Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A et al.
Clinical Immunology (orlando, Fla.), 2024
Genetic factors associated with hidradenitis suppurativa, a literature review.
Eble SM et al.
International Journal of Women's Dermatology, 2024
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A et al.
Research Square, 2024
Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.
Gezgin Y et al.
Molecular Biology Reports, 2022
Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.
Marzano AV et al.
Dermatology (basel, Switzerland), 2022
Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.
Kul Cinar O et al.
Frontiers in Pediatrics, 2022
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