Data warehouse
Every original capture, kept forever. Each document stores its raw payload (gzip, content-addressed) plus one row per visit, so you can see exactly what a page said on a given date and what changed between visits.
582 matching
1161 versions stored
78.8 MB compressed
| Story | Source | Type | Published | Words | Rel. | Ver. | Last seen |
|---|---|---|---|---|---|---|---|
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A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5.
PMID 41018173 · DOI 10.1210/jcemcr/luaf219 · https://pubmed.ncbi.nlm.nih.gov/41018173/
diabetes and metabolismTherapyResearchgrowth, gut and nutritionHNF1B
|
pubmed peer_reviewed |
case_report | 2025-11-01 | 21.6k | 1.00 | 3 | today |
|
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retros...
PMID 43021122 · DOI 10.1186/s12882-023-03180-8 · https://pubmed.ncbi.nlm.nih.gov/43021122/
kidney and urinary tractHNF1Bdiabetes and metabolismgrowth, gut and nutritionSurveillance
|
pubmed peer_reviewed |
case_report | 2026-08-17 | 9.0k | 1.00 | 2 | today |
|
Clinical and research tests for 6928 - Genetic Testing Registry (GTR) - NCBI
https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=6928[geneid]
diabetes and metabolismkidney and urinary tractCounselingSurveillanceHNF1B
|
institutional institutional |
article | - | 2.1k | 0.45 | 1 | today |
|
Congenital anomalies of kidney and urinary tract: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/congenital...
kidney and urinary tractHNF1BPAX2diabetes and metabolismeyes, ears and hearing
|
web reference |
article | - | 1.2k | 1.00 | 1 | today |
|
Renal cysts and diabetes syndrome
https://en.wikipedia.org/wiki/Renal_cysts_and_diabete...
kidney and urinary tractdiabetes and metabolismHNF1Bgenital and Müllerian developmentliver and gallbladder
|
wikipedia reference |
reference | - | 547 | 1.00 | 1 | today |
|
Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
PMID 42100715 · DOI 10.1093/ckj/sfag121 · https://pmc.ncbi.nlm.nih.gov/articles/PMC13147456/
kidney and urinary tractSurveillanceCounselinglearning, speech and behavioureyes, ears and hearing
|
pmc peer_reviewed |
article | 2026-01-01 | 16.4k | 1.00 | 3 | today |
|
LHX1
https://en.wikipedia.org/wiki/LHX1
genital and Müllerian developmentkidney and urinary tracttumour riskLHX1growth, gut and nutrition
|
wikipedia reference |
reference | - | 2.5k | 0.85 | 1 | today |
|
A Simple Bioreactor-Based Method to Generate Kidney Organoids from Pluripotent Stem Cells.
PMID 30033089 · DOI 10.1016/j.stemcr.2018.06.018 · https://pubmed.ncbi.nlm.nih.gov/30033089/
kidney and urinary tractliver and gallbladderdiabetes and metabolismTherapyPAX2
|
pubmed peer_reviewed |
case_report | 2018-08-14 | 14.8k | 0.74 | 3 | today |
|
17q12 Recurrent Deletion Syndrome in Childhood
PMID 41465172 · DOI 10.3390/genes16121499 · https://pmc.ncbi.nlm.nih.gov/articles/PMC12733229/
kidney and urinary tractlearning, speech and behaviourSurveillanceCounselingdiabetes and metabolism
|
pmc peer_reviewed |
article | 2025-01-01 | 21.5k | 1.00 | 3 | today |
|
Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and liter...
PMID 41467049 · DOI 10.1177/2050313X251408697 · https://pmc.ncbi.nlm.nih.gov/articles/PMC12743790/
kidney and urinary tractdiabetes and metabolismliver and gallbladderSurveillanceHNF1B
|
pmc peer_reviewed |
case_report | 2025-01-01 | 8.1k | 1.00 | 3 | today |
|
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
PMID 41479269 · DOI 10.1002/jcla.70160 · https://pmc.ncbi.nlm.nih.gov/articles/PMC12888757/
Surveillancelearning, speech and behaviourCounselinggrowth, gut and nutritionkidney and urinary tract
|
pmc peer_reviewed |
article | 2026-01-01 | 8.5k | 1.00 | 3 | today |
|
Genetics of CAKUT
PMID 41710414 · DOI 10.1515/medgen-2025-2053 · https://pmc.ncbi.nlm.nih.gov/articles/PMC12910339/
kidney and urinary tractlearning, speech and behaviourResearchdiabetes and metabolismHNF1B
|
pmc peer_reviewed |
guideline | 2026-01-01 | 10.4k | 1.00 | 3 | today |
|
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and p...
PMID 42016181 · DOI 10.1007/s00467-016-3421-6 · https://pubmed.ncbi.nlm.nih.gov/42016181/
kidney and urinary tractliver and gallbladderdiabetes and metabolismgenital and Müllerian developmentHNF1B
|
pubmed peer_reviewed |
case_report | 2026-05-01 | 4.3k | 1.00 | 3 | today |
|
17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
PMID 42063794 · DOI 10.12659/AJCR.928994 · https://pubmed.ncbi.nlm.nih.gov/42063794/
diabetes and metabolismgenital and Müllerian developmentHNF1Bkidney and urinary tract
|
pubmed peer_reviewed |
case_report | 2026-01-01 | 9.4k | 1.00 | 3 | today |
|
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an e...
PMID 42181563 · DOI 10.1038/s41598-020-65904-2 · https://pubmed.ncbi.nlm.nih.gov/42181563/
CounselingSurveillance
|
pubmed peer_reviewed |
article | 2026-01-01 | 6.5k | 1.00 | 3 | today |
|
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
PMID 42205255 · DOI 10.1016/j.kint.2016.03.027 · https://pubmed.ncbi.nlm.nih.gov/42205255/
diabetes and metabolismlearning, speech and behaviourHNF1B
|
pubmed peer_reviewed |
case_report | 2026-01-01 | 14.0k | 1.00 | 3 | today |
|
HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical...
