Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Fetal renal cystic disease and post-natal follow up-a single center experience.
Botero-Calderon L et al.
Frontiers in Pediatrics, 2023
Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
Niborski LL et al.
Disease Models & Mechanisms, 2021
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
Kanthimathi S et al.
Annals of Human Genetics, 2015
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
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
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.
Harries LW et al.
Human Genetics, 2005
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.
Harries LW et al.
Diabetologia, 2004
Select a paper to view details