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associat…
A source describes a new or expanded observation: “These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associated with Müllerian aplasia, four cases of microdeletion...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associat…
A source describes a new or expanded observation: “These comprised four cases of microdeletion at 16p11.2, an autism susceptibility locus not previously associated with Müllerian aplasia, four cases of microdeletion...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving compl…
A source describes a new or expanded observation: “Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving compl…
A source describes a new or expanded observation: “Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phen…
A source describes a new or expanded observation: “To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phen…
A source describes a new or expanded observation: “To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical moveme…
A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical moveme…
A source describes a new or expanded observation: “We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present ca…
A source describes a new or expanded observation: “We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present ca…
A source describes a new or expanded observation: “We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1…
A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1…
A source describes a new or expanded observation: “In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in whic…
A source describes a new or expanded observation: “Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in whic…
A source describes a new or expanded observation: “Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of…
A source describes a new or expanded observation: “We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of…
A source describes a new or expanded observation: “We report clinical, cytogenetic and molecular investigations of a 13 years-old girl admitted for evaluation of microcephaly, scoliosis, skeletal defects and learning...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These changes correspond to putative alternative isoforms-several of which are novel-that are differentially e…
A source describes a new or expanded observation: “These changes correspond to putative alternative isoforms-several of which are novel-that are differentially expressed between tumors of varying metastatic phenotypes.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: These changes correspond to putative alternative isoforms-several of which are novel-that are differentially e…
A source describes a new or expanded observation: “These changes correspond to putative alternative isoforms-several of which are novel-that are differentially expressed between tumors of varying metastatic phenotypes.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remainin…
A source describes a new or expanded observation: “Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remaining candidates have no established link with cancer...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remainin…
A source describes a new or expanded observation: “Half of these genes are known to be associated with cancer hallmarks and genetic disorders, while the remaining candidates have no established link with cancer...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons…
A source describes a new or expanded observation: “Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons…
A source describes a new or expanded observation: “Therefore they are novel splicing events and elongate the list of the ten CD44 cancer-specific variable exons.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast can…
A source describes a new or expanded observation: “It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast cancer metastasis.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast can…
A source describes a new or expanded observation: “It is tempting to speculate that these genes may represent novel oncogenes or specific modifiers of breast cancer metastasis.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas…
A source describes a new or expanded observation: “Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas…
A source describes a new or expanded observation: “Homozygous deletions localize novel tumor suppressor genes in B-cell lymphomas.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian…
A source describes a new or expanded observation: “Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian Duct Anomalies," Human Reproduction 31, no.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian…
A source describes a new or expanded observation: “Wang X., Zhang X., Liu S., et al., "Novel Mutations in the TP63 Gene Are Potentially Associated With Müllerian Duct Anomalies," Human Reproduction 31, no.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expans…
A source describes a new or expanded observation: “S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies,"...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expans…
A source describes a new or expanded observation: “S., "A Novel Mutation of HOXA13 in a Family With Hand‐Foot‐Genital Syndrome and the Role of Polyalanine Expansions in the Spectrum of Müllerian Fusion Anomalies,"...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly,…
A source describes a new or expanded observation: “Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly," Human Reproduction 26, no.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly,…
A source describes a new or expanded observation: “Cheng Z., Zhu Y., Su D., et al., "A Novel Mutation of HOXA10 in a Chinese Woman With a Mullerian Duct Anomaly," Human Reproduction 26, no.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European…
A source describes a new or expanded observation: “Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European Journal of Obstetrics, Gynecology, and Reproductive...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European…
A source describes a new or expanded observation: “Chen S., Sun Y., Fan Y., et al., "HOXD10: A Novel Gene Implicated in Human Müllerian Duct Anomalies," European Journal of Obstetrics, Gynecology, and Reproductive...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a T…
A source describes a new or expanded observation: “Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a Three‐Generation Family With Renal...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a T…
A source describes a new or expanded observation: “Wu S., Wang X., Dai S., Zhang G., Zhou J., and Shen Y., "A Novel Missense Mutation in GREB1L Identified in a Three‐Generation Family With Renal...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a N…
A source describes a new or expanded observation: “D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, no.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a N…
A source describes a new or expanded observation: “D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, no.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT…
A source describes a new or expanded observation: “S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT…
A source describes a new or expanded observation: “S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by …
A source describes a new or expanded observation: “Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by …
A source describes a new or expanded observation: “Nonetheless, it is still underdiagnosed, because it is often considered a rare disorder that is manifested by the clinical findings seen in fully established disease...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: (2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: (2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(2C ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: (1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: (1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy v…
A source describes a new or expanded observation: “(1B ) Treatment of Hemochromatosis Although there has never been a randomized controlled trial of phlebotomy versus no phlebotomy in treatment of HH, there is...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis…
A source describes a new or expanded observation: “A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis…
A source describes a new or expanded observation: “A novel mutation in HNF1B promotes ferroptosis-mediated renal mesangial cells fibrosis.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-…
A source describes a new or expanded observation: “Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-…
A source describes a new or expanded observation: “Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has …
A source describes a new or expanded observation: “Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has long been recognized as a concomitant alteration of...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has …
A source describes a new or expanded observation: “Since Rickards first reported the phenomenon of renal lipid deposition in 1883, this pathological feature has long been recognized as a concomitant alteration of...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor i…
A source describes a new or expanded observation: “Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor independent of the systemic metabolic state,...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor i…
A source describes a new or expanded observation: “Recent evidence suggests that localized lipid deposition in the kidney can act as a direct pathogenic factor independent of the systemic metabolic state,...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis…
A source describes a new or expanded observation: “Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis…
A source describes a new or expanded observation: “Emerging evidence implicates HNF-1 dysregulation as a critical modulator of renal lipid homeostasis.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HN…
A source describes a new or expanded observation: “Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HNF1-mediated regulatory networks, providing novel...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HN…
