Associated Papers
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Stoupa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.
Meulebrouck S et al.
Diabetologia, 2024
38051360 (PubMed )
Supplement: 125_2023_6035_MOESM1_ESM.pdf
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Carrera P et al.
Diabetologia, 2023
Tissue sensitivity to thyroid hormones may change over time.
Radetti G et al.
European Thyroid Journal, 2022
Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants.
Sun J et al.
Plos One, 2019
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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