Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersRecent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAn overview of molecular diagnosis of steroid 21-hydroxylase deficiencyPulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyUniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanismsHypertension in mice lacking 11beta-hydroxysteroid dehydrogenase type 2.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.Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.Genetic determinants of human hypertension.Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectivelyCYP21 mutations and congenital adrenal hyperplasia.Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.Congenital adrenal hyperplasia: transition from chil dhood to adulthood.Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyGenome destabilization by homologous recombination in the germ lineEvolutionary origin of mutations in the primate cytochrome P450c21 geneDistribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiencyDisease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.Complexity in the major histocompatibility complex.21-Hydroxylase deficiency: from molecular genetics to clinical presentation.Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excessTenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.Newborn screening for congenital adrenal hyperplasia in New York State.Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.An update to 21-hydroxylase deficient congenital adrenal hyperplasia.Genetics of congenital adrenal hyperplasia.Molecular pathology of congenital adrenal hyperplasia.Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.Perspectives in Pediatric Pathology, Chapter 22. Testicular Involvement in Systemic Diseases.Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia.Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
P2860
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P2860
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
description
1988 nî lūn-bûn
@nan
1988 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@ast
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@en
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@nl
type
label
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@ast
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@en
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@nl
prefLabel
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@ast
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@en
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@nl
P2093
P2860
P356
P1476
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.
@en
P2093
P2860
P304
P356
10.1073/PNAS.85.12.4436
P407
P577
1988-06-01T00:00:00Z