Fallot-Tetralogie

Benson DW et al. (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

None (1974) Tetralogy of Fallot with right aortic arch in three successive generations.

Jones MC et al. (1985) An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot.

Pankau R et al. (1990) Tetralogy of Fallot in three sibs.

Pacileo G et al. (1992) Tetralogy of Fallot in three siblings: a familial study and review of the literature.

Soemedi R et al. (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Greenway SC et al. (2009) De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

Zhang W et al. () GATA4 mutations in 486 Chinese patients with congenital heart disease.

Tomita-Mitchell A et al. (2007) GATA4 sequence variants in patients with congenital heart disease.

Lambrechts D et al. (2005) Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study.

Pizzuti A et al. (2003) Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.

None (1962) A family study of Fallot's tetrad.

Eldadah ZA et al. (2001) Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

Johnson MC et al. (1997) Chromosome abnormalities in congenital heart disease.

Digilio MC et al. (1997) Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

Hirt-Armon K et al. (1996) Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome.

Boon AR et al. (1972) A family study of Fallot's tetralogy.

Lin X et al. (2010) A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

Maitra M et al. (2010) Identification of GATA6 sequence variants in patients with congenital heart defects.

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

Rauch R et al. (2010) Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Goldmuntz E et al. (2001) NKX2.5 mutations in patients with tetralogy of fallot.

Peng T et al. (2010) Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

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Orphanet article

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