(Q34602068)

3 August 2017

1 reference

title

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency (English)

1 reference

congenital adrenal hyperplasia

3 August 2017

0 references

1 reference

Nils Krone

1

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Wiebke Arlt

object named as

Wiebke Arlt

series ordinal

4

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Vivek Dhir

series ordinal

2

object named as

Vivek Dhir

1 reference

3 August 2017

3

Hannah E Ivison

1 reference

3 August 2017

language of work or name

1 reference

1 February 2007

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3 August 2017

published in

Clinical Endocrinology

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3 August 2017

volume

66

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3 August 2017

issue

2

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3 August 2017

page(s)

162-172

1 reference

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

3 August 2017

cites work

1 reference

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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

21 January 2018

1 reference

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Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

21 January 2018

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Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

21 January 2018

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Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

21 January 2018

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High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland

21 January 2018

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Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value

21 January 2018

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Congenital adrenal hyperplasia.

21 January 2018

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Sexual function and fertility in adult females and males with congenital adrenal hyperplasia

21 January 2018

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Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society

21 January 2018

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Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology

21 January 2018

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Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening.

21 January 2018

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Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones

21 January 2018

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Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

21 January 2018

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Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

21 January 2018

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Structure of human steroid 21-hydroxylase genes

21 January 2018

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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

21 January 2018

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Disorders of steroid 11 beta-hydroxylase isozymes

21 January 2018

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Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency

21 January 2018

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High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco

21 January 2018

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CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency

21 January 2018

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Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

21 January 2018

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A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency

21 January 2018

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Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.

21 January 2018

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Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

21 January 2018

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Molecular biology of the 3beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family

21 January 2018

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Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.

21 January 2018

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Induction of endometrial cycles and ovulation in a woman with combined 17alpha-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene

21 January 2018

1 reference

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The genetic and functional basis of isolated 17,20-lyase deficiency

21 January 2018

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CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding

21 January 2018

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Minireview: regulation of steroidogenesis by electron transfer

21 January 2018

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Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

21 January 2018

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P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.

21 January 2018

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Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome

21 January 2018

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Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

21 January 2018

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Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

21 January 2018

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Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype

21 January 2018

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Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

21 January 2018

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Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

21 January 2018

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Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

21 January 2018

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Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis

21 January 2018

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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

21 January 2018

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FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome

21 January 2018

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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 January 2018

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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 January 2018

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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

21 January 2018

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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 2018

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FGFs, their receptors, and human limb malformations: clinical and molecular correlations

21 January 2018

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Fluconazole-induced congenital anomalies in three infants

21 January 2018

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Novel lipid modifications of secreted protein signals

21 January 2018

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Polycystic Ovary Syndrome

21 January 2018

1 reference

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5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate

21 January 2018

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5α-reduced C21 steroids are substrates for human cytochrome P450c17

21 January 2018

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Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

21 January 2018

1 reference

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Congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02740.X

Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency

21 January 2018

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Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02740.X

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02740.X

POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02740.X

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

21 January 2018

1 reference

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10.1111/J.1365-2265.2006.02740.X

21 January 2018

Identifiers

DOI

1 reference

release_scyit6patbc4pm777tkgkhawbm

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/scyit6patbc4pm777tkgkhawbm

mapped directly with Wikidata item

24 November 2022

based on heuristic

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