Results 131 to 140 of about 4,073 (218)

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene. [PDF]

Ann Pediatr Endocrinol Metab
Yoon JH, Hwang S, Kim JH, Kim GH, Yoo HW, Choi JH.   +5 more
europepmc   +1 more source

Identification of a Homozygous Variant in the <i>CYP21A2</i> Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA. [PDF]

Genes (Basel)
Petrillo N, Marcella S, Sirica R, Ianniello M, Ruggiero R, Mori A, Castiello R, Ramiro C, D'Angelo R, Pennacchio G, Barletta E, Passaro R, Fico A, Savarese G.   +13 more
europepmc   +1 more source

CYP21A2 Gene Analysis in Southern Iranian CAH Patients and a Brief Review of the Mutation Spectrum. [PDF]

Avicenna J Med Biotechnol
Zangene D, Moravej H, Ilkhanipoor H, Amirhakimi A, Afshar Z, Entezam M.   +5 more
europepmc   +1 more source

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree. [PDF]

Mol Med Rep, 2018
Liu J, Zhang X, Zhang H, Fang L, Xu J, Guan Q, Xu C.   +6 more
europepmc   +1 more source

Management of the Adult with Congenital Adrenal Hyperplasia [PDF]

, 2010
Richard J. Auchus
core   +1 more source

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype. [PDF]

Case Rep Endocrinol
Fylaktou I, Tsinopoulou VR, Sertedaki A, Kanaka-Gantenbein C, Galli-Tsinopoulou A.   +4 more
europepmc   +1 more source

A kardiovaszkuláris rizikó és a C4B gén hiányos haplotípusok közötti kapcsolat mechanizmusának vizsgálata [PDF]

, 2014
Bánlaki Zsófia
core   +1 more source

Transcript Patterns of Bovine <i>CYP21A2</i> and Its Pseudogene in Adrenal and Ovarian Tissues. [PDF]

Genes (Basel)
Wozniak J, Stachowiak M, Switonski M, Nowacka-Woszuk J.   +3 more
europepmc   +1 more source