Results 111 to 120 of about 4,066 (184)

RASTREAMENTO DO GENE CYP21A2 QUANTO A MUTAÇÕES EM PACIENTES COM HIPERPLASIA ADRENAL CONGÊNITA

, 2016
LUANA GAVIOLI DOS SANTOS, Maricilda Palandi de Mello, Débora de Paula Michelatto   +2 more
openalex   +2 more sources

Author response for "A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase"

, 2021
María Arriba, Josep Oriola, Begoña Ezquieta   +2 more
openalex   +1 more source

ID: 1048 A novel nonsense mutation in the CYP21A2 gene of a Vietnamese patient with congenital adrenal hyperplasia

, 2017
Vũ Chí Dũng, Ngoc Lan Nguyen, Huy H. Nguyen, Thi Kim Lien Nguyen, Thinh Huy Tran, Thanh Van Ta, Văn Khanh Trần   +6 more
openalex   +2 more sources

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients. [PDF]

J Ovarian Res
Huang Y, Jiang H, Zhu X, Mao A, Cui D, Zhao Y, Wang Y, Long X, Qiao J.   +8 more
europepmc   +1 more source

Avaliação dos critérios diagnósticos hormonais da forma não clássica da deficiência da 21-hidroxilase através do estudo molecular do gene CYP21A2 [PDF]

, 2003
Fernanda A. Correa, Tânia A.S.S. Bachega   +1 more
openalex   +1 more source

Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision. [PDF]

Biol Open
Bacila I, Oberski L, Li N, Storbeck KH, Cunliffe VT, Krone N.   +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

, 2018
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Fang Li, Jin Xu, Qingbo Guan, Chao Xu   +6 more
openalex   +2 more sources

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics. [PDF]

Front Endocrinol (Lausanne)
Chong H, Xue G, Pi Y, Zhang Y, Li Y, Xing Y, Chen B, Zhang H.   +7 more
europepmc   +1 more source

Αναζήτηση του είδους και της συχνότητας των μοριακών διαταραχών του γονιδίου CYP21A2 ( ΣΥΕ ) στο γενικό πληθυσμό, σε διάφορες περιοχές της Ελλάδος

, 2008
Αντωνία Δασταμάνη
openalex   +2 more sources

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree. [PDF]

Hum Mutat
Zhou W, Liu F, Li S, Wu D, Yang J.
europepmc   +1 more source