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 …
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 …
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
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 …
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 …
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 …
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
Abstract Background Neural tube defects (NTDs), which are among the most common
congenital malformations, are influenced by environmental and genetic factors. Low …
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
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 …
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 …
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 …
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 …
1000 births. They are caused by a failure of neural tube closure during development. Their …
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