Results 261 to 270 of about 75,903 (304)
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Biochemical and genetic diagnosis of 21-hydroxylase deficiency
Endocrine, 2015Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene and is often fatal in its classic forms if not treated with glucocorticoids. In contrast, non-classic CAH (NCCAH), with a prevalence from 0.1 % up to a few percentages in certain ethnic groups, only results in mild partial cortisol ...
Henrik, Falhammar +2 more
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A test for heterozygocity of 21-hydroxylase deficiency
Human Genetics, 1976The urinary excretion of steroids was studied in 8 parents of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency of the simple virilizing and of the salt-losing type. Eight parents of normal children served as controls.
J, Homoki, W M, Teller, A T, Fazekas
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Molecular pathology of steroid 21-hydroxylase deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 1991The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence.
T, Strachan, P C, White
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The biochemical basis for genotyping 21-hydroxylase deficiency
Human Genetics, 1981We describe three different forms of 21-hydroxylase deficiency-classical congenital adrenal hyperplasia (CAH), late-onset 21-hydroxylase deficiency, and cryptic 21-hydroxylase deficiency-and we present hormonal standards by which to assign the appropriate 21-hydroxylase deficiency genotype for these disorders.
M I, New +3 more
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[Genetic of the 21 hydroxylase deficiency].
Annales d'endocrinologie, 1982A dose genetic linkage exist between the HLA complex (especially HLA-B), and the 21 hydroxylase deficiency form of adrenal hyperplasia. By their polymorphisms HLA antigens can be used as "markers" to follow the segregation of 21-OH deficiency in families, to diagnose the heterozygous offspring and eventually to offer a prenatal diagnosis to couples at ...
A, Boué +4 more
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21-hydroxylase deficiency congenital adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology, 1994Congenital adrenal hyperplasia (CAH) results from an enzymatic block at any stage in the synthesis of cortisol. All enzyme defects causing CAH are autosomal recessive traits. It is a relatively common disease, occurring in 1 in 5000 to 1 in 15,000 births in most populations.
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DETECTION OF HETEROZYGOTE OF 21-HYDROXYLASE DEFICIENCY
The Lancet, 1980L S, Levine +5 more
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THE MOLECULAR GENETICS OF 21-HYDROXYLASE DEFICIENCY
Annual Review of Genetics, 1989W L, Miller, Y, Morel
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