Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Yu F et al.
Chinese Medical Journal, 2025
Diabetic Ketoacidosis in Patients with Maturity-Onset Diabetes of the Young.
Müssig K
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2024
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M et al.
Pediatric Nephrology (berlin, Germany), 2024
Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H et al.
Journal of Molecular Cell Biology, 2023
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM et al.
European Journal of Human Genetics : Ejhg, 2023
Fetal renal cystic disease and post-natal follow up-a single center experience.
Botero-Calderon L et al.
Frontiers in Pediatrics, 2023
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.
Abreu GM et al.
Frontiers in Endocrinology, 2022
The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
Ge S et al.
Frontiers in Endocrinology, 2022
Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis.
Ge S et al.
Frontiers in Endocrinology, 2022
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report.
Guo M et al.
Frontiers in Endocrinology, 2021
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C et al.
Pediatric Nephrology (berlin, Germany), 2019
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.
Roehlen N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.
Verhave JC et al.
Journal of the American Society of Nephrology : Jasn, 2016
Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese.
Horikawa Y et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2014
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Role of HNF-1α and HNF-1β on insulin, IGF-1 and other potential target genes.
Kitanaka S
Expert Review of Endocrinology & Metabolism, 2008
In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation.
Fujimoto K et al.
Endocrine Journal, 2007
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
Bingham C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.
Furuta H et al.
The Journal of Clinical Endocrinology and Metabolism, 2002