(Q33334349)

English

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

author name string

Silvia Parajes

1

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Celsa Quinteiro

2

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Fernando Domínguez

3

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

Lourdes Loidi

4

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

language of work or name

0 references

publication date

14 May 2008

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

e2138

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

copyright license

Creative Commons Attribution 4.0 International

14 May 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Congenital adrenal hyperplasia and P450 oxidoreductase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Extensive clinical experience: nonclassical 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

21 June 2018

Congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

31 October 2018

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2364643

31 October 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0002138

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/10.1371%2FJOURNAL.PONE.0002138

21 January 2018

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of newborn screening for congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three novel point mutations of the CYP21 gene detected in classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18478071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0002138

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

2008PLoSO...3.2138P

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 July 2017

ResearchGate publication ID

0 references

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