Related references
Note: Only part of the references are listed.Genetics of congenital adrenal hyperplasia
Nils Krone et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
Paola Concolino et al.
BMC MEDICAL GENETICS (2009)
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia
Li-Ping Tsai et al.
CLINICA CHIMICA ACTA (2009)
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report
Paola Concolino et al.
CLINICA CHIMICA ACTA (2009)
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
Paola Concolino et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2009)
An update to 21-hydroxylase deficient congenital adrenal hyperplasia
Eftihios Trakakis et al.
GYNECOLOGICAL ENDOCRINOLOGY (2009)
Nonclassic adrenal hyperplasia
Phyllis W. Speiser
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS (2009)
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia:: Potential relevance of helix C for p450 oxidoreductase-21-hydroxylase interaction
Felix G. Riepe et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran
Alireza Baradaran-Heravi et al.
CLINICAL ENDOCRINOLOGY (2007)
A simple and robust quantitative PCR assay to determine CYP2/A2 gene dose in the diagnosis of 21-hydroxylase deficiency
Silvia Parajes et al.
CLINICAL CHEMISTRY (2007)
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia
Tiina Robins et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2007)
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia:: Identification, functional characterization, and structural analysis
Yulia Grischuk et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Molecular model of human CYP21 based on mammalian CYP2C5: Structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia
Tiina Robins et al.
MOLECULAR ENDOCRINOLOGY (2006)
Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein
Marco Janner et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2006)
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
M. Barbaro et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2006)
Serum γ-glutamyltransferase was differently associated with microalbuminuria by status of hypertension or diabetes:: The coronary artery risk development in young adults (CARDIA) study
DH Lee et al.
CLINICAL CHEMISTRY (2005)
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency)
D Keen-Kim et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2005)
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia
T Robins et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module
HH Lee
MOLECULAR GENETICS AND METABOLISM (2005)
PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module
HH Lee et al.
GENOMICS (2004)
The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency
HH Lee
JOURNAL OF HUMAN GENETICS (2004)
PCR-based detection of CYP21 deletions
PFJ Koppens et al.
CLINICAL CHEMISTRY (2003)
Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency
HH Lee et al.
CLINICAL CHEMISTRY (2003)
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency:: characteristics of three unusual haplotypes
PFJ Koppens et al.
HUMAN GENETICS (2002)
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients:: TNXB-TNXA hybrids in apparent large-scale gene conversions
PFJ Koppens et al.
HUMAN MOLECULAR GENETICS (2002)
Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population
RC Olney et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2002)
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
J Schalkwijk et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
CYP21 mutations and congenital adrenal hyperplasia
HH Lee
CLINICAL GENETICS (2001)
How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency
D L'Allemand et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)
Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians:: The load of RCCX genetic diversity on major histocompatibility complex-associated disease
CA Blanchong et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2000)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
PC White et al.
ENDOCRINE REVIEWS (2000)