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    Research 30 of 226

    1. 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
    2. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    3. Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism Journal der Deutschen Dermatologischen Gesellschaft · 2012 · 1 citations
    4. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess Fertility and Sterility · 2005 · 40 citations
    5. 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
    6. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    7. 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
    8. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    9. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    10. THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW Era s journal of medical research · 2024
    11. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    12. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    13. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    14. Association of Cyp11a Gene with Polycystic Ovarian Syndrome Patients in Lahore, Pakistan Pakistan Journal of Health Sciences · 2025
    15. Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia PLOS ONE · 2019 · 3 citations
    16. Generation of Genetically Modified Rats Using CRISPR/Cas9 Genome-Editing System to Reveal Novel Vitamin D Actions Medical Research Archives · 2021
    17. Sp6 downregulation of follistatin gene expression in ameloblasts Journal of medical investigation · 2008 · 28 citations
    18. Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector Scientific Reports · 2023
    19. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    20. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    21. Clinical Impact of Molecular Diagnostics in Endocrinology Hormone Research in Paediatrics · 2002 · 2 citations
    22. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    23. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    24. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 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. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
    27. Interactions of the Vitamin D Receptor with the Corepressor Hairless Journal of Biological Chemistry · 2007 · 42 citations
    28. Presence of Uterine Leiomyomas Has No Significant Impact on Gene Expression Profile in the Scalp of Patients with Central Centrifugal Cicatricial Alopecia JID innovations · 2021 · 2 citations
    29. The genetics of autism and steroid-related traits in prenatal and postnatal life Frontiers in Endocrinology · 2023 · 1 citations
    30. Epidermal retinol dehydrogenases cyclically regulate stem cell markers and clock genes and influence hair composition Communications biology · 2024