Associated Papers
Systematic and proactive evaluation of AIRE missense variant effects.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
41332640 (PubMed )
Supplement: media-2.xlsx › APS-1_patient_cohort
A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1.
Vitozzi S et al.
Immunogenetics, 2024
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli S et al.
Journal of Endocrinological Investigation, 2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Zhan F et al.
Immunologic Research, 2021
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-2_Final_021921.xlsx › Table_S3.2
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes.
Carpino A et al.
Genes, 2021
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Cinque L et al.
Biomedicines, 2020
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Mazza C et al.
Clinical Immunology (orlando, Fla.), 2011
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