(Q43169442)

English

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

scientific article published in July 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

0 references

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Ehlers-Danlos syndrome

0 references

Fransiska Malfait

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

S Symoens

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

P Coucke

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

L Nunes

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

S De Almeida

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

A De Paepe

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

language of work or name

0 references

publication date

1 July 2006

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

43

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

7

1 reference

Europe PubMed Central

PMC publication ID

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26 December 2019

e36

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564565

25 May 2018

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16816023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical heterogeneity of osteogenesis imperfecta: New variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/16816023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/16816023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro alpha 2 chain of type I procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/16816023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Existence of malfunctioning pro alpha2(I) collagen genes in a patient with a pro alpha 2(I)-chain-defective variant of Ehlers-Danlos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16816023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16816023

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.038224

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16816023%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

ResearchGate publication ID

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