A source describes a new or expanded observation: “Although research on renal lipid metabolism remains limited, emerging studies have outlined the contours of HNF1-mediated regulatory networks, providing novel...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously…
A source describes a new or expanded observation: “This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously promotes cholesterol export and limits exogenous...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously…
A source describes a new or expanded observation: “This coordinated regulation suggests the existence of a multidimensional protective system that simultaneously promotes cholesterol export and limits exogenous...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a …
A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a …
A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX…
A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX…
A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of t…
A source describes a new or expanded observation: “Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of t…
A source describes a new or expanded observation: “Here, we report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 harboring a partial deletion of...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests th…
A source describes a new or expanded observation: “Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests that environmental and metabolic modifiers, such as...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests th…
A source describes a new or expanded observation: “Although obesity and insulin resistance are not typical findings in HNF1A -MODY, emerging evidence suggests that environmental and metabolic modifiers, such as...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of t…
A source describes a new or expanded observation: “The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of t…
A source describes a new or expanded observation: “The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: 12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left ingui…
A source describes a new or expanded observation: “12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left inguinal hernia, and left renal fusion with malrotation, and...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: 12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left ingui…
A source describes a new or expanded observation: “12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left inguinal hernia, and left renal fusion with malrotation, and...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal f…
A source describes a new or expanded observation: “In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal f…
A source describes a new or expanded observation: “In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agene…
A source describes a new or expanded observation: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agene…
A source describes a new or expanded observation: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the …
A source describes a new or expanded observation: “This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the …
A source describes a new or expanded observation: “This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and …
A source describes a new or expanded observation: “The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and …
A source describes a new or expanded observation: “The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature…
A source describes a new or expanded observation: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature…
A source describes a new or expanded observation: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The objectives were to define the clinical and phenotypic variability within this cohort, identify previously …
A source describes a new or expanded observation: “The objectives were to define the clinical and phenotypic variability within this cohort, identify previously unreported (novel) mutations, and determine the...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The objectives were to define the clinical and phenotypic variability within this cohort, identify previously …
A source describes a new or expanded observation: “The objectives were to define the clinical and phenotypic variability within this cohort, identify previously unreported (novel) mutations, and determine the...
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MR…
A source describes a new or expanded observation: “To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MRI.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MR…
A source describes a new or expanded observation: “To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MRI.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism d…
A source describes a new or expanded observation: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism d…
A source describes a new or expanded observation: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with …
A source describes a new or expanded observation: “In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with …
A source describes a new or expanded observation: “In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-depe…
A source describes a new or expanded observation: “Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-depe…
A source describes a new or expanded observation: “Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].”
inzicht toegevoegd
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with prec…
A source describes a new or expanded observation: “We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with prec…
A source describes a new or expanded observation: “We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional inform…
A source describes a new or expanded observation: “CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional inform…
A source describes a new or expanded observation: “CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution…
A source describes a new or expanded observation: “The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution of renal parenchymal hyperechogenicity, without...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution…
A source describes a new or expanded observation: “The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution of renal parenchymal hyperechogenicity, without...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormal…
A source describes a new or expanded observation: “Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormal…
A source describes a new or expanded observation: “Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration…
A source describes a new or expanded observation: “Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration and invasion, the relative functional significance and...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration…
A source describes a new or expanded observation: “Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration and invasion, the relative functional significance and...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Conclusions This is the first report of social anxiety disorder in ACC patients…
A source describes a new or expanded observation: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Conclusions This is the first report of social anxiety disorder in ACC patients…
A source describes a new or expanded observation: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with com…
A source describes a new or expanded observation: “Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with comorbid social anxiety disorder, and accompanied by...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with com…
A source describes a new or expanded observation: “Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with comorbid social anxiety disorder, and accompanied by...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, a…
A source describes a new or expanded observation: “That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, and passive withdrawal in novel situations [ 39 ], may...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, a…
A source describes a new or expanded observation: “That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, and passive withdrawal in novel situations [ 39 ], may...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In summary, this is the first report of an ACC patient combined with social anxiety disorder…
A source describes a new or expanded observation: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: In summary, this is the first report of an ACC patient combined with social anxiety disorder…
A source describes a new or expanded observation: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary micr…
A source describes a new or expanded observation: “Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS):...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary micr…
A source describes a new or expanded observation: “Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS):...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: 36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, inclu…
A source describes a new or expanded observation: “36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, including a novel MCPH1 mutation associated with autosomal...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: 36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, inclu…
A source describes a new or expanded observation: “36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, including a novel MCPH1 mutation associated with autosomal...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the y…
A source describes a new or expanded observation: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood…
A source describes a new or expanded observation: “This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood…
A source describes a new or expanded observation: “This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperin…
A source describes a new or expanded observation: “Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperin…
A source describes a new or expanded observation: “Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose...
