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
39156164 (PubMed )
Supplement: mmc1.pdf
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.
Pavithram A et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
Oram RA et al.
American Journal of Obstetrics and Gynecology, 2010
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.
Lu P et al.
Biochemistry, 2007
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
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
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.
Bohn S et al.
Journal of the American Society of Nephrology : Jasn, 2003
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
Bingham C et al.
Kidney International, 2002
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