Associated Papers
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis.
Lintas C et al.
Lung Cancer (amsterdam, Netherlands), 2025
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Şimşek E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
Elashi AA et al.
International Journal of Molecular Sciences, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X et al.
Frontiers in Medicine, 2021
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.
Pentsova EI et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016
Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling.
Pawlikowski JS et al.
The Journal of Investigative Dermatology, 2015
The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
Tatsi C et al.
Pediatric Diabetes, 2013
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC et al.
Plos One, 2013
Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.
Awa WL et al.
European Journal of Endocrinology, 2011
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
Diagnosis of HNF-1alpha mutations on a PNA zip-code microarray by single base extension.
Song JY et al.
Nucleic Acids Research, 2005
Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.
Ryffel GU
Journal of Molecular Endocrinology, 2001
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000
Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization.
Yoshiuchi I et al.
Diabetologia, 1999
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chèvre JC et al.
Diabetologia, 1998