Conotruncal heart malformations

De Luca A et al. (2011) New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

Ta-Shma A et al. (2014) Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

Ta-Shma A et al. (2013) Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

Tan ZP et al. (2012) Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle.

Obler D et al. (2008) Double outlet right ventricle: aetiologies and associations.

Karkera JD et al. (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

Heathcote K et al. (2005) Common arterial trunk associated with a homeodomain mutation of NKX2.6.

Yagi H et al. (2003) Role of TBX1 in human del22q11.2 syndrome.

Goldmuntz E et al. (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

Saitta SC et al. (1999) A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

Matsuoka R et al. (1998) Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.

Devriendt K et al. (1996) The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.

Takahashi K et al. (1995) Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.

Debrus S et al. (1996) Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.

Patterson DF et al. (1993) A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs.

Rein AJ et al. (1994) Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance.

Matsuoka R et al. (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Pierpont ME et al. (1988) Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch.

le Marec B et al. (1989) [Truncus arteriosus: an autosomal recessive disease?].

Rein AJ et al. (1990) Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.

Kodo K et al. (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

McElhinney DB et al. (2003) NKX2.5 mutations in patients with congenital heart disease.

Orphanet article

OMIM.ORG article