(Q36385217)

English

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

congenital disorder

0 references

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

0 references

author name string

Wuyan Chen

1

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Zhi Xu

2

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Miki Nishitani

3

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Carol Van Ryzin

4

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Nazli B McDonnell

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Deborah P Merke

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

publication date

12 August 2012

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

131

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

12

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1889-1894

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

Comprehensive genetic analysis of 182 unrelated families with 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=3493742

30 September 2017

Identification of copy number variation hotspots in human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: a comparison of Asian-Indian and European American populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

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=3493742

30 September 2017

Dancing with Complement C4 and the RP-C4-CYP21-TNX (RCCX) Modules of the Major Histocompatibility Complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities, and body mass index

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

Complement. Second of two parts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

Complement. First of two parts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

30 September 2017

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=3493742

30 September 2017

High frequency of nonclassical 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=3493742

30 September 2017

Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

28 June 2018

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3493742

28 June 2018

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1217-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1217-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1217-8

21 January 2018

Congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1217-8

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1217-8

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/10.1007%2FS00439-012-1217-8

21 January 2018

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions

1 reference

https://pubmed.ncbi.nlm.nih.gov/22886582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human complement components C4A and C4B genetic diversities: complex genotypes and phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22886582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-012-1217-8

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

0 references

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