Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

F Pangilinan, AM Molloy, JL Mills, JF Troendle… - BMC medical …, 2012 - Springer
… 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 …

Genetic variation in genes of folate metabolism and neural-tube defect risk

IJM van der Linden, LA Afman, SG Heil… - Proceedings of the …, 2006 - cambridge.org
… 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 …

Genetics of human neural tube defects

NDE Greene, P Stanier, AJ Copp - Human molecular genetics, 2009 - academic.oup.com
… ), 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 …

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 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 …

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…

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 …

Genegene interaction in folate-related genes and risk of neural tube defects in a UK population

CL Relton, CS Wilding, MS Pearce… - Journal of medical …, 2004 - jmg.bmj.com
… 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 …

FZD6 is a novel gene for human neural tube defects

P De Marco, E Merello, A Rossi, G Piatelli… - Human …, 2012 - Wiley Online Library
… 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 …

Neural tube defects: recent advances, unsolved questions, and controversies

AJ Copp, P Stanier, NDE Greene - The Lancet Neurology, 2013 - thelancet.com
… 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 …