PMID 42441133 · DOI 10.1016/j.stemcr.2018.06.018 · https://pubmed.ncbi.nlm.nih.gov/42441133/
HNF1Bkidney and urinary tractdiabetes and metabolismlearning, speech and behaviourResearch
|
pubmed peer_reviewed |
article | 2026-07-01 | 23.1k | 1.00 | 3 | today |
|
17q12 deletion syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/17q12-dele...
learning, speech and behaviourkidney and urinary tractdiabetes and metabolismHNF1BLHX1
|
web reference |
article | - | 1.2k | 1.00 | 1 | today |
|
Maturity-onset diabetes of the young: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/maturity-o...
diabetes and metabolismkidney and urinary tractResearchHNF1AGCK
|
web reference |
article | - | 1.6k | 1.00 | 1 | today |
|
FAQs – 17q12 Patient Registry
https://17q12registry.iamrare.org/faq/
ResearchNORD
|
patient_org community |
case_report | - | 2.0k | 1.00 | 1 | today |
|
Contact – 17q12 Patient Registry
https://17q12registry.iamrare.org/contact/
Research
|
patient_org community |
community | - | 153 | 1.00 | 1 | today |
|
News – 17q12 Patient Registry
https://17q12registry.iamrare.org/news/
Researchkidney and urinary tractdiabetes and metabolism
|
patient_org community |
community | - | 146 | 1.00 | 1 | today |
|
How To Register – 17q12 Patient Registry
https://17q12registry.iamrare.org/about/how-to-register/
Research
|
patient_org community |
community | - | 14 | 1.00 | 1 | today |
|
For Reseachers – 17q12 Patient Registry
https://17q12registry.iamrare.org/about/for-reseachers/
Research
|
patient_org community |
community | - | 128 | 1.00 | 1 | today |
|
17q12 Patient Registry
https://17q12registry.iamrare.org/
Research
|
patient_org community |
community | - | 102 | 1.00 | 1 | today |
|
17q12 Patient Registry
https://17q12registry.iamrare.org
Research
|
patient_org community |
community | - | 102 | 1.00 | 1 | today |
|
Patient Organizations - National Organization for Rare Disorders
https://rarediseases.org/get-involved/patient-organizations/
NORDtumour riskgenital and Müllerian developmentResearchthe heart
|
patient_org community |
community | - | 1.1k | 1.00 | 1 | today |
|
Patient Organizations - National Organization for Rare Disorders
https://rarediseases.org/patient-organizations/
NORDtumour riskgenital and Müllerian developmentResearchthe heart
|
patient_org community |
community | - | 1.1k | 1.00 | 1 | today |
|
17q12 microdeletions (rarechromo.org patient leaflet)
https://rarechromo.org/media/information/Chromosome%2...
kidney and urinary tractlearning, speech and behaviourUniquegenital and Müllerian developmentdiabetes and metabolism
|
patient_org community |
community | - | 6.5k | 1.00 | 1 | today |
|
17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
https://www.rareportal.org.au/rare-disease/17q12-micr...
learning, speech and behaviourdiabetes and metabolismgenital and Müllerian developmentkidney and urinary tractHNF1B
|
web curated |
guideline | 2025-08-01 | 2.1k | 1.00 | 1 | today |
|
HNF1B gene: MedlinePlus Genetics
https://medlineplus.gov/genetics/gene/hnf1b/
kidney and urinary tractdiabetes and metabolismHNF1Blearning, speech and behaviourliver and gallbladder
|
web reference |
article | - | 1.6k | 1.00 | 1 | today |
|
For Patients – 17q12 Patient Registry
https://17q12registry.iamrare.org/about/for-patients/
ResearchNORD
|
patient_org community |
guideline | - | 394 | 1.00 | 1 | today |
|
17q12 Foundation - National Organization for Rare Disorders
https://rarediseases.org/organizations/17q12-foundation/
NORD
|
patient_org community |
community | 2023-10-31 | 126 | 1.00 | 1 | today |
|
chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
https://rarediseases.org/mondo-disease/chromosome-17q...
NORDlearning, speech and behaviourOrphanetGeneReviewsMedlinePlus
|
patient_org community |
community | 2025-05-01 | 596 | 1.00 | 1 | today |
|
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retros...
DOI 10.1186/s12887-026-07534-7 · https://pmc.ncbi.nlm.nih.gov/articles/PMC13757192/
kidney and urinary tractdiabetes and metabolismHNF1BSurveillancegrowth, gut and nutrition
|
pmc peer_reviewed |
article | 2026-01-01 | 7.9k | 1.00 | 1 | yesterday |
|
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micr...
DOI 10.3390/genes17101190 · https://doi.org/10.3390/genes17101190
tumour risk
|
openalex peer_reviewed |
article | 2026-09-25 | 261 | 0.87 | 1 | yesterday |
|
Persistent tic disorders are associated with 17q12 duplications
DOI 10.1038/s41380-026-03849-0 · https://doi.org/10.1038/s41380-026-03849-0
ACACA
|
openalex peer_reviewed |
review | 2026-09-16 | 255 | 1.00 | 1 | yesterday |
|
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis me...
DOI 10.33448/rsd-v15i11.51974 · https://doi.org/10.33448/rsd-v15i11.51974
kidney and urinary tractResearch
|
openalex peer_reviewed |
article | 2026-11-03 | 247 | 0.87 | 1 | yesterday |
|
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report
DOI 10.59324/ejmhr.2026.4(5).40 · https://doi.org/10.59324/ejmhr.2026.4(5).40
kidney and urinary tractHNF1BSurveillancediabetes and metabolismCounseling
|
openalex peer_reviewed |
case_report | 2026-10-12 | 280 | 1.00 | 1 | yesterday |
|
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangement Underlying a Severe Ne...
DOI 10.21203/rs.3.rs-11055592/v1 · https://doi.org/10.21203/rs.3.rs-11055592/v1
DDX52DUSP14HNF1BSYNRGCounseling
|
openalex peer_reviewed |
abstract | 2026-10-09 | 218 | 1.00 | 1 | yesterday |
|
Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learnin...
DOI 10.3390/ijms27208966 · https://doi.org/10.3390/ijms27208966
HNF1Bdiabetes and metabolismkidney and urinary tract
|
openalex peer_reviewed |
article | 2026-10-09 | 383 | 1.00 | 1 | yesterday |
|
From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPK...
DOI 10.3390/diagnostics16172770 · https://doi.org/10.3390/diagnostics16172770
HNF1BUMODRENSEC61A1kidney and urinary tract
|
openalex peer_reviewed |
guideline | 2026-08-28 | 220 | 0.76 | 1 | yesterday |
|
Population-Scale, Genotype-First Characterization of Monogenic Diabetes in 374,973 Multi-Ance...