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2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell f…
A source describes a new or expanded observation: “Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell function, shifting the management paradigm from pure...
2026-11-13 00:54 Nieuwe waarneming gerapporteerd: Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell f…
A source describes a new or expanded observation: “Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell function, shifting the management paradigm from pure...
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2026-11-13 00:54 HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls
A source reports “99.9%” in the context of general: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
2026-11-13 00:54 HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls
A source reports “99.9%” in the context of general: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
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2026-11-13 00:54 Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1
A source reports “1%” in the context of general: “Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1% frequency.”
2026-11-13 00:54 Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1
A source reports “1%” in the context of general: “Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1% frequency.”
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2026-11-13 00:54 Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥
A source reports “2.5%” in the context of general: “Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4)...
2026-11-13 00:54 Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥
A source reports “2.5%” in the context of general: “Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4)...
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2026-11-13 00:54 Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epile
A source reports “0.005%” in the context of neurodevelopment: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis...
2026-11-13 00:54 Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epile
A source reports “0.005%” in the context of neurodevelopment: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis...
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2026-11-13 00:54 This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy ca
A source reports “90%” in the context of neurodevelopment: “This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980...
2026-11-13 00:54 This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy ca
A source reports “90%” in the context of neurodevelopment: “This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980...
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2026-11-13 00:54 To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exo
A source reports “0.1%” in the context of general: “To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a...
2026-11-13 00:54 To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exo
A source reports “0.1%” in the context of general: “To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a...
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2026-11-13 00:54 1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological condi
A source reports “000 individuals” in the context of neurodevelopment: “1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological conditions.”
2026-11-13 00:54 1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological condi
A source reports “000 individuals” in the context of neurodevelopment: “1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological conditions.”
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2026-11-13 00:54 After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 contr
A source reports “979 individuals” in the context of neurodevelopment: “After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 controls without known...
2026-11-13 00:54 After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 contr
A source reports “979 individuals” in the context of neurodevelopment: “After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 controls without known...
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2026-11-13 00:54 We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosi
A source reports “938 individuals” in the context of neurodevelopment: “We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosis of a DEE, 5,499 with...
2026-11-13 00:54 We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosi
A source reports “938 individuals” in the context of neurodevelopment: “We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosis of a DEE, 5,499 with...
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2026-11-13 00:54 7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20%
A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort...
2026-11-13 00:54 7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20%
A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort...
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2026-11-13 00:54 Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc
A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations...
2026-11-13 00:54 Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc
A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations...
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2026-11-13 00:54 The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three N
A source reports “94.1%” in the context of neurodevelopment: “The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three NDD gene sets.”
2026-11-13 00:54 The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three N
A source reports “94.1%” in the context of neurodevelopment: “The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three NDD gene sets.”
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2026-11-13 00:54 It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chr
A source reports “69.4%” in the context of general: “It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chromosomal abnormalities of isolated NVFGB in...
2026-11-13 00:54 It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chr
A source reports “69.4%” in the context of general: “It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chromosomal abnormalities of isolated NVFGB in...
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2026-11-13 00:54 Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ]
A source reports “5.9%” in the context of general: “Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ].”
2026-11-13 00:54 Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ]
A source reports “5.9%” in the context of general: “Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ].”
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2026-11-13 00:54 An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than
A source reports “15 individuals” in the context of general: “An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide...
2026-11-13 00:54 An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than
A source reports “15 individuals” in the context of general: “An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide...
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2026-11-13 00:54 Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age
A source reports “45%” in the context of growth nutrition: “Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age.”
2026-11-13 00:54 Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age
A source reports “45%” in the context of growth nutrition: “Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age.”
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2026-11-13 00:54 The features observed in patients with recurrent and large overlapping duplications also significantly complement the kn
A source reports “3%” in the context of neurodevelopment: “The features observed in patients with recurrent and large overlapping duplications also significantly complement the known symptoms; musculoskeletal, brain,...
2026-11-13 00:54 The features observed in patients with recurrent and large overlapping duplications also significantly complement the kn
A source reports “3%” in the context of neurodevelopment: “The features observed in patients with recurrent and large overlapping duplications also significantly complement the known symptoms; musculoskeletal, brain,...
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2026-11-13 00:54 The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial co
A source reports “88.9%” in the context of neurodevelopment: “The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial control or uncontrolled epilepsy...
