(Q54369761)

English

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

scientific article published in October 2011

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scholarly article

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

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

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

author name string

Roxana Marino

1

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Pablo Ramirez

2

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Jesica Galeano

3

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Natalia Perez Garrido

4

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Carlos Rocco

5

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Marta Ciaccio

6

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Diana M Warman

7

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Gabriela Guercio

8

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Eduardo Chaler

9

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Mercedes Maceiras

10

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Ignacio Bergadá

11

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Mirta Gryngarten

12

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Viviana Balbi

13

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Esther Pardes

14

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Marco A Rivarola

15

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Alicia Belgorosky

16

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

publication date

1 October 2011

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Clinical Endocrinology

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

75

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

4

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

427-435

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

Congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

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%2FJ.1365-2265.2011.04123.X

21 January 2018

Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

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%2FJ.1365-2265.2011.04123.X

21 January 2018

Germ line mosaicism

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

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%2FJ.1365-2265.2011.04123.X

21 January 2018

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

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%2FJ.1365-2265.2011.04123.X

21 January 2018

Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2011.04123.X

21 January 2018

Identifiers

10.1111/J.1365-2265.2011.04123.X

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

1 reference

Europe PubMed Central

28 May 2018

http://europepmc.org/abstract/MED/21609351

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