DOI 10.64898/2026.06.12.26355541 · https://doi.org/10.64898/2026.06.12.26355541
diabetes and metabolismGCKHNF1BHNF1AINS
|
openalex peer_reviewed |
abstract | 2026-06-22 | 288 | 0.56 | 1 | yesterday |
|
Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic...
DOI 10.1007/s13300-026-01884-2 · https://doi.org/10.1007/s13300-026-01884-2
diabetes and metabolismTherapyHNF1BHNF1AGCK
|
openalex peer_reviewed |
case_report | 2026-06-15 | 322 | 0.56 | 1 | yesterday |
|
Clinical impact of genetic testing in inherited kidney diseases
DOI 10.1093/ckj/sfag160 · https://doi.org/10.1093/ckj/sfag160
kidney and urinary tractHNF1BCOL4A4Surveillance
|
openalex peer_reviewed |
abstract | 2026-05-19 | 312 | 1.00 | 1 | yesterday |
|
Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect ...
DOI 10.20452/pamw.17296 · https://doi.org/10.20452/pamw.17296
kidney and urinary tract
|
openalex peer_reviewed |
article | 2026-05-08 | 31 | 1.00 | 1 | yesterday |
|
Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1...
DOI 10.6084/m9.figshare.32031631 · https://doi.org/10.6084/m9.figshare.32031631
HNF1Bdiabetes and metabolismHNF1AGCKHNF4A
|
openalex peer_reviewed |
case_report | 2026-04-16 | 165 | 1.00 | 1 | yesterday |
|
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – t...
DOI 10.6084/m9.figshare.c.8423629 · https://doi.org/10.6084/m9.figshare.c.8423629
diabetes and metabolismHNF1Bkidney and urinary tractSurveillanceTherapy
|
openalex peer_reviewed |
case_report | 2026-04-16 | 258 | 1.00 | 1 | yesterday |
|
Functional validation of a non-canonical HNF1B splice-site variant in MODY5
DOI 10.3389/fendo.2026.1777094 · https://doi.org/10.3389/fendo.2026.1777094
diabetes and metabolismHNF1Bkidney and urinary tractliver and gallbladderSurveillance
|
openalex peer_reviewed |
article | 2026-04-10 | 242 | 1.00 | 1 | yesterday |
|
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and p...
DOI 10.1016/j.xagr.2026.100635 · https://doi.org/10.1016/j.xagr.2026.100635
kidney and urinary tractliver and gallbladderdiabetes and metabolismgenital and Müllerian developmentHNF1B
|
openalex peer_reviewed |
case_report | 2026-03-26 | 269 | 1.00 | 1 | yesterday |
|
Identification of maturity-onset diabetes of the young through targeted next-generation seque...
DOI 10.3389/fendo.2026.1717121 · https://doi.org/10.3389/fendo.2026.1717121
diabetes and metabolismTherapyHNF1BHNF1AGCK
|
openalex peer_reviewed |
article | 2026-01-29 | 329 | 0.74 | 1 | yesterday |
|
Genomic Characterization of Pathogenic CNVs in a Familial Developmental Dyslexia Comorbid ADH...
DOI 10.21203/rs.3.rs-8483680/v1 · https://doi.org/10.21203/rs.3.rs-8483680/v1
learning, speech and behaviourSurveillance
|
openalex peer_reviewed |
abstract | 2026-01-06 | 239 | 1.00 | 1 | yesterday |
|
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis ...
DOI 10.1016/j.gimo.2026.104278 · https://doi.org/10.1016/j.gimo.2026.104278
liver and gallbladderHNF1Bkidney and urinary tract
|
openalex peer_reviewed |
article | 2026-01-01 | 62 | 1.00 | 1 | yesterday |
|
The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation W...
DOI 10.1002/ajmg.c.70035 · https://doi.org/10.1002/ajmg.c.70035
Counselinggenital and Müllerian developmentSurveillance
|
openalex peer_reviewed |
article | 2026-11-02 | 215 | 1.00 | 1 | yesterday |
|
Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom
DOI 10.65868/vbwe4409 · https://doi.org/10.65868/vbwe4409
learning, speech and behaviour
|
openalex peer_reviewed |
article | 2026-10-20 | 152 | 1.00 | 1 | yesterday |
|
Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differe...
DOI 10.5005/jp-journals-11002-0169 · https://doi.org/10.5005/jp-journals-11002-0169
kidney and urinary tractHNF1BCounselingSurveillanceResearch
|
openalex peer_reviewed |
article | 2026-10-20 | 282 | 1.00 | 1 | yesterday |
|
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis
DOI 10.3390/jcm15197537 · https://doi.org/10.3390/jcm15197537
kidney and urinary tractHNF1Bdiabetes and metabolismSurveillance
|
openalex peer_reviewed |
case_report | 2026-09-28 | 191 | 1.00 | 1 | yesterday |
|
Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center R...
DOI 10.21203/rs.3.rs-10718743/v1 · https://doi.org/10.21203/rs.3.rs-10718743/v1
kidney and urinary tractCounselingHNF1BSurveillance
|
openalex peer_reviewed |
abstract | 2026-09-25 | 297 | 1.00 | 1 | yesterday |
|
Prenatal Ultrasound Spectrum of Fetuses with Chromosomal Copy Number Variations and Their Pre...
DOI 10.21203/rs.3.rs-11077474/v1 · https://doi.org/10.21203/rs.3.rs-11077474/v1
CounselingSurveillancekidney and urinary tractthe heart
|
openalex peer_reviewed |
abstract | 2026-09-21 | 262 | 1.00 | 1 | yesterday |
|
Thyroxine binding globulin deficiency due to a novel HNF1B gene variant in a young girl with ...
DOI 10.1210/jcemcr/luag295 · https://doi.org/10.1210/jcemcr/luag295
HNF1Bkidney and urinary tractdiabetes and metabolismSurveillance
|
openalex peer_reviewed |
case_report | 2026-09-03 | 205 | 1.00 | 1 | yesterday |
|
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1...
DOI 10.3390/jcm15176590 · https://doi.org/10.3390/jcm15176590
kidney and urinary tractHNF1BSurveillanceResearch
|
openalex peer_reviewed |
article | 2026-08-26 | 275 | 1.00 | 1 | yesterday |
|
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retros...
DOI 10.1186/s12887-026-07534-7 · https://doi.org/10.1186/s12887-026-07534-7
kidney and urinary tractHNF1Bdiabetes and metabolismgrowth, gut and nutritionSurveillance
|
openalex peer_reviewed |
article | 2026-08-17 | 277 | 1.00 | 1 | yesterday |
|
Copy number variant association analysis in 94,730 Chinese adults reveals loci influencing an...
