|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect.
|
21183151 |
2011 |
|
rs1045642
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Increased risk for congenital heart defects in children carrying the ABCB1 Gene C3435T polymorphism and maternal periconceptional toxicants exposure.
|
23874772 |
2013 |
|
rs104894073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, the Gata4 G295S mutation functions as a hypomorph in vivo and leads to defects in cardiomyocyte proliferation during embryogenesis, which may contribute to the development of congenital heart defects in humans.
|
22589735 |
2012 |
|
rs104894378
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused significant cardiac malformations but only minor skeletal abnormalities; and Arg237Gln and Arg237Trp caused extensive upper limb malformations but less significant cardiac abnormalities.
|
10077612 |
1999 |
|
rs104894381
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused significant cardiac malformations but only minor skeletal abnormalities; and Arg237Gln and Arg237Trp caused extensive upper limb malformations but less significant cardiac abnormalities.
|
10077612 |
1999 |
|
rs104894382
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, missense mutations produced distinct phenotypes: Gly80Arg caused significant cardiac malformations but only minor skeletal abnormalities; and Arg237Gln and Arg237Trp caused extensive upper limb malformations but less significant cardiac abnormalities.
|
10077612 |
1999 |
|
rs1057518422
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.
|
29700987 |
2018 |
|
rs114878910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All the heterozygous neonatal Nkx2-5(+/R52G) mice demonstrated a prominent trabecular layer in the ventricular wall, so called noncompaction, along with diverse cardiac anomalies, including atrioventricular septal defects, Ebstein malformation of the tricuspid valve, and perimembranous and muscular ventricular septal defects.
|
25028484 |
2014 |
|
rs11752813
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphism in infant genes in the folate (MTHFS rs12438477), homocysteine (TRDMT1 rs6602178 and GNMT rs11752813) and transsulfuration (GSTP1 rs7941395 and MGST1 rs7294985) pathways were also associated with an increased risk of congenital heart defects.<b>Conclusions</b> Common maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways are associated with an increased risk of certain congenital heart defects among children of women taking SSRIs during cardiogenesis.
|
28264803 |
2017 |
|
rs1176869
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
|
28468790 |
2017 |
|
rs11895588
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
|
28468790 |
2017 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism.
|
17510921 |
2007 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This article is to investigate the association between C677T polymorphism of 5, 10-methylenetetrahydrofolate (MTHFR) gene and congenital heart defects (CHD).
|
30334422 |
2019 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene.
|
22660520 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects.
|
22175539 |
2012 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Fifty percent of these isolated congenital cardiac defects were associated with either the C677T MTHFR mutation or elevated amniotic fluid homocysteine levels, or both.
|
11303187 |
2001 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects.
|
24566197 |
2014 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
|
19725133 |
2009 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Maternal MTHFR C677T polymorphism and congenital heart defect risk in the Chinese Han population: a meta-analysis.
|
24338416 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis.
|
17965089 |
2007 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies.
|
23536781 |
2013 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To observe the association of MTHFR gene C677T locus polymorphism with occurrence of congenital heart defects (CHDs), 21 patients with atrial septal defect (ASD), 35 patients with patent ductus arteriosus (PDA), one patient with both conditions combined, and their biological parents were collected as the case group.
|
16373366 |
2006 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation.
|
16524890 |
2006 |
|
rs1217691063
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study was undertaken to investigate the association between congenital heart defects (CHD), and maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism.
|
16389035 |
2006 |
|
rs121912594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to increased PAP following surgical repair of congenital cardiac defects in children.
|
17188582 |
2007 |