(Q36799091)

16 August 2017

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title

Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (English)

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congenital adrenal hyperplasia

16 August 2017

0 references

1 reference

Saroj Nimkarn

1

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16 August 2017

Maria I New

series ordinal

2

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16 August 2017

publication date

1 May 2007

1 reference

Nature Clinical Practice Endocrinology and Metabolism

16 August 2017

published in

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16 August 2017

volume

3

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16 August 2017

issue

5

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16 August 2017

page(s)

405-413

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Minimal surgical intervention in the management of intersex conditions

16 August 2017

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Genetic defects of steroidogenesis in premature pubarche

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Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia

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Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels

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7 January 2021

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7 January 2021

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Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

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Structure of human steroid 21-hydroxylase genes

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7 January 2021

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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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7 January 2021

The development of steroidogenesis

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In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development

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7 January 2021

Diagnosis of the adrenogenital syndrome before birth

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A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency

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Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia

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7 January 2021

Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations

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7 January 2021

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

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7 January 2021

Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions

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7 January 2021

Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency

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7 January 2021

Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study

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7 January 2021

Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies

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Abnormal sex differentiation

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7 January 2021

Gender development in women with congenital adrenal hyperplasia as a function of disorder severity.

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7 January 2021

Prenatal glucocorticoids and long-term programming

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7 January 2021

How safe is long-term prenatal glucocorticoid treatment?

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7 January 2021

Mothers' reactions to prenatal diagnostic procedures and dexamethasone treatment of congenital adrenal hyperplasia.

1 reference

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7 January 2021

Prenatal treatment of congenital adrenal hyperplasia

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7 January 2021

Human foetal palatal corticoid receptors and teratogens for cleft palate

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7 January 2021

CONVERSION OF PROGESTERONE-4-14C TO 18-HYDROXYCORTICOSTERONE AND ALDOSTERONE BY MOUSE ADRENALS IN VITRO

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7 January 2021

In VitroSteroidogenesis by the Adrenal Glands of Mice

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7 January 2021

Outcomes at school age after postnatal dexamethasone therapy for lung disease of prematurity

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7 January 2021

Glucocorticoid administration alters nuclear transcription factors in fetal rat brain: implications for the use of antenatal steroids

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7 January 2021

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7 January 2021

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7 January 2021

Is prenatal glucocorticoid administration another origin of adult disease?

1 reference

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7 January 2021

Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: results of a pilot study

1 reference

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7 January 2021

Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Prenatal treatment of congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

1 reference

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7 January 2021

Mutations in steroid 21-hydroxylase (CYP21)

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPENDMET0481

7 January 2021

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NCPENDMET0481

1 reference

16 August 2017

1 reference