2026-11-13 00:54 The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial co
A source reports “88.9%” in the context of neurodevelopment: “The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial control or uncontrolled epilepsy...
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2026-11-13 00:54 We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Ou
A source reports “3750 individuals” in the context of kidney: “We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Outcome (ArtDECO) consortium, a...
2026-11-13 00:54 We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Ou
A source reports “3750 individuals” in the context of kidney: “We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Outcome (ArtDECO) consortium, a...
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2026-11-13 00:54 While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tra
A source reports “50%” in the context of kidney: “While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of...
2026-11-13 00:54 While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tra
A source reports “50%” in the context of kidney: “While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of...
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2026-11-13 00:54 Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic arch
A source reports “20%” in the context of kidney: “Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic architecture of CAKUT Given the early observations...
2026-11-13 00:54 Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic arch
A source reports “20%” in the context of kidney: “Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic architecture of CAKUT Given the early observations...
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2026-11-13 00:54 To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of
A source reports “384 cases” in the context of kidney: “To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of 93,384 cases and 9,244,968 controls...
2026-11-13 00:54 To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of
A source reports “384 cases” in the context of kidney: “To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of 93,384 cases and 9,244,968 controls...
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2026-11-13 00:54 However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 pat
A source reports “21 patients” in the context of neurodevelopment: “However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 patients with POE and 23...
2026-11-13 00:54 However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 pat
A source reports “21 patients” in the context of neurodevelopment: “However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 patients with POE and 23...
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2026-11-13 00:54 A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individua
A source reports “8256 individuals” in the context of neurodevelopment: “A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individuals, revealed...
2026-11-13 00:54 A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individua
A source reports “8256 individuals” in the context of neurodevelopment: “A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individuals, revealed...
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2026-11-13 00:54 One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA rec
A source reports “11%” in the context of neurodevelopment: “One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA receptors, voltage-gated potassium...
2026-11-13 00:54 One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA rec
A source reports “11%” in the context of neurodevelopment: “One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA receptors, voltage-gated potassium...
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2026-11-13 00:54 A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for
A source reports “5.6%” in the context of neurodevelopment: “A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for developing psychosis compared with...
2026-11-13 00:54 A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for
A source reports “5.6%” in the context of neurodevelopment: “A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for developing psychosis compared with...
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2026-11-13 00:54 In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7%
A source reports “7%” in the context of neurodevelopment: “In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7% (95% CI: 4.9-9.1%) [ 6 ], whereas the...
2026-11-13 00:54 In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7%
A source reports “7%” in the context of neurodevelopment: “In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7% (95% CI: 4.9-9.1%) [ 6 ], whereas the...
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2026-11-13 00:54 One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of posticta
A source reports “1434 patients” in the context of neurodevelopment: “One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of postictal psychosis was 3.7%.”
2026-11-13 00:54 One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of posticta
A source reports “1434 patients” in the context of neurodevelopment: “One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of postictal psychosis was 3.7%.”
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2026-11-13 00:54 A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four
A source reports “12 patients” in the context of neurodevelopment: “A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four patients worsened at 6...
2026-11-13 00:54 A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four
A source reports “12 patients” in the context of neurodevelopment: “A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four patients worsened at 6...
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2026-11-13 00:54 Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about
A source reports “25%” in the context of neurodevelopment: “Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about 25% of all POE [ 4 , 11 ].”
2026-11-13 00:54 Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about
A source reports “25%” in the context of neurodevelopment: “Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about 25% of all POE [ 4 , 11 ].”
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2026-11-13 00:54 Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about
A source reports “7.0%” in the context of neurodevelopment: “Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about 7.0% [ 17 , 31 ].”
2026-11-13 00:54 Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about
A source reports “7.0%” in the context of neurodevelopment: “Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about 7.0% [ 17 , 31 ].”
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2026-11-13 00:54 A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulatio
A source reports “48.5%” in the context of neurodevelopment: “A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulation (VNS) (13.6%).”
2026-11-13 00:54 A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulatio
A source reports “48.5%” in the context of neurodevelopment: “A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulation (VNS) (13.6%).”
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2026-11-13 00:54 Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new d
A source reports “2067 patients” in the context of neurodevelopment: “Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new drug (either ASMs or...
2026-11-13 00:54 Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new d
A source reports “2067 patients” in the context of neurodevelopment: “Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new drug (either ASMs or...
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2026-11-13 00:54 The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (
A source reports “5.8%” in the context of neurodevelopment: “The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (5.8%) and lamotrigine (3.7%).”
2026-11-13 00:54 The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (
A source reports “5.8%” in the context of neurodevelopment: “The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (5.8%) and lamotrigine (3.7%).”
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2026-11-13 00:54 A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and ea
A source reports “50 patients” in the context of neurodevelopment: “A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and each subregion and found that...
2026-11-13 00:54 A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and ea
A source reports “50 patients” in the context of neurodevelopment: “A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and each subregion and found that...
