Results 341 to 350 of about 2,389,640 (367)
Some of the next articles are maybe not open access.
Human Immunology, 1980
Abstract The congenital form of 21-hydroxylase deficiency (21-OH-def), which results in virilization at birth from intrauterine exposure to testosterone, results from the inheritance of an HLA-linked recessive disease allele from each parent a t the 21-OH locus (the 21-OH 0 allele).
F. Lorenzen +21 more
openaire +3 more sources
Abstract The congenital form of 21-hydroxylase deficiency (21-OH-def), which results in virilization at birth from intrauterine exposure to testosterone, results from the inheritance of an HLA-linked recessive disease allele from each parent a t the 21-OH locus (the 21-OH 0 allele).
F. Lorenzen +21 more
openaire +3 more sources
Molecular pathology of 21‐hydroxylase deficiency
Journal of Inherited Metabolic Disease, 1994SummarySteroid 21‐hydroxylase deficiency is a recessively inherited disorder of adrenal steroidogenesis. Different clinical variants map to a single geneCYP21B, which maps within the HLA complex and is located about 30 kb proximal to a very closely related 21‐hydroxylase pseudogene,CYP21A.
openaire +3 more sources
Genetics of steroid 21-hydroxylase deficiency
Trends in Genetics, 1985Abstract Classical and non-classical adrenal hyperplasia due to steroid 21-hydroxylase deficiency (210HD) are HLA-linked, autosomal recessive disorders characterized by a variable degree of hyperandrogenism and cortisol deficiency. Direct screening of newborns has placed the incidence of the classical disease at 1 : 5000 to 1 : 15 000, whereas the ...
Maria I. New, Phyllis W. Speiser
openaire +2 more sources
Molecular Genetics of 21- Hydroxylase Deficiency
2010More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase activity. The CYP21A2 gene is located in the HLA class III region, as a component of so called RCCX modules
openaire +3 more sources
ADRENAL STEROIDOGENESIS IN HETEROZYGOTES FOR 21‐HYDROXYLASE DEFICIENCY
Clinical Endocrinology, 1979SUMMARYAdrenal steroidogenesis has been studied in vivo in eight obligate heterozygotes (six men and two women) for 21‐hydroxylase deficiency and the results compared with twenty‐one normal subjects. Serum levels of nine steroids on the biosynthetic pathway (the Δ53β‐hydroxysteroids, pregnenolone (Pe), 17α‐hyd‐roxypregnenolone (17Pe ...
D. C. Anderson +2 more
openaire +3 more sources
21-Hydroxylase Deficiency: Screening and Incidence in Israel
Hormone Research, 1997Neonatal screening for congenital adrenal hyperplasia was introduced in 1977. However, even today only a few national screening programs exist and their cost effectiveness is still debatable. This study was conducted in order to evaluate the advisability of a national or regional screening program in Israel.From June 1987 until December 1992 we ...
Mordechai Schreiber +3 more
openaire +3 more sources
Genetics of Steroid 21-Hydroxylase Deficiency
1987Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one of the most common inborn errors of metabolism. The 21-OHase locus is closely linked to the HLA major histocompatibility complex, and 21-OHase deficiency alleles show characteristic associations with particular HLA antigens and with alleles
openaire +3 more sources
DETECTION OF HETEROZYGOTE OF 21-HYDROXYLASE DEFICIENCY
The Lancet, 1980L S Levine +5 more
openaire +5 more sources
Steroid 21-hydroxylase deficiency
Current Opinion in Pediatrics, 1989Perrin C. White +2 more
openaire +2 more sources