Results 81 to 90 of about 2,714 (169)

Molecular analysis of the CYP21A2 gene in dried blood spot samples.

Medicina, 2020
Fil: Dratler, Gustavo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P.
Marino, Silvia, Perez Garrido, Natalia, Ramírez, Pablo, Pujana, Matías, Dratler, Gustavo, Belgorosky, Alicia, Marino, Roxana   +6 more
openaire   +3 more sources

CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS

Biomedicines
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still ...
Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todorova   +8 more
doaj   +1 more source

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

Molecular Genetics and Metabolism Reports, 2014
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel.
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller   +5 more
doaj   +1 more source

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)

Egyptian Journal of Medical Human Genetics
Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova, Andrey Glotov   +8 more
doaj   +1 more source

Comprehensive Genetic Testing of CYP21A2

The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic result.
Nan, Madalina Nicoleta, Roig, Rosa||, Martínez Figueroa, Susana||, Rives, Jose, Urgell, Eulàlia||, Espinós, Juan José||, Tirado Capistros, Mireia||, Carreras, Gemma||, Aulinas, Anna||, Webb, Susan||, Corcoy i Pla, Rosa||, Blanco Vaca, Francisco||, Tondo, Mireia||   +12 more
openaire   +1 more source

Genetics of 21-OH Deficiency and Genotype–Phenotype Correlation: Experience of the Hellenic National Referral Center

Current Issues in Molecular Biology
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with a ...
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki   +8 more
doaj   +1 more source

CYP21A2 Gene [PDF]

, 2020
openaire   +1 more source

CYP21A2 wt Allele [PDF]

, 2020
openaire   +1 more source

Comprehensive Mutation Analysis of the CYP21A2 Gene

The Journal of Molecular Diagnostics, 2013
Xu, Zhi, Chen, Wuyan, Merke, Deborah P., McDonnell, Nazli B.   +3 more
openaire   +1 more source

Integrated mapping resolves pathogenicity of 11 <i>CYP21A2</i> variants in congenital adrenal hyperplasia. [PDF]

J Endocr Soc
Xu Y, Matveeva A, Jørgensen FS, Pandey AV.   +3 more
europepmc   +1 more source