(Q33619862)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20587039%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency (English)

1 reference

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6 February 2020

author

Luciana Campos Paulino

5

1 reference

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6 February 2020

Gil Guerra-Junior

10

1 reference

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6 February 2020

author name string

Fernanda B Coeli

1

1 reference

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6 February 2020

Fernanda C Soardi

2

1 reference

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6 February 2020

Renan D Bernardi

3

1 reference

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6 February 2020

Marcela de Araújo

4

1 reference

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6 February 2020

Ivy F Lau

6

1 reference

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6 February 2020

Reginaldo J Petroli

7

1 reference

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6 February 2020

Sofia H V de Lemos-Marini

8

1 reference

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6 February 2020

Maria T M Baptista

9

1 reference

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6 February 2020

Maricilda P de-Mello

11

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6 February 2020

publication date

29 June 2010

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6 February 2020

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6 February 2020

volume

11

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6 February 2020

page(s)

104

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A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Real-time PCR quantification of human complement C4A and C4B genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Diversity of the CYP21P-like gene in CYP21 deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Inborn errors of adrenal steroidogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

An overview of molecular diagnosis of steroid 21-hydroxylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Frequent deletion and duplication of the steroid 21-hydroxylase genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Structure of human steroid 21-hydroxylase genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Heterogeneity of human C4 gene size. A large intron (6.5 kb) is present in all C4A genes and some C4B genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

A unique recombination event resulting in a C4A*Q0,C4B*Q0 double null haplotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

A rare TaqI polymorphism in a human complement C4 gene is caused by an additional restriction site in the first intron

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3161346

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

The reaction mechanism of the internal thioester in the human complement component C4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-104

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

21 January 2018

1 reference

12 December 2020

Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital adrenal hyperplasia: diagnostic advances

1 reference

12 December 2020

Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency

1 reference

12 December 2020

CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands

1 reference

12 December 2020

How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-11-104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20587039%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20587039%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

20587039

1 reference