Results 111 to 120 of about 7,344,533 (183)

Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia. [PDF]

Int J Appl Basic Med Res
Kumar KCP, Banik S, Joy P, Sahoo S.
europepmc   +1 more source

Caracterização molecular de produtos de recombinação ilegítima envolvendo o agrupamento génico CYP21A1P-CYP21A2 em doentes com hiperplasia supra-renal congénita

, 2011
Tese de mestrado. Biologia (Biologia Humana e Ambiente), Universidade de Lisboa, Faculdade de Ciências, 2011A hiperplasia supra-renal congénita devido à deficiência 21-hidroxilase é uma das doenças autossómicas recessivas mais comum no Homem.
Tarelho, Ana Rita Abrantes
core  

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

Diagnosing CAH-X syndrome by long-read sequencing and identifying a novel genotype. [PDF]

Orphanet J Rare Dis
Li Z, Xu S, Fu Q, Du L, Lin Q, Lin H, E H, Liu H.   +7 more
europepmc   +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

Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques. [PDF]

Front Endocrinol (Lausanne)
de Miranda MC, de Oliveira ACM, Soares GJ, Batatinha JAP, Latronico AC, Mendonca BB, Bachega TASS.   +6 more
europepmc   +1 more source

Multi-Omics Mendelian Randomization and Colocalization Reveal Key Glycolipid Metabolism-Related Genes in Gestational Diabetes Mellitus. [PDF]

Int J Womens Health
Lin X, Zheng J, Qin N, Li Y.
europepmc   +1 more source

A Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Susceptibility Genes for Glomerular Diseases. [PDF]

Biomedicines
Mao L, Xu L, Zhu T, Liu X, Li Z.
europepmc   +1 more source

The role of Zearalenone in epigenetic modifications of candidate genes in Nellore heifers. [PDF]

Trop Anim Health Prod
Coelho LADS, Barbero RP, Pereira PRMT, Polido CEB, de Aguiar ACSR, Santos HA, de Mello MRB, Kern EL, Andia DC, Barbero MMD.   +9 more
europepmc   +1 more source

Steroidome Dysregulation and Complement C4 Copy Number Variation in Men With Central Serous Chorioretinopathy. [PDF]

Invest Ophthalmol Vis Sci
Zola M, Han JH, Quinodoz M, Bousquet E, Matet A, Kowalczuk L, Daruich A, Zhao M, Ullah M, Rivolta C, Eandi C, Arsenijevicz Y, Pussard E, Behar-Cohen F.   +13 more
europepmc   +1 more source