DOI 10.64898/2026.08.12.26359684 · https://doi.org/10.64898/2026.08.12.26359684
Research
|
openalex peer_reviewed |
abstract | 2026-08-13 | 224 | 1.00 | 1 | yesterday |
|
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features–two case reports
DOI 10.3389/fendo.2026.1841040 · https://doi.org/10.3389/fendo.2026.1841040
diabetes and metabolismkidney and urinary tractHNF1Bliver and gallbladderTherapy
|
openalex peer_reviewed |
case_report | 2026-06-11 | 235 | 1.00 | 1 | yesterday |
|
HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical...
DOI 10.1093/ckj/sfag185 · https://doi.org/10.1093/ckj/sfag185
HNF1Bdiabetes and metabolismkidney and urinary tractlearning, speech and behaviourResearch
|
openalex peer_reviewed |
abstract | 2026-06-03 | 229 | 1.00 | 1 | yesterday |
|
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clin...
DOI 10.3390/ijms27115067 · https://doi.org/10.3390/ijms27115067
diabetes and metabolismResearchHNF1Bkidney and urinary tractSurveillance
|
openalex peer_reviewed |
article | 2026-06-03 | 237 | 1.00 | 1 | yesterday |
|
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubbl...
DOI 10.4103/jmu.jmu-d-25-00119 · https://doi.org/10.4103/jmu.jmu-d-25-00119
CounselingSurveillancelearning, speech and behaviourthe heartdiabetes and metabolism
|
openalex peer_reviewed |
guideline | 2026-05-30 | 723 | 1.00 | 1 | yesterday |
|
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
DOI 10.3389/fendo.2026.1819047 · https://doi.org/10.3389/fendo.2026.1819047
diabetes and metabolismlearning, speech and behaviourHNF1B
|
openalex peer_reviewed |
case_report | 2026-05-12 | 139 | 1.00 | 1 | yesterday |
|
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an e...
DOI 10.3389/fped.2026.1798935 · https://doi.org/10.3389/fped.2026.1798935
CounselingSurveillance
|
openalex peer_reviewed |
article | 2026-05-08 | 219 | 1.00 | 1 | yesterday |
|
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report an...
DOI 10.3389/fendo.2026.1814139 · https://doi.org/10.3389/fendo.2026.1814139
HNF1Bdiabetes and metabolismkidney and urinary tractHNF1A
|
openalex peer_reviewed |
case_report | 2026-05-04 | 189 | 1.00 | 1 | yesterday |
|
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease – t...
DOI 10.1186/s40348-026-00234-3 · https://doi.org/10.1186/s40348-026-00234-3
diabetes and metabolismHNF1Bkidney and urinary tractSurveillanceTherapy
|
openalex peer_reviewed |
case_report | 2026-04-16 | 257 | 1.00 | 1 | yesterday |
|
17q12 deletion syndrome presenting with chronic pancreatitis: a case report
DOI 10.3389/fmed.2026.1775502 · https://doi.org/10.3389/fmed.2026.1775502
diabetes and metabolismgenital and Müllerian developmentHNF1Bkidney and urinary tract
|
openalex peer_reviewed |
case_report | 2026-04-15 | 142 | 1.00 | 1 | yesterday |
|
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report
DOI 10.12659/ajcr.951250 · https://doi.org/10.12659/ajcr.951250
kidney and urinary tractCounselingdiabetes and metabolismHNF1BSurveillance
|
openalex peer_reviewed |
case_report | 2026-03-12 | 227 | 1.00 | 1 | yesterday |
|
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study
DOI 10.2215/cjn.0000001027 · https://doi.org/10.2215/cjn.0000001027
kidney and urinary tractCounselingSurveillanceHNF1B
|
openalex peer_reviewed |
article | 2026-03-06 | 391 | 1.00 | 1 | yesterday |
|
Retraction notice to “Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 m...
DOI 10.1016/j.ejogrb.2026.115027 · https://doi.org/10.1016/j.ejogrb.2026.115027
Counseling
|
openalex peer_reviewed |
article | 2026-03-05 | 30 | 1.00 | 1 | yesterday |
|
The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney...
DOI 10.3390/ijms27052362 · https://doi.org/10.3390/ijms27052362
kidney and urinary tractHNF1BCOL4A3Counseling
|
openalex peer_reviewed |
article | 2026-03-03 | 237 | 1.00 | 1 | yesterday |
|
A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome
DOI 10.1186/s12920-026-02325-6 · https://doi.org/10.1186/s12920-026-02325-6
kidney and urinary tractHNF1Bdiabetes and metabolismCounseling
|
openalex peer_reviewed |
article | 2026-02-17 | 158 | 1.00 | 1 | yesterday |
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Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerationa...
DOI 10.3389/fmed.2025.1671893 · https://doi.org/10.3389/fmed.2025.1671893
kidney and urinary tractdiabetes and metabolismHNF1Bliver and gallbladderSurveillance
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openalex peer_reviewed |
case_report | 2026-01-30 | 214 | 1.00 | 1 | yesterday |
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Hepatic dysfunction, hyperuricemia, and multiple renal cysts in adolescence: A case report wi...
DOI 10.5414/cncs111652 · https://doi.org/10.5414/cncs111652
kidney and urinary tractHNF1Bliver and gallbladderAATFDDX52
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openalex peer_reviewed |
case_report | 2026-01-01 | 256 | 1.00 | 1 | yesterday |
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Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with...
DOI 10.24953/turkjpediatr.2025.6246 · https://doi.org/10.24953/turkjpediatr.2025.6246
kidney and urinary tractHNF1Bliver and gallbladderskeleton and limbsSurveillance
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openalex peer_reviewed |
case_report | 2025-12-23 | 270 | 1.00 | 1 | yesterday |
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From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children
DOI 10.1186/s12882-025-04616-z · https://doi.org/10.1186/s12882-025-04616-z
kidney and urinary tractHNF1Bdiabetes and metabolismSurveillanceCounseling
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openalex peer_reviewed |
article | 2025-12-23 | 244 | 1.00 | 1 | yesterday |
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Possibilities of early diagnostics of chromosome 17q12 deletion syndrome in newborns with cys...
