Results 161 to 170 of about 7,344,533 (183)

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

Experimental and Clinical Endocrinology and Diabetes, 2021
C Joana Marques, Rita Santos-Silva, Manuel Fontoura   +2 more
exaly  

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene

Molecular Diagnosis & Therapy, 2018
P. Concolino, Alessandra Costella
semanticscholar   +1 more source

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene

Hormones, 2022
Pavlos Fanis, Nicos Skordis, Vassos Neocleous   +2 more
exaly  

[Prenatal genetic analysis of a fetus with 21-hydroxylase deficiency due to compound heterozygous variants of CYP21A2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Weiguo Zhang, Jun Wang, Feiyan Pan, Milei Zhu, Wenluo Tu, Weiqing Zhang   +5 more
semanticscholar   +1 more source

Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation

Journal of Pediatric Endocrinology and Metabolism, 2023
Catarina R Ivo, Ana Laura Fitas, João Gonçalves   +2 more
exaly  

[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].

Zhonghua yi xue za zhi, 2019
Y. Gao, B. Yu, L. Lu, X. Y. Wu, J. Mao, X. Wang, A. Tong, S. Chen, M. Nie   +8 more
semanticscholar   +1 more source

[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].

Zhonghua yi xue za zhi, 2020
Y. Gao, B. Yu, L. Lu, X. Y. Wu, J. Mao, X. Wang, A. Tong, S. Chen, M. Nie   +8 more
semanticscholar   +1 more source

[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
Shurong Huang, Z. Su, Long-jiang Zhang, Xiu Zhao, P. Wen   +4 more
semanticscholar   +1 more source

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene

Clinical Endocrinology, 2015
S. Livadas, M. Dracopoulou, Antonia Dastamani, A. Sertedaki, M. Maniati-Christidi, A. Magiakou, C. Kanaka-Gantenbein, G. Chrousos, C. Dacou-voutetakis   +8 more
semanticscholar   +1 more source

Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9

Journal of Endocrinological Investigation, 2009
Malgorzata Wasniewska, L Baldazzi, M F Messina   +2 more
exaly