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
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Fujimaru T et al.
Kidney International Reports, 2024
Gitelman syndrome combined with diabetes mellitus: A case report and literature review.
Huang X et al.
Medicine, 2023
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report.
Xiao TL et al.
World Journal of Clinical Cases, 2021
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family.
Zhou P et al.
Iranian Journal of Public Health, 2016
Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.
Vettore AL et al.
Genome Medicine, 2015
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
[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
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
Barbacci E et al.
Human Molecular Genetics, 2004
Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.
Wang C et al.
Acta Diabetologica, 2004
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
[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