DOI 10.21886/2219-8075-2025-16-4-68-73 · https://doi.org/10.21886/2219-8075-2025-16-4-68-73
kidney and urinary tractSurveillancegrowth, gut and nutrition
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openalex peer_reviewed |
article | 2025-12-21 | 199 | 1.00 | 1 | yesterday |
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17q12 Recurrent Deletion Syndrome in Childhood
DOI 10.3390/genes16121499 · https://doi.org/10.3390/genes16121499
kidney and urinary tractHNF1Blearning, speech and behaviourSurveillance
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openalex peer_reviewed |
article | 2025-12-15 | 170 | 1.00 | 1 | yesterday |
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Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A ...
DOI 10.1111/aogs.70117 · https://doi.org/10.1111/aogs.70117
Counseling
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openalex peer_reviewed |
article | 2025-12-15 | 377 | 1.00 | 1 | yesterday |
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A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations...
DOI 10.5385/nm.2025.32.2.90 · https://doi.org/10.5385/nm.2025.32.2.90
HNF1Bkidney and urinary tractliver and gallbladderdiabetes and metabolismSurveillance
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openalex peer_reviewed |
case_report | 2025-11-30 | 191 | 1.00 | 1 | yesterday |
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Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic p...
DOI 10.1007/s10565-025-10097-5 · https://doi.org/10.1007/s10565-025-10097-5
kidney and urinary tractliver and gallbladderSurveillanceTherapyResearch
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openalex peer_reviewed |
abstract | 2025-11-26 | 289 | 0.49 | 1 | yesterday |
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HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report
DOI 10.1002/ccr3.71307 · https://doi.org/10.1002/ccr3.71307
kidney and urinary tractdiabetes and metabolism
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openalex peer_reviewed |
case_report | 2025-10-01 | 63 | 0.65 | 1 | yesterday |
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A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5
DOI 10.1210/jcemcr/luaf219 · https://doi.org/10.1210/jcemcr/luaf219
diabetes and metabolismHNF1Bkidney and urinary tractTherapy
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openalex peer_reviewed |
case_report | 2025-09-25 | 215 | 1.00 | 1 | yesterday |
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Precision treatment of beta-cell monogenic diabetes: a systematic review
PMID 39025920 · DOI 10.1038/s43856-024-00556-1 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11258280/
diabetes and metabolismTherapyHNF1AGCKHNF1B
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pmc peer_reviewed |
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Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
PMID 38850022 · DOI 10.1016/j.xhgg.2024.100316 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11264174/
learning, speech and behaviourthe heartResearchDGVDECIPHER
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pmc peer_reviewed |
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A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied
PMID 39050772 · DOI 10.2147/TACG.S465859 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11268705/
diabetes and metabolismkidney and urinary tractliver and gallbladderTherapylearning, speech and behaviour
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pmc peer_reviewed |
case_report | 2024-01-01 | 6.9k | 1.00 | 1 | yesterday |
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Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
PMID 39080034 · DOI 10.1007/s11033-024-09821-x · https://pmc.ncbi.nlm.nih.gov/articles/PMC11289215/
learning, speech and behaviourSurveillanceCounselingHNF1BLHX1
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pmc peer_reviewed |
article | 2024-01-01 | 6.4k | 1.00 | 1 | yesterday |
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A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
PMID 39114399 · DOI 10.4103/ijn.ijn_108_23 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11302511/
kidney and urinary tractdiabetes and metabolismSurveillanceHNF1Bgrowth, gut and nutrition
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pmc peer_reviewed |
case_report | 2024-01-01 | 2.5k | 1.00 | 1 | yesterday |
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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
PMID 39156164 · DOI 10.1016/j.ekir.2024.05.007 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11328578/
kidney and urinary tractHNF1BSurveillancediabetes and metabolismCounseling
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pmc peer_reviewed |
article | 2024-01-01 | 14.2k | 1.00 | 1 | yesterday |
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MRI in the prenatal genetic diagnosis and intrauterine treatment of fetal congenital cystic a...
PMID 39198908 · DOI 10.1186/s13019-024-02868-8 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11351084/
SurveillanceCounselingTherapygenital and Müllerian developmentthe heart
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pmc peer_reviewed |
article | 2024-01-01 | 14.6k | 0.45 | 1 | yesterday |
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HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 ...
PMID 39221224 · DOI 10.3389/fgene.2024.1391804 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11361975/
kidney and urinary tractdiabetes and metabolismLHX1genital and Müllerian developmentHNF1B
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pmc peer_reviewed |
case_report | 2024-01-01 | 6.4k | 1.00 | 1 | yesterday |
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Impact and characterization of serial structural variations across humans and great apes
PMID 39266513 · DOI 10.1038/s41467-024-52027-9 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11393467/
Surveillancelearning, speech and behaviourliver and gallbladdertumour riskResearch
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pmc peer_reviewed |
article | 2024-01-01 | 34.6k | 0.45 | 1 | yesterday |
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Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analys...
PMID 39286125 · DOI 10.1016/j.heliyon.2024.e36558 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11402952/
SurveillanceCounselingkidney and urinary tractthe heartlearning, speech and behaviour
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pmc peer_reviewed |
article | 2024-01-01 | 9.2k | 1.00 | 1 | yesterday |
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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
PMID 39311780 · DOI 10.11817/j.issn.1672-7347.2024.230594 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11420971/
diabetes and metabolismTherapyGCKkidney and urinary tractgenital and Müllerian development
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pmc peer_reviewed |
article | 2024-01-01 | 997 | 1.00 | 1 | yesterday |
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A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused b...
PMID 39337310 · DOI 10.3390/ijms25189823 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11432569/
diabetes and metabolismkidney and urinary tractHNF1Bliver and gallbladderTherapy
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pmc peer_reviewed |
case_report | 2024-01-01 | 13.8k | 1.00 | 1 | yesterday |
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The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients...
PMID 39337901 · DOI 10.3390/life14091118 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11433392/
the heartgenital and Müllerian developmentCounselinglearning, speech and behaviourSurveillance
|
pmc peer_reviewed |
guideline | 2024-01-01 | 10.0k | 0.45 | 1 | yesterday |
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Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Man...
PMID 39408828 · DOI 10.3390/ijms251910501 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11476815/
diabetes and metabolismTherapykidney and urinary tractGCKHNF1A
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pmc peer_reviewed |
article | 2024-01-01 | 25.3k | 0.45 | 1 | yesterday |
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HNF1B Transcription Factor: Key Regulator in Renal Physiology and Pathogenesis
PMID 39408938 · DOI 10.3390/ijms251910609 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11476927/
kidney and urinary tractHNF1Bdiabetes and metabolismlearning, speech and behaviourUMOD
|
pmc peer_reviewed |
article | 2024-01-01 | 23.3k | 1.00 | 1 | yesterday |
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Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis ...
