Associated Papers
Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.
Hosomi SS et al.
Archives of Endocrinology and Metabolism, 2023
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Kocova M et al.
Frontiers in Endocrinology, 2021
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Pignatelli D et al.
Frontiers in Endocrinology, 2019
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.
Prado MJ et al.
Molecular Diagnosis & Therapy, 2017
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Concolino P et al.
Metabolism: Clinical and Experimental, 2017
Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.
Hayashi GY et al.
Clinical Endocrinology, 2017
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
de Carvalho DF et al.
European Journal of Endocrinology, 2016
A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.
Kaupert LC et al.
Hormone Research in Paediatrics, 2016
The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
Kaupert LC et al.
Clinical Genetics, 2013
Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency.
Katsumata N et al.
Metabolism: Clinical and Experimental, 2010
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Coeli FB et al.
Bmc Medical Genetics, 2010
Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia.
Silveira EL et al.
Clinical Genetics, 2009
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
Gomes LG et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.
Capoluongo E et al.
Human Genetics, 2008
The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene.
Rocha RO et al.
Clinical Endocrinology, 2008
Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency.
Concolino P et al.
Human Genetics, 2007
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].
Bachega TA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
Billerbeck AE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002