p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21-Hydroxylase Deficiency
Jean-Pierre BROSSIER
The Journal of Clinical Endocrinology & Metabolism, 2008
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CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
MILENA CALDATO
Genetics and Molecular Biology, 2008
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Normal Gestation and Diminished Androgen Responsiveness in an Untreated Patient with 21-Hydroxylase Deficiency
Laurence Jacobs
The Journal of Clinical Endocrinology & Metabolism, 1976
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Late-onset 21-hydroxylase deficiency: Reliable diagnosis by steroid analysis of random urine collections
Julian Irias
Steroids, 1986
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Frequency of CYP21 Gene Mutations in Czech Patients with Steroid 21-Hydroxylase Deficiency and Statistical Comparison with Other Populations
Karel Kotaska
Medical Principles and Practice, 2003
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The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations
Jose Sancho
Fertility and Sterility, 1999
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Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene
Yusuf Kenan Haspolat
Journal of Clinical Research in Pediatric Endocrinology, 2018
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Two Novel Mutations with 17 Hydroxylase Deficiency – Alpha and Beta Presenting as 46XY Disorders of Sexual Development
nikhil lohiya
Indian Journal of Child Health, 2019
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Estrogen-Metabolizing Gene Polymorphisms, Genetic Susceptibility, and Pharmacogenomics
Johannes Ott
The Role of Genetics in Breast and Reproductive Cancers, 2009
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Occurrence of CYP17A1 Gene Mutations in the 17Α-HYDROXYLASE in Pakistanis Population
Rana Muhammad Qasim
2020
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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency
Karin Jöhrer
The Journal of Clinical Endocrinology & Metabolism, 1996
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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
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Mutations of the 5α-Steroid Reductase Type 2 Gene in Six Turkish Patients from Unrelated Families and a Large Pedigree of an Isolated Turkish Village
Z. Aycan
Journal of Pediatric Endocrinology and Metabolism, 2002
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Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
Bon-chu Chung
Clinical …, 2000
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Polymorphisms in the P450 c17 (17-Hydroxylase/17,20-Lyase) and P450 c19 (Aromatase) Genes: Association with Serum Sex Steroid Concentrations and Bone Mineral Density in Postmenopausal Women
Geeta Hampson
The Journal of Clinical Endocrinology & Metabolism, 2004
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Linkage analysis of the C4A/ C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population
Katalin Rajczy
Molecular Immunology, 2009
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Molecular genetics of human chromosome 21
Rudy Tanzi
Journal of Medical Genetics, 1987
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The Genetics of Steroid 21-Hydroxylase Deficiency
Javier Aisenberg
The Endocrinologist, 2005
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Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency
Holger Luthman
Human Genetics, 1994
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Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
Cíntia Castro-Correia
Archives of Endocrinology and Metabolism, 2022
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Characterization of mutations causing steroid 21-hydroxylase deficiency in Brazilian and Portuguese populations
Thaiane Rispoli
bioRxiv, 2021
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Pharmacogenetics of human androgens and prostatic diseases
Giuseppe Novelli
Pharmacogenomics, 2001
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Using Real-Time, Quantitative PCR for Rapid Genotyping of the Steroid 21-Hydroxylase Gene in a North Florida Population
Jianwei Wang
The Journal of Clinical Endocrinology & Metabolism, 2002
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Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche
Arman Ansari
Advanced Biomedical Research, 2016
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High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency
Phyllis Speiser
Obstetrical & Gynecological Survey, 1986
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Steroid 21‐hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype–phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
noura zouari
Clinical Endocrinology, 2011
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Genetic causes of combined pituitary hormone deficiencies in humans
Thierry Brue
Annales d'Endocrinologie, 2012
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Nonclassic Steroid 21-Hydroxylase Deficiency due to a Homozygous V281L Mutation in CYP21A2 Detected by the Neonatal Mass-Screening Program in Japan
Reiko Horikawa
Endocrine Journal, 2007
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Naturally Occurring Mutants of Human Steroid 21-Hydroxylase (P450c21) Pinpoint Residues Important for Enzyme Activity and Stability
Holger Luthman
Journal of Biological Chemistry, 1998
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Principles of Endocrinology and Hormone Action
Paco G. López
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Genomics of steroid hormones: in silico analysis of nucleotide sequence variants (polymorphisms) of the enzymes involved in the biosynthesis and metabolism of steroid hormones
Peter Igaz
The Journal of steroid biochemistry and molecular biology, 2002
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High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
Fernando Dominguez
PLoS ONE, 2008
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Exon 7 Nco l Restriction Site within CYP21B (Steroid 21-Hydroxylase) Is a Normal Polymorphism
Rodrigo Neto
Molecular Endocrinology, 1990
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