Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic potentials.
Zhu W et al.
Cell Biology and Toxicology, 2025
Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees.
Ran CQ et al.
Current Medical Science, 2025
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.
Zhou Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
High Prevalence and Common Forms of Maturity-onset Diabetes of the Young in Greenland.
Thuesen ACB et al.
Canadian Journal of Diabetes, 2025
Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.
Geng H et al.
Blood Advances, 2025
Chinese carrier of the HNF1A p.Gln444fs variant exhibits enhanced response to sulfonylureas.
Wang X et al.
Heliyon, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Li M et al.
Reviews in Endocrine & Metabolic Disorders, 2023
An insulin hypersecretion phenotype precedes pancreatic β cell failure in MODY3 patient-specific cells.
Hermann FM et al.
Cell Stem Cell, 2023
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.
Kavitha B et al.
Frontiers in Endocrinology, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
The coexistence of autoimmune diabetes and maturity-onset diabetes of the young (MODY): a case series.
O'Donovan EM et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Mutational landscape of normal epithelial cells in Lynch Syndrome patients.
Lee BCH et al.
Nature Communications, 2022
A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.
Kettunen JLT et al.
Diabetologia, 2022
HNF1A Mutations and Beta Cell Dysfunction in Diabetes.
Miyachi Y et al.
International Journal of Molecular Sciences, 2022
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
McGlacken-Byrne SM et al.
European Journal of Endocrinology, 2022
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
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
Novel targetable FGFR2 and FGFR3 alterations in glioblastoma associate with aggressive phenotype and distinct gene expression programs.
Georgescu MM et al.
Acta Neuropathologica Communications, 2021
Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis.
Alunni-Fabbroni M et al.
Cancers, 2021
Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.
Charo LM et al.
Molecular Oncology, 2021
Case Report: Grade 2 Metastatic Pancreatic Neuroendocrine Tumor With Progression of One Metastasis After Pregnancy to Grade 3 Large-Cell Neuroendocrine Carcinoma: One Case Cured by Resection With Genomic Characterization of the Two Components.
Raoul JL et al.
Frontiers in Oncology, 2021
Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.
Čerina D et al.
Pathology Oncology Research : Por, 2021
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.
Carlsson A et al.
Diabetes Care, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes.
Juszczak A et al.
Diabetes Care, 2019
Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family.
Pace NP et al.
Clinical Medicine Insights. Case Reports, 2019
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd MH et al.
Diabetologia, 2018
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
Locke JM et al.
Diabetes, 2018
Maturity onset diabetes of the young due to HNF1A variants in Croatia.
Pavić T et al.
Biochemia Medica, 2018
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.
Giuffrida FMA et al.
Diabetes Research and Clinical Practice, 2017
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
Shepherd M et al.
Diabetes Care, 2016
Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?
Timsit J et al.
Canadian Journal of Diabetes, 2016
Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.
Weinert LS et al.
Diabetes Research and Clinical Practice, 2014
Clinical utility gene card for: Maturity-onset diabetes of the young.
Colclough K et al.
European Journal of Human Genetics : Ejhg, 2014
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
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.
Irgens HU et al.
Diabetologia, 2013
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
Colclough K et al.
Human Mutation, 2013
Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.
Rinner B et al.
Bmc Genomics, 2012
Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.
Kyithar MP et al.
Diabetes & Metabolism, 2011