Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
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
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.
Grand K et al.
Journal of the American Society of Nephrology : Jasn, 2023
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.
Sztromwasser P et al.
Pediatric Diabetes, 2020
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
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P et al.
Scientific Reports, 2019
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
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.
Raaijmakers A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.
Cornec-Le Gall E et al.
Human Mutation, 2014
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Faguer S et al.
Kidney International, 2014
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?
Ferrè S et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S et al.
Kidney International, 2011
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.
Bollée G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Heidet L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008