Skip to search formSkip to main contentSkip to account menu

Conotruncal defect

Known as: Conotruncal defects, Conotruncal heart defects 
A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the… 
National Institutes of Health

Related topics

Related topics

2 relations
Kleefstra SyndromeRecombinant chromosome 8 syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways.
BACKGROUND We investigated the association between conotruncal heart defects (CTDs) and maternal and fetal single nucleotide… 
2014
2014
Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development… 
2009
2009
Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring.
Most studies of the relationship between maternal residential proximity to sources of environmental pollution and congenital… 
2009
2009
The role of the N-methyl-D-aspartate receptor in heart development: A gene knockdown model using siRNA
Review
2008
Review
2008
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.
Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other… 
Highly Cited
2004
Highly Cited
2004
Developmental consequences of abnormal folate transport during murine heart morphogenesis.
BACKGROUND Folic acid is essential for the synthesis of nucleotides and methyl transfer reactions. Folic acid-binding protein one… 
1997
1997
CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
DiGeorge anomaly (DGA) and velocardiofacial syndrome (VCFS) are frequently associated with monosomy of chromosomal subband 22q11… 
Highly Cited
1996
Highly Cited
1996
Pax 3 is required for cardiac neural crest migration in the mouse : evidence from the splotch ( Sp 2 H ) mutant
Neural crest cells originating in the occipital region of the avian embryo are known to play a vital role in formation of the… 
1985
1985
Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).
Kousseff [1984] reported on three sibs with an autosomal recessive syndrome of sacral meningocele, conotruncal heart defects, and… 
1984
1984
Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait.
Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)