PMID 39568677 · DOI 10.3389/fgene.2024.1347942 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11576268/
SurveillanceCounselingkidney and urinary tractlearning, speech and behaviourthe heart
|
pmc peer_reviewed |
article | 2024-01-01 | 12.8k | 0.45 | 1 | yesterday |
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A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome
PMID 36511482 · DOI 10.4274/jcrpe.galenos.2022.2022-3-2 · https://pmc.ncbi.nlm.nih.gov/articles/PMC11590729/
diabetes and metabolismHNF1Bkidney and urinary tractlearning, speech and behaviourliver and gallbladder
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pmc peer_reviewed |
article | 2024-01-01 | 7.5k | 1.00 | 1 | yesterday |
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Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta.
PMID 11934849 · DOI 10.1242/dev.129.8.1829 · https://pubmed.ncbi.nlm.nih.gov/11934849/
liver and gallbladder
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pubmed peer_reviewed |
article | 2002-04-01 | 146 | 0.48 | 1 | yesterday |
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Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabet...
PMID 17828387 · DOI 10.1007/s00125-007-0798-6 · https://pubmed.ncbi.nlm.nih.gov/17828387/
HNF1AGCKdiabetes and metabolismkidney and urinary tractHNF1B
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pubmed peer_reviewed |
article | 2007-11-01 | 247 | 1.00 | 1 | yesterday |
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Function of HNF1 in the pathogenesis of diabetes.
PMID 30754209 · DOI 10.1586/17446651.3.3.391 · https://pubmed.ncbi.nlm.nih.gov/30754209/
diabetes and metabolismHNF1BHNF1Akidney and urinary tractTherapy
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pubmed peer_reviewed |
article | 2008-05-01 | 159 | 0.96 | 1 | yesterday |
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Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12.
PMID 18758462 · DOI 10.1038/ng.214 · https://pubmed.ncbi.nlm.nih.gov/18758462/
HNF1Btumour risk
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pubmed peer_reviewed |
article | 2008-10-01 | 103 | 1.00 | 1 | yesterday |
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Hepatocyte nuclear factor 1 binding element within the promoter of microsomal triglyceride tr...
PMID 18697801 · DOI 10.1677/JME-08-0080 · https://pubmed.ncbi.nlm.nih.gov/18697801/
diabetes and metabolismHNF1ATherapyHNF1B
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pubmed peer_reviewed |
article | 2008-10-01 | 201 | 0.56 | 1 | yesterday |
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HNF1B-related diabetes triggered by renal transplantation.
PMID 19639018 · DOI 10.1038/nrneph.2009.98 · https://pubmed.ncbi.nlm.nih.gov/19639018/
diabetes and metabolismkidney and urinary tractHNF1Bliver and gallbladderSurveillance
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pubmed peer_reviewed |
article | 2009-08-01 | 151 | 0.98 | 1 | yesterday |
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Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.
PMID 19417042 · DOI 10.1210/jc.2008-2189 · https://pubmed.ncbi.nlm.nih.gov/19417042/
diabetes and metabolismHNF1Bliver and gallbladderHNF1AGCK
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pubmed peer_reviewed |
article | 2009-07-01 | 281 | 1.00 | 1 | yesterday |
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A mitotic transcriptional switch in polycystic kidney disease.
PMID 19966811 · DOI 10.1038/nm.2068 · https://pubmed.ncbi.nlm.nih.gov/19966811/
kidney and urinary tractCounseling
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pubmed peer_reviewed |
article | 2010-01-01 | 218 | 0.67 | 1 | yesterday |
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HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
PMID 20155289 · DOI 10.1007/s00467-010-1454-9 · https://pubmed.ncbi.nlm.nih.gov/20155289/
kidney and urinary tractHNF1B
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pubmed peer_reviewed |
article | 2010-06-01 | 214 | 1.00 | 1 | yesterday |
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Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenit...
PMID 20082465 · DOI 10.1002/ajmg.a.33194 · https://pubmed.ncbi.nlm.nih.gov/20082465/
diabetes and metabolismthe heartlearning, speech and behaviourHNF1BGCK
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pubmed peer_reviewed |
article | 2010-02-01 | 216 | 0.83 | 1 | yesterday |
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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
PMID 20378641 · DOI 10.2215/CJN.06810909 · https://pubmed.ncbi.nlm.nih.gov/20378641/
kidney and urinary tractHNF1Bdiabetes and metabolismCounselingUMOD
|
pubmed peer_reviewed |
article | 2010-06-01 | 252 | 1.00 | 1 | yesterday |
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Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine a...
PMID 20633866 · DOI 10.1016/j.ajog.2010.05.022 · https://pubmed.ncbi.nlm.nih.gov/20633866/
genital and Müllerian developmentHNF1Bkidney and urinary tract
|
pubmed peer_reviewed |
article | 2010-10-01 | 173 | 1.00 | 1 | yesterday |
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The Hepatocyte nuclear factor-1 alpha ( HNF1A) gene is associated with fatness and loin muscl...
PMID 22445113 · DOI 10.1017/S175173111000087X · https://pubmed.ncbi.nlm.nih.gov/22445113/
HNF1AHNF1BHNF4Adiabetes and metabolism
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pubmed peer_reviewed |
article | 2010-10-01 | 306 | 0.89 | 1 | yesterday |
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Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser...
PMID 20797712 · DOI 10.1016/j.fertnstert.2010.07.1062 · https://pubmed.ncbi.nlm.nih.gov/20797712/
genital and Müllerian developmentLHX1HNF1B
|
pubmed peer_reviewed |
article | 2011-04-01 | 130 | 1.00 | 1 | yesterday |
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HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
PMID 21380624 · DOI 10.1007/s00467-011-1826-9 · https://pubmed.ncbi.nlm.nih.gov/21380624/
kidney and urinary tractPAX2HNF1Bdiabetes and metabolismCounseling
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pubmed peer_reviewed |
article | 2011-06-01 | 211 | 0.85 | 1 | yesterday |
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Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
PMID 21499250 · DOI 10.1038/ng.812 · https://pubmed.ncbi.nlm.nih.gov/21499250/
tumour riskHNF1Bdiabetes and metabolism
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pubmed peer_reviewed |
article | 2011-05-01 | 136 | 1.00 | 1 | yesterday |
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Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations...
