Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland.
Thuesen ACB et al.
Canadian Journal of Diabetes, 2025
Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review.
Hu X et al.
Sage Open Medical Case Reports, 2025
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
39156164 (PubMed )
Supplement: mmc1.pdf
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
38196016 (PubMed )
Supplement: 467_2023_6262_MOESM3_ESM.xlsx › suppl._Tabl._2
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.
Grand K et al.
Journal of the American Society of Nephrology : Jasn, 2023
Kidney Histology Findings in a Patient with Autosomal Dominant Tubulointerstitial Kidney Disease Subtype Hepatocyte Nuclear Factor 1β.
Nakayama Y et al.
Internal Medicine (tokyo, Japan), 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
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
32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx
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
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
HNF1B deficiency causes ciliary defects in human cholangiocytes.
Roelandt P et al.
Hepatology (baltimore, Md.), 2012
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