Associated Papers
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL et al.
Endocrine Reviews, 2022
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Espinosa Reyes TM et al.
Bmc Endocrine Disorders, 2020
Genetics of Congenital Adrenal Hyperplasia.
Hannah-Shmouni F et al.
Endocrinology and Metabolism Clinics of North America, 2017
Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems.
Stangler Herodež Š et al.
Balkan Journal of Medical Genetics : Bjmg, 2015
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
Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
Chen W et al.
Clinical Chemistry, 2012
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
Coeli FB et al.
Bmc Medical Genetics, 2010
Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.
Sadeghi F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Nimkarn S et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2007
[21-Hydroxylase deficiency (nonclassical type)].
Usui T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].
Bachega TA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.
Kharrat M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Torres N et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2003
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.
Billerbeck AE et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
Charmandari E et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia.
Hogg JE et al.
Annals of Clinical Biochemistry, 2002
Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
Dain LB et al.
Clinical Endocrinology, 2002
CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
Witchel SF et al.
Human Genetics, 2000
Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms.
Rumsby G et al.
Clinical Endocrinology, 1998
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
Wedell A
Acta Paediatrica (oslo, Norway : 1992), 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
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
Mutational analysis and genotype-phenotype correlation in patients with classic 21-hydroxylase deficiency from transylvania (north-west Romania).
Grigorescu-Sido A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0
[A new DNA diagnostic system for the detection of human CYP21 gene mutations associated with adrenal cortex hyperplasia].
Barannik AP et al.
Bioorganicheskaia Khimiia, 0
Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
Chang SF et al.
Genetic Testing and Molecular Biomarkers, 0
Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia.
Dardis A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0