[HTML][HTML] A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis

NJ Marini, TJ Hoffmann, EJ Lammer, J Hardin… - PLoS …, 2011 - journals.plos.org
Despite compelling epidemiological evidence that folic acid supplements reduce the
frequency of neural tube defects (NTDs) in newborns, common variant association studies …

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10

E Rampersaud, AG Bassuk, DS Enterline… - Journal of medical …, 2005 - jmg.bmj.com
Neural tube defects (NTDs) are the second most common birth defects (1 in 1000 live births)
in the world. Periconceptional maternal folate supplementation reduces NTD risk by 50 …

The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects

AM Molloy, LC Brody, JL Mills… - … Research Part A …, 2009 - Wiley Online Library
In this paper, we trace the history of current research into the genetic and biochemical
mechanisms that underlie folate‐preventable neural tube defects (NTDs). The inspired …

Finding the genetic mechanisms of folate deficiency and neural tube defects—Leaving no stone unturned

KS Au, TO Findley, H Northrup - American Journal of Medical …, 2017 - Wiley Online Library
Neural tube defects (NTDs) occur secondary to failed closure of the neural tube between the
third and fourth weeks of gestation. The worldwide incidence ranges from 0.3 to 200 per …

One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?

JW Steele, SE Kim, RH Finnell - Biochimie, 2020 - Elsevier
Neural tube defects (NTDs) are a broad class of congenital birth defects that result from the
failure of neural tube closure during neurulation. Folic acid supplementation has been …

Neural tube defects and folate pathway genes: family-based association tests of gene–gene and gene–environment interactions

AL Boyles, AV Billups, KL Deak… - Environmental …, 2006 - ehp.niehs.nih.gov
Background Folate metabolism pathway genes have been examined for association with
neural tube defects (NTDs) because folic acid supplementation reduces the risk of this …

[HTML][HTML] Folate-related gene variants in Irish families affected by neural tube defects

R Fisk Green, J Byrne, KS Crider, M Gallagher… - Frontiers in …, 2013 - frontiersin.org
Periconceptional folic acid use can often prevent neural tube defects (NTDs). Variants of
genes involved in folate metabolism in mothers and children have been associated with …

[HTML][HTML] Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects

F Pangilinan, AM Molloy, JL Mills, JF Troendle… - BMC medical …, 2014 - Springer
Abstract Background Neural tube defects (NTDs), which are among the most common
congenital malformations, are influenced by environmental and genetic factors. Low …

Genetic risk factors for folate-responsive neural tube defects

AM Molloy, F Pangilinan, LC Brody - Annual Review of Nutrition, 2017 - annualreviews.org
Neural tube defects (NTDs) are the most severe congenital malformations of the central
nervous system. The etiology is complex, with both genetic and environmental factors …

[PDF][PDF] Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects

K Doudney, J Grinham, J Whittaker… - American Journal of …, 2009 - theshinelibrary.org
Neural tube defects (NTDs) are among the commonest human birth defects, affecting around
1 per 1,000 births [Copp et al., 2003]. A genetic basis for NTDs is implicated based on the …