Associated Papers
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Liang D et al.
Genome Medicine, 2025
Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.
Jia X et al.
International Journal of Neonatal Screening, 2025
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 2025
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y et al.
Orphanet Journal of Rare Diseases, 2024
Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
Karlekar M et al.
Indian Pediatrics, 2024
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
Prado MJ et al.
International Journal of Molecular Sciences, 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
[Diagnostic value of multiplex ligation dependent probe amplification combined with Sanger sequencing in 21-hydroxylase deficiency].
Gao YJ et al.
Zhonghua Yi Xue Za Zhi, 2019
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R et al.
Hormone Research in Paediatrics, 2019
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
Su L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.
Liu J et al.
Molecular Medicine Reports, 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
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
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Pallan PS et al.
Molecular Endocrinology (baltimore, Md.), 2015
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease.
Ezquieta B et al.
Prenatal Diagnosis, 2010
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.
Friães A et al.
Molecular Genetics and Metabolism, 2006