Results 181 to 190 of about 3,461 (195)

CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH.

2012
Background Congenital adrenal hyperplasia is caused mostly by 21-hydroxylase deficiency (>90%) and 11ß-hydroxylase deficiency (5–8%). Both enzymes are required for cortisol synthesis and the non classical (NC) phenotype of both deficiencies is characterized by hyper-androgenic manifestations in childhood/adolescence.
MENABO', SOARA, Marsigli A., BALDAZZI, LILIA, NICOLETTI, ANNALISA, PIRAZZOLI, PIERO, BALSAMO, ANTONIO   +5 more
openaire   +1 more source

Gene symbol: CYP21A2.

Human genetics, 2007
Veronique T V, Tardy, Yves, Morel
openaire   +7 more sources

Estimation of the inhibiting impact of abiraterone D4A metabolite on human steroid 21-monooxygenase (CYP21A2)

Steroids, 2020
Rami A Masamrekh, Tatiana Filippova, Natallia Strushkevich   +2 more
exaly  

A rare CYP21A2 haplotype clarifies the phenotype–genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)

Molecular Biology Reports, 2020
Paola Concolino, Concolino Paola
exaly  

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations

International Journal of Molecular Sciences, 2022
Mayara J Prado, Rodrigo Ligabue-Braun, Thaiane Rispoli   +2 more
exaly  

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

Molecular Genetics & Genomic Medicine, 2019
The-Hung Bui, Van Khanh Tran
exaly  

A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype nonconcordance

Annals of the New York Academy of Sciences, 2016
Ahmed Khattab, Mabel Yau, Li Sun
exaly  

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Human Genetics, 2012
Wuyan Chen, Zhi Xu, Carol Van Ryzin
exaly  

The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both

Endocrine, 2019
Bingqing Yu, Jiangfeng Mao, Min Nie
exaly  

Pregnanetriol in the Range of 1.2-2.1mg/m2/day as an Index of Optimal Control in CYP21A2 Deficiency

Clinical Pediatric Endocrinology, 2007
Masako Izawa
exaly