Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population

TC Carter, F Pangilinan, JF Troendle… - American Journal of …, 2011 - Wiley Online Library
Individual studies of the genetics of neural tube defects (NTDs) contain results on a small
number of genes in each report. To identify genetic risk factors for NTDs, we evaluated …

Periconceptional risk factors of spina bifida among Egyptian population: a case–control study

A Maged, M Elsherbini, W Ramadan… - The Journal of …, 2016 - Taylor & Francis
Objective: To study the preconceptual & early conceptional risk factors predisposing to the
development of spina bifida (SB) among Egyptian population. Study design: The study …

Folate pathway gene single nucleotide polymorphisms and neural tube defects: a systematic review and meta-analysis

AK Almekkawi, MW AlJardali, HM Daadaa… - Journal of Personalized …, 2022 - mdpi.com
Neural tube defects (NTDs) are congenital abnormalities in the central nervous system. The
exact etiology of NTDs is still not determined, but several genetic and epigenetic factors …

Molecular genetic analysis of human folate receptors in neural tube defects

SG Heil, NMJ van der Put, FJM Trijbels… - European Journal of …, 1999 - nature.com
Neural tube defects (NTDs) are the most common congenital malformations and are
considered to have a multifactorial origin, having both genetic and environmental …

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

KS Au, L Hebert, P Hillman, C Baker, MR Brown… - Scientific reports, 2021 - nature.com
Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each
surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and …

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 …

Investigations of single nucleotide polymorphisms in folate pathway genes in Chinese families with neural tube defects

J Liu, J Qi, X Yu, J Zhu, L Zhang, Q Ning… - Journal of the Neurological …, 2014 - Elsevier
Aims We investigated the hypothesis that there are interactions between SNPs in folate
metabolism pathway genes and environmental risk factors to the etiology of neural tube …

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway

E Renard, C Chéry, A Oussalah, T Josse, P Perrin… - Human Genetics, 2019 - Springer
Neural tube defects (NTD) result from complex mechanisms between genes, nutrition and
environment. The identification of genetic predictors by genome exome sequencing and …

Molecular genetics involved in neural tube defects: recent advances and future prospective for molecular medicine

PR Mishra, M Barik, AK Mahapatra - Neurology India, 2020 - journals.lww.com
Background: Folic acid and multivitamin supplements ((FAMVS) and genetics involvement is
one of the major roles in the development of neural tube defects (NTDs). Objective: Our prior …

Fetal spina bifida associates with dysregulation in nutrient‐sensitive placental gene networks: Findings from a matched case–control study

M White, J Arif‐Pardy, T Van Mieghem… - Clinical and …, 2024 - Wiley Online Library
To improve outcomes in fetuses with spina bifida (SB), better understanding is needed of the
molecular drivers of SB and its comorbidities. Pregnant people carrying a fetus with isolated …