P450 oxidoreductase deficiency and Antley-Bixler syndrome (Q36981268)

17 August 2017

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title

P450 oxidoreductase deficiency and Antley-Bixler syndrome (English)

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17 August 2017

Wiebke Arlt

1

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publication date

1 December 2007

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Reviews in Endocrine and Metabolic Disorders

17 August 2017

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17 August 2017

8

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17 August 2017

4

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17 August 2017

301-307

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https://scigraph.springernature.com/pub.10.1007/s11154-007-9056-y

17 August 2017

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cites work

Fluconazole-induced congenital anomalies in three infants

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Crossref

https://api.crossref.org/works/10.1007%2FS11154-007-9056-Y

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11154-007-9056-Y

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

21 January 2018

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12 December 2020

Novel lipid modifications of secreted protein signals

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

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12 December 2020

Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient

1 reference

12 December 2020

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

High frequency of nonclassical steroid 21-hydroxylase deficiency

1 reference

12 December 2020

The human fetal adrenal cortex and the window of sexual differentiation

1 reference

12 December 2020

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome

1 reference

12 December 2020

Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Congenital adrenal hyperplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Cholesterol precursors and facial clefting

1 reference

12 December 2020

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

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

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12 December 2020

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

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12 December 2020

Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S11154-007-9056-Y

Identifiers

DOI

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17 August 2017

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PubMed ID

17960482