(Q42462466)

English

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

scientific article published on 3 August 2014

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scholarly article

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10 March 2020

The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25041270%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

congenital disorder

0 references

congenital adrenal hyperplasia

1 reference

based on heuristic

inferred from title

author name string

M Dracopoulou

2

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10 March 2020

A Dastamani

3

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10 March 2020

A Sertedaki

4

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10 March 2020

M Maniati-Christidi

5

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10 March 2020

A-M Magiakou

6

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10 March 2020

C Kanaka-Gantenbein

7

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10 March 2020

C Dacou-Voutetakis

9

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10 March 2020

publication date

3 August 2014

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10 March 2020

Clinical Endocrinology

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10 March 2020

82

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10 March 2020

4

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10 March 2020

543-549

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10 March 2020

Congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

A favorable metabolic and antiatherogenic profile in carriers of CYP21A2 gene mutations supports the theory of a survival advantage in this population.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Anthropometric and endocrine features in girls with isolated premature pubarche or non-classical congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Late-onset 21-hydroxylase deficiency mimicking idiopathic hirsutism or polycystic ovarian disease

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Extensive clinical experience: nonclassical 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

21-Hydroxylase deficiency in female hyperandrogenism: screening and diagnosis.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12543

21 January 2018

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