(Q37228691)

19 August 2017

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title

Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency (English)

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congenital adrenal hyperplasia

19 August 2017

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Li-Qiang Zhao

1

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19 August 2017

Su Han

series ordinal

2

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19 August 2017

Hao-Ming Tian

series ordinal

3

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19 August 2017

publication date

1 May 2008

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World Journal of Pediatrics

19 August 2017

published in

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19 August 2017

volume

4

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19 August 2017

issue

2

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19 August 2017

page(s)

85-90

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Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia

19 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS12519-008-0016-8

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Steroid 11 beta-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene

1 reference

12 December 2020

On the membrane topology of vertebrate cytochrome P-450 proteins

1 reference

12 December 2020

Crystal structure and refinement of cytochrome P450terp at 2.3 A resolution

1 reference

12 December 2020

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

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12 December 2020

Congenital adrenal hyperplasia.

1 reference

12 December 2020

Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosis of congenital adrenal hyperplasia by rapid determination of 17alpha-hydroxyprogesterone in dried blood spots by gas chromatography/mass spectrometry following microwave-assisted silylation

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12 December 2020

Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Molecular modeling of the 3-D structure of cytochrome P-450scc

1 reference

12 December 2020

Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia

1 reference

12 December 2020

Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1

1 reference

12 December 2020

Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia

1 reference

12 December 2020

Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism

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12 December 2020

Hypertension and adrenal disorders

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12 December 2020

Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia

1 reference

12 December 2020

Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's

1 reference

12 December 2020

Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency

1 reference

12 December 2020

Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene

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12 December 2020

Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH).

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12 December 2020

Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol

1 reference

12 December 2020

Indicators of adult height outcome in classical 21-hydroxylase deficiency congenital adrenal hyperplasia

1 reference

12 December 2020

The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme

1 reference

12 December 2020

Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants

1 reference

12 December 2020

A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele

1 reference

12 December 2020

Serum cortisol and 17-hydroxyprogesterone concentrations in children with classic congenital adrenal hyperplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S12519-008-0016-8

Identifiers

DOI

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19 August 2017

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