Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
… Neural tube defects (NTDs) are common birth defects (~1 in 1000 … origins, including
environmental and genetic factors. A low level … that variants in additional folate/B12 pathway …
environmental and genetic factors. A low level … that variants in additional folate/B12 pathway …
Genetic variation in genes of folate metabolism and neural-tube defect risk
… Other genetic variants reported in the present review are less likely to be associated with
NTD risk. More studies in sufficiently large populations are required to determine possible …
NTD risk. More studies in sufficiently large populations are required to determine possible …
Genetics of human neural tube defects
… ), suggesting that gene-dosage can affect neural tube closure. … mutation screening of candidate
genes has been carried out … of sequence variants in or near candidate genes. Most work …
genes has been carried out … of sequence variants in or near candidate genes. Most work …
Genetic basis of neural tube defects
AG Bassuk, Z Kibar - Seminars in pediatric neurology, 2009 - Elsevier
… Although genetic variants have been identified in folate-related genes that increase the risk
… genetic variation identified to date in these genes does not account for the overall genetic …
… genetic variation identified to date in these genes does not account for the overall genetic …
Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature
T Zhang, J Lou, R Zhong, J Wu, L Zou, Y Sun, X Lu… - PLos one, 2013 - journals.plos.org
Background Neural Tube Defects (NTDs) are among the most prevalent and most severe
congenital malformations worldwide. Polymorphisms in key genes involving the folate pathway …
congenital malformations worldwide. Polymorphisms in key genes involving the folate pathway …
Novel mutations in VANGL1 in neural tube defects
Z Kibar, CM Bosoi, M Kooistra, S Salem… - Human …, 2009 - Wiley Online Library
… gene VANGL1 associated with NTDs. The aim of the present study was to define the role
of VANGL1 genetic variants … We identified five novel missense variants in VANGL1, p.Ser83Leu…
of VANGL1 genetic variants … We identified five novel missense variants in VANGL1, p.Ser83Leu…
Toward understanding the genetic basis of neural tube defects
Z Kibar, V Capra, P Gros - Clinical genetics, 2007 - Wiley Online Library
… tube defects (NTDs) represent a common group of severe congenital malformations that
result from failure of neural tube … role of folate pathway gene variants and their interaction with …
result from failure of neural tube … role of folate pathway gene variants and their interaction with …
Gene–gene interaction in folate-related genes and risk of neural tube defects in a UK population
… it is possible that particular combinations of genetic variants may underlie NTD susceptibility.
… By virtue of this, it is likely that critical combinations of variant alleles will be responsible for …
… By virtue of this, it is likely that critical combinations of variant alleles will be responsible for …
FZD6 is a novel gene for human neural tube defects
… While we could not demonstrate a significant contribution of FZD3 gene, we identified five
rare FZD6 variants that were absent in all controls and predicted to have a functional effect by …
rare FZD6 variants that were absent in all controls and predicted to have a functional effect by …
Neural tube defects: recent advances, unsolved questions, and controversies
… Neural tube defects are severe congenital malformations affecting around one in every …
Genetic predisposition accounts for most of the risk of neural tube defects, and genes that …
Genetic predisposition accounts for most of the risk of neural tube defects, and genes that …
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