Associated Papers
Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes Society.
Yoshiji S et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Genomic analysis of small renal masses reveals mutations linked with renal cell carcinoma and fast-growing tumors.
Vaicekauskaitė I et al.
Journal of Cancer Research and Clinical Oncology, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.
Kassem PH et al.
Bmc Medical Genomics, 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 in a large Portuguese cohort.
Santos Monteiro S et al.
Acta Diabetologica, 2023
Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.
Zhou D et al.
Frontiers in Oncology, 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
Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
Ju HY et al.
Cancers, 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
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis.
Sturiale L et al.
Iscience, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Hepatic adenomatosis in a young woman with non-familial maturity-onset diabetes of the young type 3.
Miles DA et al.
Canadian Liver Journal, 2021
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Cardot Bauters C et al.
Endocrine Connections, 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
Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series.
Haddouche A et al.
Journal of Diabetes, 2020
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Razavi P et al.
Nature Medicine, 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
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
Heterogeneous responses and resistant mechanisms to crizotinib in ALK-positive advanced non-small cell lung cancer.
Kang J et al.
Thoracic Cancer, 2018
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.
Tung JY et al.
Pediatric Diabetes, 2018
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
Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.
Kovaleva V et al.
Molecular Cancer, 2016
Uncovering the genomic heterogeneity of multifocal breast cancer.
Desmedt C et al.
The Journal of Pathology, 2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.
Kirschner MM et al.
Plos One, 2015
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G et al.
Molecular Genetics and Metabolism, 2014
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
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young.
Thanabalasingham G et al.
Diabetes Care, 2012
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
Mutation of TCF1 encoding hepatocyte nuclear factor 1alpha in gynecological cancer.
Rebouissou S et al.
Oncogene, 2004
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
Ellard S
Human Mutation, 2000