Results 111 to 120 of about 3,461 (195)

Most frequent CYP21A2 genotypes, CAG allelic distribution and period of onset of hyperandrogenic manifestations.

, 2016
Most frequent CYP21A2 genotypes, CAG allelic distribution and period of onset of hyperandrogenic manifestations.
Larissa Garcia Gomes (2155534), Tânia A. Sartori Sanchez Bachega (2155531), Berenice Bilharinho de Mendonca (2155546), Vivian Oliveira Moura-Massari (2155528), José Antônio Miguel Marcondes (2155537), Diogo Bugano Diniz Gomes (2155543), Flávia Siqueira Cunha (2155540), Guiomar Madureira (2155549)   +7 more
core   +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 wt Allele [PDF]

, 2020
openaire   +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  

Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort_Supplementary materials

Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort_Supplementary ...
Wenjuan Qiu (11161892), Yongguo Yu (9710830), Ruifang Wang (18112462), Xiaomei Luo (502040)   +3 more
core   +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

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

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

[Congenital adrenal hyperplasia]. [PDF]

Probl Endokrinol (Mosk)
Vorontsova MV, Kokorina TS, Nuralieva NF, Yukina MY, Troshina EA, Melnichenko GA, Mokrysheva NG.   +6 more
europepmc   +1 more source

Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study.

, 2017
BACKGROUND: Congenital adrenal hyperplasia (CAH) is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000. About one in 70 individuals in the general population are carriers of a severe CYP21A2 mutation. It has
Catarina Almqvist Malmros (18687481), Agnieszka Butwicka (18678943), Anna Nordenström (18682474), Agneta Nordenskjöld (18682477), Angelica Hirschberg (18688693), Henrik Falhammar (18667849), Louise Frisén (18682489)   +6 more
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