Associated Papers
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.
Kickova T et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2024
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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › -2_position
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
32910913 (PubMed )
Supplement: mmc4.xlsx › Sheet1
Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.
Esfahani MS et al.
Nature Communications, 2019
31836708 (PubMed )
Supplement: 41467_2019_13392_MOESM4_ESM.xlsx › Sheet1
Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.
Zamò A et al.
Leukemia, 2018
28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
Najmi LA et al.
Diabetes, 2017
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
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