(Q57983352)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome) (English)

1 reference

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19 October 2019

1 reference

3

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19 October 2019

author name string

G E Davies

1

1 reference

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19 October 2019

C M Howard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

M M Coleman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

L B Bennett

5

1 reference

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19 October 2019

L M Cullen

6

1 reference

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19 October 2019

R K Wyse

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

J Burn

8

1 reference

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19 October 2019

R Williamson

9

1 reference

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19 October 2019

A M Kessling

10

1 reference

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19 October 2019

language of work or name

English

0 references

publication date

1 July 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

published in

Annals of Human Genetics

1 reference

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19 October 2019

volume

59

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19 October 2019

page(s)

253-269

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19 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

Cell attachment properties of collagen type VI and Arg-Gly-Asp dependent binding to its alpha 2(VI) and alpha 3(VI) chains

19 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Dinucleotide repeat polymorphism located at D21S120.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Molecular composition of type VI collagen. Evidence for chain heterogeneity in mammalian tissues and cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Down syndrome phenotypes: the consequences of chromosomal imbalance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

A catalogue of genes in the cardiovascular system as identified by expressed sequence tags

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Dinucleotide repeat polymorphism at the D21S258 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

Functional Polymorphism in the Parental Imprinting of the Human IGF2R Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1995.TB00746.X

10.1111/J.1469-1809.1995.TB00746.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7486833%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference