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    Research 421–450 of 1000+

    1. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    2. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    3. 5 alpha-reductase-2 gene mutations in the Dominican Republic. The Journal of Clinical Endocrinology & Metabolism · 1996 · 53 citations
    4. Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor β Gene Are Associated with Androgen Levels in Women1 The Journal of Clinical Endocrinology and Metabolism · 2001 · 93 citations
    5. Evidence for Masculinization of Adipokine Gene Expression in Visceral and Subcutaneous Adipose Tissue of Obese Women With Polycystic Ovary Syndrome (PCOS) The Journal of Clinical Endocrinology and Metabolism · 2013 · 58 citations
    6. Common Variants in the Sex Hormone-Binding Globulin (SHBG) Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome Annals of Nutrition and Metabolism · 2015 · 24 citations
    7. Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. The Journal of Clinical Endocrinology & Metabolism · 1996 · 78 citations
    8. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene Journal of Pediatric Endocrinology and Metabolism · 2014 · 10 citations
    9. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations
    10. NMN alleviates oxidative stress damage in alopecia areata by activating SIRT7 and promoting glutamine metabolism Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · 2026
    11. Differential metabolic adaptations define responses of winner and loser oncogenic mutant stem cells in skin epidermis<i>in vivo</i> bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 2 citations
    12. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    13. Are sex hormones promising candidates to explain sex disparities in the COVID-19 pandemic? Reviews in endocrine and metabolic disorders · 2021 · 19 citations
    14. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    15. Alopecia: Association with Resistance to Thyroid Hormones 2009 · 8 citations
    16. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
    17. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl 2011 · 6 citations
    18. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes 2017 · 4 citations
    19. Thyroid Hormones Directly Alter Human Hair Follicle Functions: Anagen Prolongation and Stimulation of Both Hair Matrix Keratinocyte Proliferation and Hair Pigmentation The Journal of Clinical Endocrinology & Metabolism · 2008 · 115 citations
    20. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings 2017 · 5 citations
    21. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    22. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    23. Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease” Open Journal of Endocrine and Metabolic Diseases · 2022 · 1 citations
    24. Basics of androgen synthesis and action 2022 · 35 citations
    25. Bifidobacterium Is Enriched in Gut Microbiome of Kashmiri Women with Polycystic Ovary Syndrome Genes · 2022 · 9 citations
    26. Selected Abstracts Annals of Nutrition and Metabolism · 2008
    27. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    28. Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation 2019 · 1 citations
    29. Topical Gene Electrotransfer to the Epidermis of Hairless Guinea Pig by Non-Invasive Multielectrode Array PLOS ONE · 2013 · 22 citations
    30. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations