Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.
Ding Y et al.
Pediatric Diabetes, 2025
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
Yorifuji T et al.
Journal of Diabetes Investigation, 2023
Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.
Amaral S et al.
Diabetology & Metabolic Syndrome, 2023
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M et al.
European Journal of Human Genetics : Ejhg, 2022
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 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
Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report.
Xiao TL et al.
World Journal of Clinical Cases, 2021
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic.
Al-Kandari H et al.
Scientific 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
Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Zhou J et al.
Genes, 2021
Detection and analysis of glucose metabolism-related genes in childhood diabetes using targeted next-generation sequencing: In pediatric population-a hospital-based study.
Wang X et al.
Experimental and Therapeutic 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
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi I et al.
Kidney International Reports, 2019
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract.
Madariaga L et al.
Clinical Kidney Journal, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.
Yorifuji T et al.
Pediatric Diabetes, 2018
Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus.
Ozsu E et al.
Hormone Research in Paediatrics, 2018
Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation.
Faguer S et al.
Transplantation, 2016
Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities.
Kanthimathi S et al.
Annals of Human Genetics, 2015
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Faguer S et al.
Kidney International, 2014
A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.
Rasmussen M et al.
American Journal of Medical Genetics. Part A, 2013
Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations.
Wang C et al.
Diabetes Research and Clinical Practice, 2012
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S et al.
Kidney International, 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
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
Diabetes Mellitus With Renal and Müllerian Anomalies.
Agarwal K et al.
Aace Clinical Case Reports, 0