Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh
G Tindula, B Issac, SK Mukherjee… - Birth Defects …, 2024 - Wiley Online Library
Background Human studies of genetic risk factors for neural tube defects, severe birth
defects associated with long‐term health consequences in surviving children, have …
defects associated with long‐term health consequences in surviving children, have …
Epidemiologic and genetic aspects of spina bifida and other neural tube defects
KS Au, A Ashley‐Koch… - Developmental disabilities …, 2010 - Wiley Online Library
The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000
births with almost equal frequencies between two major categories: anencephaly and spina …
births with almost equal frequencies between two major categories: anencephaly and spina …
Genomic approaches to the assessment of human spina bifida risk
Structural birth defects are a leading cause of mortality and morbidity in children world‐wide,
affecting as much as 6% of all live births. Among these conditions, neural tube defects …
affecting as much as 6% of all live births. Among these conditions, neural tube defects …
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 …
[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 …
frequency of neural tube defects (NTDs) in newborns, common variant association studies …
[HTML][HTML] Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
P Wolujewicz, V Aguiar-Pulido, A AbdelAleem… - Genetics in …, 2021 - nature.com
Purpose Next-generation sequencing has implicated some risk variants for human spina
bifida (SB), but the genome-wide contribution of structural variation to this complex genetic …
bifida (SB), but the genome-wide contribution of structural variation to this complex genetic …
Spina bifida subtypes and sub‐phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study
AJ Agopian, MA Canfield, RS Olney… - American Journal of …, 2012 - Wiley Online Library
Spina bifida refers to a collection of neural tube defects, including myelomeningocele,
meningocele, and myelocele (SBM), as well as lipomyelomeningocele and lipomeningocele …
meningocele, and myelocele (SBM), as well as lipomyelomeningocele and lipomeningocele …
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models
C Wang, S Seltzsam, B Zheng, CHW Wu… - American Journal of …, 2022 - Wiley Online Library
Spina bifida (SB) is the second most common nonlethal congenital malformation. The
existence of monogenic SB mouse models and human monogenic syndromes with SB …
existence of monogenic SB mouse models and human monogenic syndromes with SB …
[HTML][HTML] 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 …
[HTML][HTML] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
GM Shaw, W Lu, H Zhu, W Yang, FBS Briggs… - BMC medical …, 2009 - Springer
Background Folic acid taken in early pregnancy reduces risks for delivering offspring with
several congenital anomalies. The mechanism by which folic acid reduces risk is unknown …
several congenital anomalies. The mechanism by which folic acid reduces risk is unknown …