PMID 21438902 · DOI 10.1111/j.1365-2559.2011.03795.x · https://pubmed.ncbi.nlm.nih.gov/21438902/
HNF1Bkidney and urinary tracttumour risk
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pubmed peer_reviewed |
article | 2011-05-01 | 217 | 1.00 | 1 | yesterday |
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Large-scale fine mapping of the HNF1B locus and prostate cancer risk.
PMID 21576123 · DOI 10.1093/hmg/ddr213 · https://pubmed.ncbi.nlm.nih.gov/21576123/
tumour riskHNF1B
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pubmed peer_reviewed |
article | 2011-08-15 | 261 | 1.00 | 1 | yesterday |
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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
PMID 21775974 · DOI 10.1038/ki.2011.225 · https://pubmed.ncbi.nlm.nih.gov/21775974/
kidney and urinary tractHNF1Bdiabetes and metabolismliver and gallbladderCounseling
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pubmed peer_reviewed |
article | 2011-10-01 | 235 | 1.00 | 1 | yesterday |
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Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes...
PMID 22060211 · DOI 10.1111/j.1399-5448.2011.00827.x · https://pubmed.ncbi.nlm.nih.gov/22060211/
diabetes and metabolismHNF1BHNF1AGCKTherapy
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pubmed peer_reviewed |
article | 2012-02-01 | 263 | 0.89 | 1 | yesterday |
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HNF1B polymorphism associated with development of prostate cancer in Korean patients.
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tumour riskHNF1B
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pubmed peer_reviewed |
article | 2011-10-01 | 224 | 1.00 | 1 | yesterday |
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HNF1B deficiency causes ciliary defects in human cholangiocytes.
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HNF1Bliver and gallbladderkidney and urinary tractTCF2diabetes and metabolism
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pubmed peer_reviewed |
article | 2012-09-01 | 119 | 1.00 | 1 | yesterday |
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HNF1B deletions in patients with young-onset diabetes but no known renal disease.
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kidney and urinary tractdiabetes and metabolismHNF1BSurveillance
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pubmed peer_reviewed |
article | 2013-01-01 | 282 | 1.00 | 1 | yesterday |
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Identification and molecular characterization of HNF1B gene mutations in Indian diabetic pati...
PMID 25441779 · DOI 10.1111/ahg.12093 · https://pubmed.ncbi.nlm.nih.gov/25441779/
HNF1Bkidney and urinary tractdiabetes and metabolism
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pubmed peer_reviewed |
article | 2015-01-01 | 218 | 1.00 | 1 | yesterday |
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[Liver, kidneys and diabetes: three faces of HNF1B gene deficit].
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kidney and urinary tractdiabetes and metabolismHNF1Bliver and gallbladder
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pubmed peer_reviewed |
article | 2014-09-01 | 217 | 1.00 | 1 | yesterday |
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[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new ...
PMID 24119877 · DOI 10.1016/j.nephro.2013.05.004 · https://pubmed.ncbi.nlm.nih.gov/24119877/
kidney and urinary tractHNF1Bdiabetes and metabolismliver and gallbladderSurveillance
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pubmed peer_reviewed |
article | 2013-11-01 | 235 | 1.00 | 1 | yesterday |
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Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors.
PMID 25715395 · DOI 10.1128/MCB.24.7.2673-2681.2004 · https://pubmed.ncbi.nlm.nih.gov/25715395/
diabetes and metabolismHNF1B
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pubmed peer_reviewed |
article | 2015-03-01 | 251 | 1.00 | 1 | yesterday |
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HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
PMID 25536396 · DOI 10.1038/nrneph.2014.232 · https://pubmed.ncbi.nlm.nih.gov/25536396/
kidney and urinary tractHNF1Bdiabetes and metabolismliver and gallbladder
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pubmed peer_reviewed |
article | 2015-02-01 | 191 | 1.00 | 1 | yesterday |
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Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoent...
PMID 25741167 · DOI 10.3748/wjg.v21.i8.2550 · https://pubmed.ncbi.nlm.nih.gov/25741167/
liver and gallbladderHNF1Bkidney and urinary tractdiabetes and metabolism
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pubmed peer_reviewed |
article | 2015-02-28 | 268 | 1.00 | 1 | yesterday |
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Two new loci and gene sets related to sex determination and cancer progression are associated...
PMID 25877299 · DOI 10.1093/hmg/ddv129 · https://pubmed.ncbi.nlm.nih.gov/25877299/
tumour riskgenital and Müllerian developmentHNF1B
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pubmed peer_reviewed |
review | 2015-07-15 | 272 | 1.00 | 1 | yesterday |
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Hepatocyte nuclear factor 1 beta induces transformation and epithelial-to-mesenchymal transition.
PMID 27001343 · DOI 10.1002/1873-3468.12147 · https://pubmed.ncbi.nlm.nih.gov/27001343/
HNF1Btumour riskSurveillance
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pubmed peer_reviewed |
article | 2016-04-01 | 110 | 1.00 | 1 | yesterday |
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Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.
PMID 26932690 · DOI 10.1093/ndt/gfv465 · https://pubmed.ncbi.nlm.nih.gov/26932690/
kidney and urinary tractCounselingHNF1Bdiabetes and metabolism
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pubmed peer_reviewed |
article | 2016-10-01 | 286 | 1.00 | 1 | yesterday |
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Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in ...
PMID 27321323 · DOI 10.1016/j.diabres.2016.04.035 · https://pubmed.ncbi.nlm.nih.gov/27321323/
HNF1BHNF1AGCKdiabetes and metabolismSurveillance
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pubmed peer_reviewed |
article | 2016-06-01 | 76 | 1.00 | 1 | yesterday |
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Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
PMID 27297286 · DOI 10.1002/pd.4858 · https://pubmed.ncbi.nlm.nih.gov/27297286/
kidney and urinary tractHNF1Bdiabetes and metabolismSurveillance
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pubmed peer_reviewed |
article | 2016-08-01 | 180 | 0.83 | 1 | yesterday |
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Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare function...
PMID 27066855 · DOI 10.1016/j.schres.2016.03.029 · https://pubmed.ncbi.nlm.nih.gov/27066855/
learning, speech and behaviourHNF1BLHX1
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pubmed peer_reviewed |
article | 2016-07-01 | 254 | 1.00 | 1 | yesterday |
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Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients wi...
