Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
about
A Genetic-Pathophysiological Framework for CraniosynostosisPharmacogenomics of human P450 oxidoreductaseSteroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.Clinical and molecular review of atypical congenital adrenal hyperplasiaGenetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort.NADPH-cytochrome P450 oxidoreductase: roles in physiology, pharmacology, and toxicology.Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency.Genetics of congenital adrenal hyperplasia.Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.Cytochrome P450 Oxidoreductase Deficiency: Novel Cause of Ambiguity with Primary Amenorrhea.17-Hydroxyprogesterone in children, adolescents and adults.Management of disorders of sex development.Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency.Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree.Congenital Adrenal Hyperplasia.Disorders of sex development.Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.
P2860
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P2860
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@ast
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@en
type
label
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@ast
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@en
prefLabel
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@ast
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@en
P2093
P2860
P50
P356
P1476
Genotype-phenotype analysis in ...... P450 oxidoreductase deficiency
@en
P2093
Ann Haskins Olney
Berthold P Hauffa
Beverly A Hughes
Birgit Köhler
Cedric H L Shackleton
Christian L Roth
Dominique Maiter
Donna M O'Neil
Edward M Blair
Elizabeth Sweeney
P2860
P304
P356
10.1210/JC.2011-0640
P407
P577
2011-12-07T00:00:00Z