(Q35060430)

6 August 2017

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title

The genetics of congenital heart disease (English)

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6 August 2017

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1

Paul D Grossfeld

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6 August 2017

publication date

1 January 2003

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Journal of Nuclear Cardiology

6 August 2017

published in

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6 August 2017

volume

10

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6 August 2017

issue

1

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6 August 2017

page(s)

71-76

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

6 August 2017

cites work

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12 December 2020

CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle

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12 December 2020

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

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12 December 2020

Co-localisation, heterophilic interactions and regulated expression of IgLON family proteins in the chick nervous system

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12 December 2020

Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

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12 December 2020

Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome

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12 December 2020

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

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12 December 2020

Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).

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12 December 2020

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

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12 December 2020

Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis

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12 December 2020

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

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12 December 2020

Differential expression and functional analysis of Pitx2 isoforms in regulation of heart looping in the chick

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12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

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12 December 2020

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

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12 December 2020

Ventricular muscle-restricted targeting of the RXRalpha gene reveals a non-cell-autonomous requirement in cardiac chamber morphogenesis

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12 December 2020

Down syndrome congenital heart disease: a narrowed region and a candidate gene

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12 December 2020

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

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12 December 2020

Congenital heart disease caused by mutations in the transcription factor NKX2-5

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12 December 2020

NKX2.5 mutations in patients with tetralogy of fallot

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12 December 2020

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

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12 December 2020

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

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12 December 2020

X-linked situs abnormalities result from mutations in ZIC3

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12 December 2020

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

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12 December 2020

Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene

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12 December 2020

The EGF-CFC gene family in vertebrate development.

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12 December 2020

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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12 December 2020

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

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12 December 2020

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

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12 December 2020

Identifiers

DOI

10.1067/MNC.2003.129294

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Dimensions Publication ID

6 August 2017

1046541659

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