Associated Papers
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.
Murray Leech J et al.
Nature Metabolism, 2025
40925988 (PubMed )
Supplement: 42255_2025_1372_MOESM1_ESM.pdf
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.
Grand K et al.
Journal of the American Society of Nephrology : Jasn, 2023
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
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
Update on Monogenic Diabetes in Korea.
Yang YS et al.
Diabetes & Metabolism Journal, 2020
A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.
Tao T et al.
Medicine, 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
32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx
Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.
Kontogianni G et al.
Cancers, 2018
29596374 (PubMed )
Supplement: cancers-10-00096-s001.zip › Table_S1.xlsx › S1
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family.
Zhou P et al.
Iranian Journal of Public Health, 2016
Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?
Kim SH
Diabetes & Metabolism Journal, 2015
Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5).
Kim EK et al.
Genomics & Informatics, 2014
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
Select a paper to view details