Associated Papers
Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.
Jia X et al.
International Journal of Neonatal Screening, 2025
41440812 (PubMed )
Supplement: IJNS-11-00116-s001.zip › IJNS-3967543-supplementary.pdf
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Nguyen KN et al.
Annals of Pediatric Endocrinology & Metabolism, 2025
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.
Prado MJ et al.
Frontiers in Pharmacology, 2022
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
How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations.
Lin B et al.
Physical Chemistry Chemical Physics : Pccp, 2020
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.
Wang C et al.
The Journal of Biological Chemistry, 2017
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
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