Associated Papers
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
40429818 (PubMed )
Supplement: ijms-26-04672-s001.zip › ijms-3598274-supplementary.xlsx › Supporting_information_Table_S1
Pancreatic and Ileal Neuroendocrine Tumors: Metastatic Disease or a Novel MEN Syndrome?
Asa SL et al.
The American Journal of Surgical Pathology, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM2_ESM.xlsx › Sheet1
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Stalbow LA et al.
Diabetologia, 2023
36216889 (PubMed )
Supplement: 125_2022_5806_MOESM2_ESM.xlsx › ESM_Table_1
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
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.
Li LM et al.
Frontiers in Endocrinology, 2022
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S et al.
American Journal of Human Genetics, 2020
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
27974047 (PubMed )
Supplement: 12967_2016_1075_MOESM3_ESM.xlsx › Table_S7
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
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
IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes.
Gragnoli C et al.
Metabolism: Clinical and Experimental, 2005
Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews.
Behn PS et al.
Diabetes, 1998
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