(Q35199604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

title

Segregation of all four major fibrillar collagen genes in the Marfan syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

4

1 reference

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27 September 2019

author name string

Ogilvie DJ

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

Wordsworth BP

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

Priestley LM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

Schmidtke J

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

Zoll B

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

Sykes BC

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

language of work or name

English

0 references

publication date

1 December 1987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 September 2019

published in

1 reference

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27 September 2019

volume

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

page(s)

1071-1082

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

Marfan syndrome: abnormal alpha 2 chain in type I collagen

27 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Structurally Distinct Collagen Types

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

An RFLP associated with the human type III collagen gene (COL3A1).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Hypervariable 'minisatellite' regions in human DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

An RFLP close to the human collagen I gene COL1A1.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

Probable autosomal recessive Marfan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

The Marfan Syndrome: Diagnosis and Management

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684352

The Marfan Syndrome: A Deficiency in Chemically Stable Collagen Cross-Links

13 July 2018

1 reference

12 December 2020

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation

1 reference

12 December 2020

Osteogenesis imperfecta is linked to both type I collagen structural genes

1 reference

12 December 2020

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3479900%20AND%20SRC:MED&resulttype=core&format=json

27 September 2019

1 reference