Everything the analysis engine concluded from the corpus: new publications, sources that changed, gene–trait links, reported figures, care recommendations and contradicting evidence. Each card shows how many independent sources support it and links to the exact sentence.
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 MODY-related genes, with more than 600 distinct variants described worldwide [ 32 , 38 ].”
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 reported our experience in the diagnosis and treatment of such conditions.”
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.”
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 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.”
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 novel pathogenic variants identified in a Turkish cohort.”
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.”
A source describes a new or expanded observation: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
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 prevalence of rare MODY subtypes.”
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.”
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.”
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.”
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 ].”
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.”
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 ToppGene Suite can complement these existing approaches by applying novel methods that mine mouse...
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 evolution to cystic changes among unsuspected prenatal cases.”
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 sequentially in Patient 3.”
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 regulatory mechanisms of MIEN1 remain largely unknown.”
A source describes a new or expanded observation: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
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 behavior problems, psychiatric symptoms.”
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 evolve to social phobia in their growth.”
A source describes a new or expanded observation: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
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): a case report and review of the literature.”
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 recessive primary microcephaly, highlighting the value of early sampling combined with...
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 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.”
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 in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at...
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 individuals to glucose intolerance or frank diabetes in later life, often classified as Maturity-Onset...
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 insulin replacement to disease-modifying therapy [ 43 ].”
A source reports “99.9%” in the context of general: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
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 across the entire exome, at both an individual-gene and a gene-set level. "Ultra-rare" variants (URVs) wer”
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 GGE, and 8,425 NAFE) and 29,804 controls.”
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 quality score >200.”
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.”
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 neurological or neuropsychiatric conditions in our URV association analysis, roughly doubling the sample...
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 GGE, and 9,219 with NAFE - as well as for all epilepsy-affected individuals combined (including an...
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.”
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 western populations were 69.4%, 24.7%, 3.5%, 2.4% and 1.4%, respectively [ 6 ].”
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 ].”
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 variants of uncertain clinical significance, one had a pathogenic 15q11.2 deletion, and the remaining 11 h”
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 (5/8, 62.5%).”
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 large translational research framework within the Netherlands that includes a data- and biobank with clinical,”
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 needed to identify genome-wide significant associations in a theoretical but feasible scenario that incl”
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 patients with epilepsy and found no differences [ 65 ].”
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 significantly reduced levels of glutamate in the medial frontal cortex, elevated levels of glutamine in the...
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 channel complex protein, glycine receptors, and glutamic acid decarboxylase [ 145 ].”
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 controls, and the pooled prevalence was estimated to be 5.6% (95%CI: 4.8-6.4%).”
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 probability of psychotic disorders in extra-TLE is about 4.3% [ 7 ].”
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%.”
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 months and 1 year after treatment, two patients deteriorated at 6 months and improved at 1 year, three...
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%).”
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 non-ASMs) between 1981 and 2015.”
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%).”
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 the volumes of the posterior hippocampus were reduced bilaterally in POE patients.”
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 ).”
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 ), ranking RET among the most frequent genes reported in BRA.”
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 male:female ratio of 1:1 ( 9 ).”
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 published in 2022 of 100 fetuses with severe renal defects was examined by targeted next-generation sequencin”
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 syndrome affecting other organ systems.”
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 (2.0%, 1/51).”
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 .”
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 .”
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 infections, respectively, raising the possible immune dysregulation.”
A source reports “52%” in the context of general: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
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%).”
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 : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.”
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 ].”
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 complications [ 8 ].”
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: CDO with annular pancreas (13 cases) and CDO without annular pancreas (17 cases).”
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 difference between the groups.”
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 ( Figure 2 ) [ 12 ].”
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.”
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.”
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.”
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.”
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 not-T1D were confirmed to have T1D.”
A source reports “82%” in the context of diabetes metabolic: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
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 T2D, one individual with SIH, and one individual with diabetes in association with mitochondrial...
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 ).”
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 case to case encompassing 15 genes on average [ 4 , 5 ], including HNF1B [ 6 ], which explains the...
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%, 3-hydroxybutyrate 6912 μmol/l).”
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%).”
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 a long time.”
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.”
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.”
A source reports “127 families” in the context of kidney: “Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.”
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) years) and compared these rates with population-based data.”
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 population-based cohort (15.7% ( P < 0.0001), 36.1% ( P = 0.002), and 15.2% ( P < 0.0001), respectively).”
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 38.5%; 20/52 Belgian, respectively), based on body mass index (BMI) [ 7 , 8 ], the most widely used and a quic”
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 ( n = 16, 15.5%).”
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 care), and psychiatric symptoms and/or psychosocial problems ( n = 23, 22.3%).”
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 22q11.2DS cohort with those in the general population, we used published data from Lifelines, a large Dutch popu”
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).”
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 approximately 89% of all liver cancers in this region [ 5 ].”
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.”
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.”
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 proportion of inherited versus de novo pathogenic variants ( p = 0.198).”
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 additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”
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 more suggestive of an HNF1B -related disorder.”
Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) — COMPLETED. Sponsor: Université Catholique de Louvain.
Identifying Maturity-onset Diabetes of the Young in Emirati Patients — UNKNOWN. Sponsor: United Arab Emirates University.
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — COMPLETED. Sponsor: University Hospital, Toulouse.
Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes — UNKNOWN. Sponsor: Haukeland University Hospital.
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — RECRUITING. Sponsor: Simons Searchlight.
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.
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
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.
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.
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
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 genetic (chromosomal versus single gene) etiologies and those described in syndromes without any...
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 genotype-phenotype characteristics associated with SMARCC2 variants.
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
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.
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
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 chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which...
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
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.
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 diagnosis and a specific treatment.
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
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 interactions and communication.
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).