scholarly journals One-carbon metabolite levels in mid-pregnancy and risks of conotruncal heart defects

2014 ◽  
Vol 100 (2) ◽  
pp. 107-115 ◽  
Author(s):  
Gary M. Shaw ◽  
Wei Yang ◽  
Suzan L. Carmichael ◽  
Stein Emil Vollset ◽  
Charlotte A. Hobbs ◽  
...  
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects

Conotruncal heart defects and chromosome 22q11microdeletion

1997 ◽  
Vol 130 (4) ◽  
pp. 675-676 ◽  
Author(s):  
M.Cristina Digilio ◽  
Bruno Marino ◽  
Aldo Giannotti ◽  
Giuseppe Novelli ◽  
Bruno Dallapiccola
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects

scholarly journals Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects

2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
Philip J. Lupo ◽  
Elizabeth Goldmuntz ◽  
Laura E. Mitchell
Keyword(s):  
Risk Factors ◽  
Metabolic Pathway ◽  
Heart Defects ◽  
Independent Study ◽  
Gene Interactions ◽  
Genotype Combination ◽  
Conotruncal Heart Defects ◽  
Metabolic Genes ◽  
Functional Variants ◽  
Maternal Gene

Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent triads (n=727), ascertained from the Children's Hospital of Philadelphia, were genotyped for ten functional variants of nine folate metabolic genes. Analyses of inherited genotypes were consistent with the previously reported association betweenMTHFRA1298C and CTRD (adjustedP=.02), but provided no evidence that CTRD was associated with inherited gene-gene interactions. Analyses of the maternal genotypes provided evidence of aMTHFRC677T/CBS844ins68 interaction and CTRD risk (unadjustedP=.02). This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations.

Genetic variance of transforming growth factor β2 gene in conotruncal heart defects

Biomarkers ◽  
2016 ◽  
Vol 22 (3-4) ◽  
pp. 287-290 ◽  
Author(s):  
Yu Chen ◽  
Rui Zhang ◽  
Jun Xie ◽  
Yajiao Li ◽  
Shaoqing Shi ◽  
...  
Keyword(s):  
Growth Factor ◽  
Genetic Variance ◽  
Transforming Growth Factor ◽  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Transforming Growth Factor Β2

scholarly journals Investigation ofTBX1gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects: Table 1

Heart Asia ◽  
2013 ◽  
Vol 5 (1) ◽  
pp. 200-202 ◽  
Author(s):  
Hamid Ganji ◽  
Mansoor Salehi ◽  
Maryam Sedghi ◽  
Hossein Abdali ◽  
Nayereh Nouri ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects ◽  
Iranian Children

scholarly journals Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects

2014 ◽  
Vol 10 (2) ◽  
pp. 743-748 ◽  
Author(s):  
XIKE WANG ◽  
WEI JI ◽  
JIAN WANG ◽  
PENGJUN ZHAO ◽  
YING GUO ◽  
...  
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects

scholarly journals Brief communication. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects

1999 ◽  
Vol 90 (4) ◽  
pp. 494-497 ◽  
Author(s):  
P Werner ◽  
MG Raducha ◽  
U Prociuk ◽  
M Budarf ◽  
PS Henthorn ◽  
...  
Keyword(s):  
Comparative Mapping ◽  
Heart Defects ◽  
Conotruncal Heart Defects

scholarly journals Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

2020 ◽  
Vol 106 (1) ◽  
pp. 26-40 ◽  
Author(s):  
Yingjie Zhao ◽  
Alexander Diacou ◽  
H. Richard Johnston ◽  
Fadi I. Musfee ◽  
Donna M. McDonald-McGinn ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Complete Sequence ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conotruncal Heart Defects

scholarly journals Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects

PLoS ONE ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. e96057 ◽  
Author(s):  
A. J. Agopian ◽  
Laura E. Mitchell ◽  
Joseph Glessner ◽  
Angela D. Bhalla ◽  
Anshuman Sewda ◽  
...  
Keyword(s):  
Association Study ◽  
Genome Wide Association Study ◽  
Heart Defects ◽  
Genome Wide Association ◽  
Conotruncal Heart Defects ◽  
Genome Wide
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