(Q41099916)

26 September 2017

1 reference

title

Developmental genetics of the heart (English)

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26 September 2017

1

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26 September 2017

2

Goodship J

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26 September 2017

1 June 1996

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Current Opinion in Genetics & Development

26 September 2017

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26 September 2017

6

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26 September 2017

322-325

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26 September 2017

3

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The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

26 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

DiGeorge syndrome: part of CATCH 22.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

DiGeorge syndrome and 22q11 rearrangements

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Multiple essential functions of neuregulin in development

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Requirement for neuregulin receptor erbB2 in neural and cardiac development

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Targeted disruption of the mouse transforming growth factor-beta 1 gene results in multifocal inflammatory disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Maternal rescue of transforming growth factor-beta 1 null mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Mice develop normally without tenascin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Reversal of left-right asymmetry: a situs inversus mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Cardiac malformation in neonatal mice lacking connexin43.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

Connexin43 mutations in sporadic and familial defects of laterality

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980009-8

7 January 2021

10.1016/S0959-437X(96)80009-8

Identifiers

DOI

1 reference

26 September 2017

1 reference

PubMed ID

8791511