Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y et al.
Bmc Medical Genomics, 2023
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.
Grand K et al.
Journal of the American Society of Nephrology : Jasn, 2023
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL et al.
Kidney International Reports, 2022
The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
Ge S et al.
Frontiers in Endocrinology, 2022
Liver Transplantation and Development of Diabetes in an Adolescent Male With HNF1B Disease.
Weckwerth JA et al.
Jpgn Reports, 2021
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 2021
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.
Gong K et al.
Scientific Reports, 2021
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
Pectus excavatum is part of the clinical spectrum of HNF1B MODY5.
Dubois-Laforgue D et al.
Diabetes Care, 2014
[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family].
Rigothier C et al.
Nephrologie & Therapeutique, 2009
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
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
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
Bellanné-Chantelot C et al.
Annals of Internal Medicine, 2004