Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Yorifuji T et al.
Journal of Diabetes Investigation, 2023
Fetal renal cystic disease and post-natal follow up-a single center experience.
Botero-Calderon L et al.
Frontiers in Pediatrics, 2023
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.
Mateus JC et al.
Clinical Diabetes and Endocrinology, 2020
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
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P et al.
Scientific Reports, 2019
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
Yorifuji T et al.
Pediatric Diabetes, 2018
Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.
Jeannot E et al.
Diabetes, 2010
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
[Molecular scanning of MODY1 gene mutations in pedigrees of early onset type 2 diabetes in Beijing].
Jia HT et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006
[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].
Zhang R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.
Wang C et al.
Acta Diabetologica, 2004
[Scanning HNF-1 alpha gene mutation in Chinese early-onset and/or multiplex diabetes pedigrees].
Fang QC et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004