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 …

High‐density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21. 1–pter and 2q33. 1–q35

DS Stamm, E Rampersaud, SH Slifer… - … Research Part A …, 2006 - Wiley Online Library
BACKGROUND: Neural tube defects (NTDs) are considered complex, with both genetic and
environmental factors implicated. To date, no major causative genes have been identified in …

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
Abstract Background Neural tube defects (NTDs) are common birth defects (~ 1 in 1000
pregnancies in the US and Europe) that have complex origins, including environmental and …

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 …

[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 …

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 …

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 …

Genetic epidemiology of neural tube defects

PJ Lupo, AJ Agopian, H Castillo… - Journal of pediatric …, 2017 - content.iospress.com
It has been estimated that 60–70% of neural tube defects (NTDs) have a genetic component,
but few causative genes have been identified. The lack of information on genes associated …

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 …

Whole exome sequencing identifies novel predisposing genes in neural tube defects

P Lemay, P De Marco, M Traverso… - Molecular genetics & …, 2019 - Wiley Online Library
Background Neural tube defects (NTD) are among the most common defects affecting 1:
1000 births. They are caused by a failure of neural tube closure during development. Their …