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    Research 30 of 217

    1. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess Fertility and Sterility · 2005 · 40 citations
    2. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status European journal of endocrinology · 1999 · 19 citations
    3. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    4. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    5. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    6. Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism Journal der Deutschen Dermatologischen Gesellschaft · 2012 · 1 citations
    7. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    8. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    9. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    10. A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs The Journal of Clinical Endocrinology and Metabolism · 2007 · 150 citations
    11. ラット精巣におけるビタミンD 代謝関連遺伝子の発現解析 Institutional Repositories DataBase (IRDB) · 2025
    12. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    13. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    14. Functional analysis of vitamin D receptor (VDR) using adenovirus vector 2023 · 4 citations
    15. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    16. Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice Acta histochemica · 2012 · 11 citations
    17. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    18. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    19. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    20. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    21. Acne-Associated Syndromes Springer eBooks · 2019
    22. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007 · 42 citations
    23. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
    24. Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling Journal of Biological Chemistry · 2003 · 215 citations
    25. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    26. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    27. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    28. Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes Endocrinology · 2005 · 78 citations
    29. A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency Hair transplant forum international · 2013 · 1 citations
    30. The Endocrine Function of the Skin: An Analytical Narrative Apollo medicine · 2023