PMID 28618409 · DOI 10.1159/000477590 · https://pubmed.ncbi.nlm.nih.gov/28618409/
kidney and urinary tractHNF1BTherapy
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pubmed peer_reviewed |
article | 2017-01-01 | 264 | 0.74 | 1 | yesterday |
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Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no appa...
PMID 28040137 · DOI 10.1016/j.tjog.2016.08.004 · https://pubmed.ncbi.nlm.nih.gov/28040137/
CounselingACACAHNF1BLHX1Surveillance
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pubmed peer_reviewed |
article | 2016-12-01 | 199 | 1.00 | 1 | yesterday |
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Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndrome.
PMID 28804623 · DOI 10.1002/lt.23837 · https://pubmed.ncbi.nlm.nih.gov/28804623/
kidney and urinary tractSurveillanceResearchgenital and Müllerian developmentgrowth, gut and nutrition
|
pubmed peer_reviewed |
case_report | 2017-08-01 | 13.6k | 0.85 | 1 | yesterday |
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MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.
PMID 28766492 · DOI 10.5414/CN109149 · https://pubmed.ncbi.nlm.nih.gov/28766492/
kidney and urinary tractHNF1AHNF1Bdiabetes and metabolismlearning, speech and behaviour
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pubmed peer_reviewed |
article | 2017-09-01 | 174 | 1.00 | 1 | yesterday |
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[Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].
PMID 28881510 · DOI 10.3760/cma.j.issn.0578-1310.2017.09.006 · https://pubmed.ncbi.nlm.nih.gov/28881510/
kidney and urinary tractHNF1Bdiabetes and metabolismSurveillanceCounseling
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pubmed peer_reviewed |
article | 2017-09-02 | 404 | 1.00 | 1 | yesterday |
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Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals ...
PMID 29156765 · DOI 10.18632/oncotarget.3316 · https://pubmed.ncbi.nlm.nih.gov/29156765/
tumour riskHNF1BSurveillanceResearch
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pubmed peer_reviewed |
article | 2017-10-17 | 233 | 1.00 | 1 | yesterday |
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Choledochal Cyst with 17q12 Chromosomal Duplication.
PMID 28940454 · DOI 10.1111/ahg.12221 · https://pubmed.ncbi.nlm.nih.gov/28940454/
liver and gallbladderHNF1Bkidney and urinary tractTherapy
|
pubmed peer_reviewed |
article | 2018-01-01 | 155 | 1.00 | 1 | yesterday |
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HNF1B controls epithelial organization and cell polarity during ureteric bud branching and co...
PMID 29158444 · DOI 10.1242/dev.154336 · https://pubmed.ncbi.nlm.nih.gov/29158444/
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Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.
PMID 29422604 · DOI 10.1038/nprot.2011.409 · https://pubmed.ncbi.nlm.nih.gov/29422604/
diabetes and metabolismtumour riskHNF1B
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Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Ma...
PMID 29417725 · DOI 10.1111/pedi.12638 · https://pubmed.ncbi.nlm.nih.gov/29417725/
diabetes and metabolismTherapySurveillanceHNF1BINS
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De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
PMID 29576871 · DOI 10.5808/GI.2014.12.4.136 · https://pubmed.ncbi.nlm.nih.gov/29576871/
tumour riskkidney and urinary tractlearning, speech and behaviourHNF1Bgenital and Müllerian development
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Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
PMID 29434669 · DOI 10.1016/j.anngen.2003.09.001 · https://pubmed.ncbi.nlm.nih.gov/29434669/
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Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.
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Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
PMID 29956005 · DOI 10.1007/s00467-018-3992-5 · https://pubmed.ncbi.nlm.nih.gov/29956005/
kidney and urinary tractHNF1BNPHP1Surveillance
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Cross-Cancer Pleiotropic Associations with Lung Cancer Risk in African Americans.
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tumour riskgenital and Müllerian developmentNCBISurveillanceHNF1B
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diabetes and metabolismtumour risk
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PMID 31481685 · DOI 10.1002/pd.4926 · https://pubmed.ncbi.nlm.nih.gov/31481685/
HNF1Bdiabetes and metabolismkidney and urinary tractlearning, speech and behaviourliver and gallbladder
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Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small ce...
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Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
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kidney and urinary tractHNF1Bdiabetes and metabolismSurveillance
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Pten and Dicer1 loss in the mouse uterus causes poorly differentiated endometrial adenocarcinoma.
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PMID 34176013 · DOI 10.1007/s00431-021-04165-1 · https://pubmed.ncbi.nlm.nih.gov/34176013/
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PMID 34161864 · DOI 10.1016/j.ejmg.2021.104264 · https://pubmed.ncbi.nlm.nih.gov/34161864/
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PMID 34931465 · DOI 10.1111/jdi.13737 · https://pubmed.ncbi.nlm.nih.gov/34931465/
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PMID 35240056 · DOI 10.1101/2021.01.26.21250098 · https://pubmed.ncbi.nlm.nih.gov/35240056/
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PMID 35199045 · DOI 10.1016/j.xhgg.2022.100093 · https://pubmed.ncbi.nlm.nih.gov/35199045/
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PMID 35483445 · DOI 10.1053/j.gastro.2022.04.020 · https://pubmed.ncbi.nlm.nih.gov/35483445/
diabetes and metabolismtumour risk
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PMID 35733830 · DOI 10.2337/db21-0520 · https://pubmed.ncbi.nlm.nih.gov/35733830/
diabetes and metabolismTherapyHNF1AGCKkidney and urinary tract
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kidney and urinary tractHNF1Bdiabetes and metabolismlearning, speech and behaviourNIH
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PMID 36361644 · DOI 10.1038/s41436-019-0686-8 · https://pubmed.ncbi.nlm.nih.gov/36361644/
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PMID 36443337 · DOI 10.7554/eLife.13964 · https://pubmed.ncbi.nlm.nih.gov/36443337/
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PMID 36700567 · DOI 10.1212/WNL.0b013e3182a84163 · https://pubmed.ncbi.nlm.nih.gov/36700567/
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PMID 36572455 · DOI 10.1038/nrneph.2014.232 · https://pubmed.ncbi.nlm.nih.gov/36572455/
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PMID 37737534 · DOI 10.1111/jdi.14084 · https://pubmed.ncbi.nlm.nih.gov/37737534/
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PMID 38699388 · DOI 10.1146/annurev-genom-111021-032401 · https://pubmed.ncbi.nlm.nih.gov/38699388/
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