Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes.
Gong S et al.
Diabetes & Metabolism Journal, 2025
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
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
Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report.
Guo M et al.
Frontiers in Endocrinology, 2021
A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
Kato T et al.
Internal Medicine (tokyo, Japan), 2018
New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation.
Kanda S et al.
Pediatric Transplantation, 2016
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Faguer S et al.
Kidney International, 2014
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
Childhood onset diabetes posttransplant in a girl with TCF2 mutation.
Tudorache E et al.
Pediatric Diabetes, 2012
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
Greeley SA et al.
Current Diabetes Reports, 2011
Genetics and pathophysiology of neonatal diabetes mellitus.
Naylor RN et al.
Journal of Diabetes Investigation, 2011
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.
Mayer C et al.
Metabolism: Clinical and Experimental, 2008
Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.
Lu P et al.
Biochemistry, 2007
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.
Edghill EL et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2006
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
Yorifuji T et al.
The Journal of Clinical Endocrinology and Metabolism, 2004