Results 171 to 180 of about 7,344,533 (183)

Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency

Experimental and Clinical Endocrinology and Diabetes, 2012
J -J Lee, Chul-Woo Jung, Justin M Ko
exaly  

Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Hormone and Metabolic Research, 2015
Bartosz Kiedrowicz, Andrzej Ciechanowicz, Anhelli Syrenicz   +2 more
exaly  

[Molecular and clinical study on homozygous or heterozygous large deletion of CYP21A2 gene in 21-OHD patients].

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

Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2016
Manish Raisingani, M. Contreras, K. Prasad, J. Pappas, M. Kluge, Bina Shah, R. David   +6 more
semanticscholar   +1 more source

Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl

Journal of Endocrinological Investigation, 2014
Malgorzata Wasniewska, F De Luca, Wasniewska M   +2 more
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  

A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

Journal of Pediatric Endocrinology and Metabolism, 2013
exaly  

Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia

Cytology and Genetics, 2016
S Yu Chernushyn, L A Livshits, Livshits L A   +2 more
exaly  

Mutational Analysis of CYP21A2 Gene and CYP21A1P Pseudogene: Long-range PCR on Genomic DNA

Methods in Molecular Biology, 2014
Hsien-Hsiung Lee
exaly  

Common CYP21A2 Gene Mutations in South Indian Congenital Adrenal Hyperplasia Patients

, 2017
R. Nageshwari, M. Dhivakar, K. Balakrishnan, S. A. Selvan, V. Kumaravel   +4 more
semanticscholar   +1 more source