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2026-11-13 00:54 BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versu
A source reports “38%” in the context of general: “BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versus 33% of FREM2 cases) ( 45 ).”
2026-11-13 00:54 BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versu
A source reports “38%” in the context of general: “BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versus 33% of FREM2 cases) ( 45 ).”
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2026-11-13 00:54 A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with
A source reports “37%” in the context of kidney: “A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with BRA and in 2/10 (20%) of those with URA ( 31...
2026-11-13 00:54 A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with
A source reports “37%” in the context of kidney: “A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with BRA and in 2/10 (20%) of those with URA ( 31...
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2026-11-13 00:54 Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy se
A source reports “10 cases” in the context of kidney: “Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy series of 10 cases of BRA yielded a...
2026-11-13 00:54 Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy se
A source reports “10 cases” in the context of kidney: “Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy series of 10 cases of BRA yielded a...
inzicht toegevoegd
2026-11-13 00:54 When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as
A source reports “2022 of 100” in the context of kidney: “When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as illustrated by a large series...
2026-11-13 00:54 When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as
A source reports “2022 of 100” in the context of kidney: “When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as illustrated by a large series...
inzicht toegevoegd
2026-11-13 00:54 BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be
A source reports “1 in 7,700” in the context of general: “BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be but one feature of a complex genetic...
2026-11-13 00:54 BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be
A source reports “1 in 7,700” in the context of general: “BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be but one feature of a complex genetic...
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2026-11-13 00:54 Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency
A source reports “40%” in the context of general: “Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].”
2026-11-13 00:54 Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency
A source reports “40%” in the context of general: “Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].”
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2026-11-13 00:54 For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inher
A source reports “18.2%” in the context of neurodevelopment: “For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inherited (0/51) and unknown group...
2026-11-13 00:54 For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inher
A source reports “18.2%” in the context of neurodevelopment: “For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inherited (0/51) and unknown group...
inzicht toegevoegd
2026-11-13 00:54 In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15
A source reports “5.2%” in the context of general: “In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15 .”
2026-11-13 00:54 In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15
A source reports “5.2%” in the context of general: “In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15 .”
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2026-11-13 00:54 A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal o
A source reports “141 families” in the context of general: “A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal origin 14 .”
2026-11-13 00:54 A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal o
A source reports “141 families” in the context of general: “A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal origin 14 .”
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2026-11-13 00:54 1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders a
A source reports “37 individuals” in the context of general: “1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders and recurrent sinopulmonary...
2026-11-13 00:54 1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders a
A source reports “37 individuals” in the context of general: “1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders and recurrent sinopulmonary...
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2026-11-13 00:54 1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Ice
A source reports “1 in 14,500” in the context of general: “1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Iceland.”
2026-11-13 00:54 1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Ice
A source reports “1 in 14,500” in the context of general: “1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Iceland.”
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2026-11-13 00:54 Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig
A source reports “52%” in the context of general: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
2026-11-13 00:54 Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig
A source reports “52%” in the context of general: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
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2026-11-13 00:54 The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in
A source reports “15 cases” in the context of diabetes metabolic: “The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in 13 cases (43.3%).”
2026-11-13 00:54 The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in
A source reports “15 cases” in the context of diabetes metabolic: “The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in 13 cases (43.3%).”
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2026-11-13 00:54 Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Backg
A source reports “1 in 5000” in the context of diabetes metabolic: “Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Background and Objectives :...
2026-11-13 00:54 Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Backg
A source reports “1 in 5000” in the context of diabetes metabolic: “Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Background and Objectives :...
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2026-11-13 00:54 The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ]
A source reports “1 in 20,000” in the context of diabetes metabolic: “The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ].”
2026-11-13 00:54 The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ]
A source reports “1 in 20,000” in the context of diabetes metabolic: “The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ].”
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2026-11-13 00:54 An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ]
A source reports “30%” in the context of diabetes metabolic: “An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ].”
2026-11-13 00:54 An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ]
A source reports “30%” in the context of diabetes metabolic: “An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ].”
inzicht toegevoegd
2026-11-13 00:54 But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obst
A source reports “40 percent” in the context of diabetes metabolic: “But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obstruction and related...
2026-11-13 00:54 But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obst
A source reports “40 percent” in the context of diabetes metabolic: “But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obstruction and related...
inzicht toegevoegd
2026-11-13 00:54 Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct grou
A source reports “13 cases” in the context of diabetes metabolic: “Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct groups based on their ethiology:...
2026-11-13 00:54 Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct grou
A source reports “13 cases” in the context of diabetes metabolic: “Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct groups based on their ethiology:...
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2026-11-13 00:54 Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annula
A source reports “46.2%” in the context of diabetes metabolic: “Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annular pancreas, with no significant...
2026-11-13 00:54 Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annula
A source reports “46.2%” in the context of diabetes metabolic: “Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annular pancreas, with no significant...
inzicht toegevoegd
2026-11-13 00:54 A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic
A source reports “100%” in the context of diabetes metabolic: “A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic band surrounding the duodenum (...
