original ) (raw )Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations
Vassos Neocleous , Leonidas Phylactou , Nicos Skordis
Indian Journal of Endocrinology and Metabolism, 2014
View PDFchevron_right
Research Article Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
Vassos Neocleous , Meropi Toumba
View PDFchevron_right
CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
Berenice Mendonca
Hormone and Metabolic Research, 2013
View PDFchevron_right
Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia
Nicos Skordis
International Journal of Endocrinology, 2017
View PDFchevron_right
Novel Mutations in CYP21 Detected in Individuals with Hyperandrogenism
Hélène Blanché
The Journal of Clinical Endocrinology & Metabolism, 2002
View PDFchevron_right
Common Genetic Variants of the Human Steroid 21- Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels
Klara Koncz , Marton Doleschall
View PDFchevron_right
Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
Vita Dolzan
European Journal of Endocrinology, 1999
View PDFchevron_right
Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Rosa Corcoy
HORMONES, 2014
View PDFchevron_right
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
Lucila Leico Kagohara Elias
Brazilian Journal of Medical and Biological Research, 2003
View PDFchevron_right
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene
Amalia Sertedaki
Clinical endocrinology, 2015
View PDFchevron_right
Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche
Daniela Carta
European Journal of Endocrinology, 2011
View PDFchevron_right
Genotyping of CYP21, Linked Chromosome 6p Markers, and a Sex-Specific Gene in Neonatal Screening for Congenital Adrenal Hyperplasia*
Phyllis W Speiser
2010
View PDFchevron_right
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
Vassos Neocleous
View PDFchevron_right
Genotyping of CYP21, Linked Chromosome 6p Markers, and a Sex-Specific Gene in Neonatal Screening for Congenital Adrenal Hyperplasia 1
Phyllis Speiser
The Journal of Clinical Endocrinology & Metabolism, 1999
View PDFchevron_right
Genetic defects of the CYP21A2 gene in girls with premature adrenarche
Nicos Skordis
Journal of Endocrinological Investigation, 2014
View PDFchevron_right
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
Hamza Nasir
Annals of pediatric endocrinology & metabolism, 2018
View PDFchevron_right
A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia
Violeta Anastasovska
Balkan Journal of Medical Genetics, 2010
View PDFchevron_right
Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Christopher Aston
Fertility and Sterility, 2005
View PDFchevron_right
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia
Leonidas Phylactou , Vassos Neocleous
Clinical Biochemistry, 2011
View PDFchevron_right
Mutations in the CYP21B gene in a Chilean population with simple virilizing congenital adrenal hyperplasia
Isabel Torrealba
Journal of Endocrinological Investigation, 2000
View PDFchevron_right
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
Tinka Hovnik
Acta Chimica Slovenica, 2016
View PDFchevron_right
Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
Paula Presti
European journal of endocrinology, 2016
View PDFchevron_right
The Frequency of Eight Common Point Mutations in CYP21 Gene in Iranian Patients with Congenital Adrenal Hyperplasia
Nejat Mahdieh
View PDFchevron_right
The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations
Jose Sancho
Fertility and Sterility, 1999
View PDFchevron_right
Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia
Mayara Prado
Molecular diagnosis & therapy, 2017
View PDFchevron_right