Associated Papers
Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.
de Sousa Azulay RS et al.
Genes, 2025
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Graves LE et al.
Frontiers in Endocrinology, 2025
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
Serum Steroid Profiling by Liquid Chromatography-Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report.
Cicalini I et al.
Metabolites, 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 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Elmougy F et al.
Annals of the New York Academy of Sciences, 2018
Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.
Lang-Muritano M et al.
Frontiers in Pediatrics, 2017
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Neocleous V et al.
International Journal of Endocrinology, 2017
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Milacic I et al.
Journal of Endocrinological Investigation, 2015
Genetic defects of the CYP21A2 gene in girls with premature adrenarche.
Skordis N et al.
Journal of Endocrinological Investigation, 2015
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
Neocleous V et al.
Indian Journal of Endocrinology and Metabolism, 2014
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coeli-Lacchini FB et al.
Gene, 2013
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Németh S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Neocleous V et al.
Georgian Medical News, 2012
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.
Skordis N et al.
Clinical Biochemistry, 2011
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
Vrzalová Z et al.
International Journal of Molecular Medicine, 2010
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Bidet M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
Vrzalová Z et al.
European Journal of Medical Genetics, 0