2026-11-13 00:54 A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic
A source reports “100%” in the context of diabetes metabolic: “A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic band surrounding the duodenum (...
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2026-11-13 00:54 Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the pren
A source reports “80%” in the context of diabetes metabolic: “Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the prenatal period [ 15 ].”
2026-11-13 00:54 Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the pren
A source reports “80%” in the context of diabetes metabolic: “Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the prenatal period [ 15 ].”
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2026-11-13 00:54 We found a 43% ratio of annular pancreas, which is slightly higher than previous studies
A source reports “43%” in the context of diabetes metabolic: “We found a 43% ratio of annular pancreas, which is slightly higher than previous studies.”
2026-11-13 00:54 We found a 43% ratio of annular pancreas, which is slightly higher than previous studies
A source reports “43%” in the context of diabetes metabolic: “We found a 43% ratio of annular pancreas, which is slightly higher than previous studies.”
inzicht toegevoegd
2026-11-13 00:54 2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function
A source reports “13%” in the context of diabetes metabolic: “2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function.”
2026-11-13 00:54 2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function
A source reports “13%” in the context of diabetes metabolic: “2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function.”
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2026-11-13 00:54 Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21
A source reports “63.9%” in the context of general: “Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21 ], mostly with trisomy 21.”
2026-11-13 00:54 Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21
A source reports “63.9%” in the context of general: “Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21 ], mostly with trisomy 21.”
inzicht toegevoegd
2026-11-13 00:54 More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs
A source reports “77%” in the context of diabetes metabolic: “More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs.”
2026-11-13 00:54 More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs
A source reports “77%” in the context of diabetes metabolic: “More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs.”
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2026-11-13 00:54 Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report o
A source reports “11 cases” in the context of diabetes metabolic: “Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report of 11 cases.”
2026-11-13 00:54 Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report o
A source reports “11 cases” in the context of diabetes metabolic: “Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report of 11 cases.”
inzicht toegevoegd
2026-11-13 00:54 Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for di
A source reports “74 individuals” in the context of diabetes metabolic: “Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for distinguishing T1D from...
2026-11-13 00:54 Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for di
A source reports “74 individuals” in the context of diabetes metabolic: “Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for distinguishing T1D from...
inzicht toegevoegd
2026-11-13 00:54 The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%)
A source reports “82%” in the context of diabetes metabolic: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
2026-11-13 00:54 The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%)
A source reports “82%” in the context of diabetes metabolic: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
inzicht toegevoegd
2026-11-13 00:54 Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CF
A source reports “5 individuals” in the context of diabetes metabolic: “Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with...
2026-11-13 00:54 Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CF
A source reports “5 individuals” in the context of diabetes metabolic: “Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with...
inzicht toegevoegd
2026-11-13 00:54 Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobi
A source reports “6.4%” in the context of diabetes metabolic: “Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobin A1c was 6.4%.”
2026-11-13 00:54 Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobi
A source reports “6.4%” in the context of diabetes metabolic: “Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobin A1c was 6.4%.”
inzicht toegevoegd
2026-11-13 00:54 Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin
A source reports “6.7%” in the context of diabetes metabolic: “Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin A1c 6.7% ( Figure 3C ).”
2026-11-13 00:54 Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin
A source reports “6.7%” in the context of diabetes metabolic: “Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin A1c 6.7% ( Figure 3C ).”
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2026-11-13 00:54 Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1
A source reports “5 cases” in the context of diabetes metabolic: “Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1.5 Mb with variations from...
2026-11-13 00:54 Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1
A source reports “5 cases” in the context of diabetes metabolic: “Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1.5 Mb with variations from...
inzicht toegevoegd
2026-11-13 00:54 At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/
A source reports “17.2%” in the context of diabetes metabolic: “At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/l, HbA1c 17.2%,...
2026-11-13 00:54 At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/
A source reports “17.2%” in the context of diabetes metabolic: “At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/l, HbA1c 17.2%,...
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2026-11-13 00:54 In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%
A source reports “9.9%” in the context of kidney: “In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%).”
2026-11-13 00:54 In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%
A source reports “9.9%” in the context of kidney: “In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%).”
inzicht toegevoegd
2026-11-13 00:54 Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin
A source reports “6.9%” in the context of diabetes metabolic: “Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin (total daily dose ~ 11 U/day) for...
2026-11-13 00:54 Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin
A source reports “6.9%” in the context of diabetes metabolic: “Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin (total daily dose ~ 11 U/day) for...
inzicht toegevoegd
2026-11-13 00:54 However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin
A source reports “5 patients” in the context of diabetes metabolic: “However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin sensitivity.”
2026-11-13 00:54 However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin
A source reports “5 patients” in the context of diabetes metabolic: “However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin sensitivity.”
inzicht toegevoegd
2026-11-13 00:54 Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de
A source reports “45 cases” in the context of kidney: “Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.”
2026-11-13 00:54 Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de
A source reports “45 cases” in the context of kidney: “Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.”
inzicht toegevoegd
2026-11-13 00:54 Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
A source reports “127 families” in the context of kidney: “Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.”
