Associated Papers
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Marino R et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency.
Pignatelli D et al.
Frontiers in Endocrinology, 2019
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.
Hannah-Shmouni F et al.
Reviews in Endocrine & Metabolic Disorders, 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
Genetics of Congenital Adrenal Hyperplasia.
Hannah-Shmouni F et al.
Endocrinology and Metabolism Clinics of North America, 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
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
Neocleous V et al.
Indian Journal of Endocrinology and Metabolism, 2014
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone.
Malikova J et al.
Clinical Endocrinology, 2012
Mutation analysis of the CYP21A2 gene in the Iranian population.
Rabbani B et al.
Genetic Testing and Molecular Biomarkers, 2012
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Marino R et al.
Clinical Endocrinology, 2011
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.
Skordis N et al.
Clinical Biochemistry, 2011
An update to 21-hydroxylase deficient congenital adrenal hyperplasia.
Trakakis E et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2010
Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
Caputo V et al.
Dermatology (basel, Switzerland), 2010
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.
Soardi FC et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
[21-Hydroxylase deficiency (nonclassical type)].
Usui T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).
Keen-Kim D et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
Dolzan V et al.
European Journal of Endocrinology, 2003
Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
Dain LB et al.
Clinical Endocrinology, 2002
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
Baumgartner-Parzer SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.
Balsamo A et al.
Clinical Endocrinology, 2000
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White PC et al.
Endocrine Reviews, 2000
Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.
Krone N et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
Lobato MN et al.
Human Heredity, 1999
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency.
Bachega TA et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
Levo A et al.
Human Genetics, 1997
Rapid screening method for detecting mutations in the 21-hydroxylase gene.
Oriola J et al.
Clinical Chemistry, 1997
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Nikoshkov A et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Witchel SF et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Day DJ et al.
Genomics, 1995
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
Barbat B et al.
Human Mutation, 1995
[Current data on the molecular biology of 21-hydroxylase deficiency. Diagnostic applications].
Mornet E et al.
Archives Francaises De Pediatrie, 1992
Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India.
Ravichandran L et al.
Indian Journal of Endocrinology and Metabolism, 0
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
Wedell A
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0