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Research 30 of 197
- Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
- Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
- Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
- CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
- Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
- Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
- Nonclassic Congenital Adrenal Hyperplasia: An Overview
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
- 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
- First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
- Nonclassic adrenal hyperplasia
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
- Non-classic congenital adrenal hyperplasia
- SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
- A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
- The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
- Congenital Adrenal Hyperplasia
- A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- E-Poster
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Androgens and androgen receptor action in skin and hair follicles
- Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
- A genomic approach to susceptibility and pathogenesis leads to identifying potential novel therapeutic targets in androgenetic alopecia