2026-11-13 00:54 Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis
A source reports “127 families” in the context of kidney: “Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.”
inzicht toegevoegd
2026-11-13 00:54 Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of childr
A source reports “10%” in the context of kidney: “Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic...
2026-11-13 00:54 Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of childr
A source reports “10%” in the context of kidney: “Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic...
inzicht toegevoegd
2026-11-13 00:54 Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at m
A source reports “45.2%” in the context of growth nutrition: “Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71)...
2026-11-13 00:54 Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at m
A source reports “45.2%” in the context of growth nutrition: “Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71)...
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2026-11-13 00:54 Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly
A source reports “32.0%” in the context of growth nutrition: “Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a...
2026-11-13 00:54 Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly
A source reports “32.0%” in the context of growth nutrition: “Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a...
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2026-11-13 00:54 Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity
A source reports “43.5%” in the context of growth nutrition: “Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity (43.5%; 90/202 Canadians and...
2026-11-13 00:54 Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity
A source reports “43.5%” in the context of growth nutrition: “Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity (43.5%; 90/202 Canadians and...
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2026-11-13 00:54 Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine (
A source reports “35.9%” in the context of neurodevelopment: “Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine ( n = 34, 33.0%), and pediatrics (...
2026-11-13 00:54 Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine (
A source reports “35.9%” in the context of neurodevelopment: “Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine ( n = 34, 33.0%), and pediatrics (...
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2026-11-13 00:54 The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%;
A source reports “61.2%” in the context of neurodevelopment: “The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%; including transition to adult...
2026-11-13 00:54 The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%;
A source reports “61.2%” in the context of neurodevelopment: “The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%; including transition to adult...
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2026-11-13 00:54 Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates
A source reports “60%” in the context of growth nutrition: “Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates of obesity and MetS in the...
2026-11-13 00:54 Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates
A source reports “60%” in the context of growth nutrition: “Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates of obesity and MetS in the...
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2026-11-13 00:54 Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abd
A source reports “95%” in the context of growth nutrition: “Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abdominal obesity, and MetS, using the...
2026-11-13 00:54 Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abd
A source reports “95%” in the context of growth nutrition: “Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abdominal obesity, and MetS, using the...
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2026-11-13 00:54 Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a
A source reports “38.5%” in the context of growth nutrition: “Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a median age of 30 years).”
2026-11-13 00:54 Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a
A source reports “38.5%” in the context of growth nutrition: “Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a median age of 30 years).”
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2026-11-13 00:54 Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies
A source reports “6%” in the context of hepatic: “Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies ( 13 ).”
2026-11-13 00:54 Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies
A source reports “6%” in the context of hepatic: “Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies ( 13 ).”
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2026-11-13 00:54 HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ]
A source reports “75%” in the context of hepatic: “HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ].”
2026-11-13 00:54 HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ]
A source reports “75%” in the context of hepatic: “HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ].”
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2026-11-13 00:54 In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection (
A source reports “89%” in the context of hepatic: “In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection ( Opisthorchis Viverrini ), which accounts for...
2026-11-13 00:54 In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection (
A source reports “89%” in the context of hepatic: “In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection ( Opisthorchis Viverrini ), which accounts for...
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2026-11-13 00:54 They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96
A source reports “84%” in the context of general: “They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96% and 84%, respectively.”
2026-11-13 00:54 They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96
A source reports “84%” in the context of general: “They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96% and 84%, respectively.”
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2026-11-13 00:54 Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 pati
A source reports “10 patients” in the context of hepatic: “Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 patients with cholangiocarcinoma CCA and...
2026-11-13 00:54 Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 pati
A source reports “10 patients” in the context of hepatic: “Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 patients with cholangiocarcinoma CCA and...
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2026-11-13 00:54 Surveillance discussed in 218 sources
218 independent sources mention surveillance in the context of care, surveillance or counseling.
2026-11-13 00:54 Surveillance discussed in 218 sources
218 independent sources mention surveillance in the context of care, surveillance or counseling.
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2026-11-13 00:54 Counseling discussed in 161 sources
161 independent sources mention counseling in the context of care, surveillance or counseling.
2026-11-13 00:54 Counseling discussed in 161 sources
161 independent sources mention counseling in the context of care, surveillance or counseling.
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2026-11-13 00:54 Research discussed in 106 sources
106 independent sources mention research in the context of care, surveillance or counseling.
2026-11-13 00:54 Research discussed in 106 sources
106 independent sources mention research in the context of care, surveillance or counseling.
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2026-11-13 00:54 Therapy discussed in 91 sources
91 independent sources mention therapy in the context of care, surveillance or counseling.
2026-11-13 00:54 Therapy discussed in 91 sources
91 independent sources mention therapy in the context of care, surveillance or counseling.
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2026-11-13 00:54 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
2026-11-13 00:54 Caution: If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney …
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
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2026-11-13 00:54 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
2026-11-13 00:54 Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the...
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2026-11-13 00:54 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
2026-11-13 00:54 Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine...
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2026-11-13 00:54 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
2026-11-13 00:54 Caution: In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history…
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was...
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2026-11-13 00:54 Trial NCT04021199: COMPLETED
Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) — COMPLETED. Sponsor: Université Catholique de Louvain.
2026-11-13 00:54 Trial NCT04021199: COMPLETED
Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) — COMPLETED. Sponsor: Université Catholique de Louvain.
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2026-11-13 00:54 Trial NCT05586594: UNKNOWN
Identifying Maturity-onset Diabetes of the Young in Emirati Patients — UNKNOWN. Sponsor: United Arab Emirates University.
2026-11-13 00:54 Trial NCT05586594: UNKNOWN
Identifying Maturity-onset Diabetes of the Young in Emirati Patients — UNKNOWN. Sponsor: United Arab Emirates University.
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2026-11-13 00:54 Trial NCT04746053: COMPLETED
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — COMPLETED. Sponsor: University Hospital, Toulouse.
2026-11-13 00:54 Trial NCT04746053: COMPLETED
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — COMPLETED. Sponsor: University Hospital, Toulouse.
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2026-11-13 00:54 Trial NCT04239586: UNKNOWN
Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes — UNKNOWN. Sponsor: Haukeland University Hospital.
2026-11-13 00:54 Trial NCT04239586: UNKNOWN
Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes — UNKNOWN. Sponsor: Haukeland University Hospital.
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2026-11-13 00:54 Trial NCT01238250: RECRUITING
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — RECRUITING. Sponsor: Simons Searchlight.
2026-11-13 00:54 Trial NCT01238250: RECRUITING
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — RECRUITING. Sponsor: Simons Searchlight.
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2026-11-13 00:54 Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has been implicated in neuronal progenitor proliferation and expansion of the frontal cortex.
2026-11-13 00:54 Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans
TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has been implicated in neuronal progenitor proliferation and expansion of the frontal cortex.
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2026-11-13 00:54 Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
2026-11-13 00:54 Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
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2026-11-13 00:54 Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature
Objectives The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.
2026-11-13 00:54 Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature
Objectives The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.
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2026-11-13 00:54 In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.
2026-11-13 00:54 In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.
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2026-11-13 00:54 Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
2026-11-13 00:54 Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
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2026-11-13 00:54 Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
2026-11-13 00:54 Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
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2026-11-13 00:54 Psychosis of Epilepsy: An Update on Clinical Classification and Mechanism
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
2026-11-13 00:54 Psychosis of Epilepsy: An Update on Clinical Classification and Mechanism
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
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2026-11-13 00:54 The genetic etiologies of bilateral renal agenesis
of the genetic etiologies known to be associated with this condition. Methods: A literature search was conducted as a scoping review employing OMIM, PubMed, and Cochrane to identify cases of BRA with known underlying...
2026-11-13 00:54 The genetic etiologies of bilateral renal agenesis
of the genetic etiologies known to be associated with this condition. Methods: A literature search was conducted as a scoping review employing OMIM, PubMed, and Cochrane to identify cases of BRA with known underlying...
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2026-11-13 00:54 Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the...
2026-11-13 00:54 Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the...
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2026-11-13 00:54 HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
2026-11-13 00:54 HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
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2026-11-13 00:54 Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
2026-11-13 00:54 Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
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2026-11-13 00:54 Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
2026-11-13 00:54 Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
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2026-11-13 00:54 Multiple-testing corrections in selection scans using identity-by-descent segments
statistics [ 45 ]. For instance, some methods clarify that summary statistics a few standard deviations above a genome-wide mean do not have p values [ 22 , 31 ], and equally so, no adjustment for multiple testing.
2026-11-13 00:54 Multiple-testing corrections in selection scans using identity-by-descent segments
statistics [ 45 ]. For instance, some methods clarify that summary statistics a few standard deviations above a genome-wide mean do not have p values [ 22 , 31 ], and equally so, no adjustment for multiple testing.
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2026-11-13 00:54 Clinical Analysis of Congenital Duodenal Obstruction and the Role of Annular Pancreas
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
2026-11-13 00:54 Clinical Analysis of Congenital Duodenal Obstruction and the Role of Annular Pancreas
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
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2026-11-13 00:54 Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
2026-11-13 00:54 Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
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2026-11-13 00:54 Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of...
2026-11-13 00:54 Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of...
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2026-11-13 00:54 Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
2026-11-13 00:54 Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
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2026-11-13 00:54 Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies
Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine.
2026-11-13 00:54 Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies
Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine.
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2026-11-13 00:54 Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid...
2026-11-13 00:54 Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid...
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2026-11-13 00:54 Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
2026-11-13 00:54 Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
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2026-11-13 00:54 A retrospective analysis of prenatal genetic results in fetal hydronephrosis
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
2026-11-13 00:54 A retrospective analysis of prenatal genetic results in fetal hydronephrosis
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
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2026-11-13 00:54 Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease DNAH9 causes complex congenital heart disease
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
2026-11-13 00:54 Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease DNAH9 causes complex congenital heart disease
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
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2026-11-13 00:54 Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social...
2026-11-13 00:54 Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social...
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2026-11-13 00:54 Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).
2026-11-13 00:54 Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).