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
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.
Olthof A et al.
Archives of Disease in Childhood, 2025
Assisted Reproduction Technology Treatment Outcomes in Female Carriers of 21-Hydroxylase Deficiency.
Arcaz AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.
Schernthaner-Reiter MH et al.
European Journal of Endocrinology, 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
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.
Ravichandran L et al.
Indian Journal of Pediatrics, 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
Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.
Concolino P et al.
Journal of the Endocrine Society, 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
Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.
Karlekar M et al.
Indian Pediatrics, 2024
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene.
Concolino P
Current Issues in Molecular Biology, 2024
Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study.
Polat S et al.
Journal of Endocrinological Investigation, 2023
Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
Li H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
Lao Q et al.
Molecular Genetics & Genomic Medicine, 2023
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.
Kim JH et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL et al.
Endocrine Reviews, 2022
The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.
Zhao Z et al.
Frontiers in Endocrinology, 2022
Establishment of Clinical and Lab Algorithms for the Identification of Carriers of Mutations in CYP21A2 - A Study of 365 Children and Adolescents.
Meinel J et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2021
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica.
Umaña-Calderón A et al.
Molecular Genetics and Metabolism Reports, 2021
Salt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "Mild" Mutations.
Ilany J et al.
The Journal of Clinical Endocrinology and Metabolism, 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
[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].
Huang S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.
Wang X et al.
Frontiers in Genetics, 2020
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Concolino P
Molecular Diagnosis & Therapy, 2019
High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening.
Castro PS et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
Chi DV et al.
Molecular Genetics & Genomic Medicine, 2019
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
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E et al.
Human Reproduction Update, 2017
Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.
Forouzanfar K et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2015
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.
Livadas S et al.
Clinical Endocrinology, 2015
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
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B et al.
Gene, 2013
Mutation analysis of the CYP21A2 gene in the Iranian population.
Rabbani B et al.
Genetic Testing and Molecular Biomarkers, 2012
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
Concolino P et al.
Bmc Medical Genetics, 2009
Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
Zhang HJ et al.
Clinical Endocrinology, 2009
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
Menassa R et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
Araújo RS et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
Araujo RS et al.
Clinical Endocrinology, 2005