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
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.
Lao Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.
Claps A et al.
Scientific Reports, 2025
Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.
Wang X et al.
International Journal of Neonatal Screening, 2025
Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.
Casiraghi A et al.
Frontiers in Endocrinology, 2025
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia.
Zhang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
POR polymorphisms are associated with 21 hydroxylase deficiency.
Pecori Giraldi F et al.
Journal of Endocrinological Investigation, 2021
Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia.
Nan MN et al.
Journal of Clinical Medicine, 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
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L et al.
Clinical Biochemistry, 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
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Gialluisi A et al.
Clinical Genetics, 2018
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Simonetti L et al.
Human Mutation, 2018
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.
Doleschall M et al.
European Journal of Human Genetics : Ejhg, 2017
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Neocleous V et al.
International Journal of Endocrinology, 2017
High frequency of splice site mutation in 21-hydroxylase deficiency children.
Sharaf S et al.
Journal of Endocrinological Investigation, 2015
Impaired pre-mRNA processing and altered architecture of 3' untranslated regions contribute to the development of human disorders.
Michalova E et al.
International Journal of Molecular Sciences, 2013
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
New MI et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
Menabò S et al.
Journal of Endocrinological Investigation, 2012