(Q77359238)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746033%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746033%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

S J Kennedy

1

1 reference

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5 December 2019

A S Teebi

2

1 reference

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5 December 2019

I Adatia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746033%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

I Teshima

4

1 reference

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5 December 2019

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746033%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

5 December 2019

published in

1 reference

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5 December 2019

volume

104

1 reference

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5 December 2019

page(s)

79-80

1 reference

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5 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746033%20AND%20SRC:MED&resulttype=core&format=json

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011115%29104%3A1%3C79%3A%3AAID-AJMG1598%3E3.0.CO%3B2-T

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011115%29104%3A1%3C79%3A%3AAID-AJMG1598%3E3.0.CO%3B2-T

Distal 8p deletion (8p23.1----8pter): a common deletion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011115%29104%3A1%3C79%3A%3AAID-AJMG1598%3E3.0.CO%3B2-T

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011115%29104%3A1%3C79%3A%3AAID-AJMG1598%3E3.0.CO%3B2-T

Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011115%29104%3A1%3C79%3A%3AAID-AJMG1598%3E3.0.CO%3B2-T

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820011115%29104%3A1%3C79%3A%3AAID-AJMG1598%3E3.0.CO%3B2-T

10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746033%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference