[HTML][HTML] Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes

J Zou, F Wang, X Yang, H Wang, L Niswander… - Neural …, 2020 - Springer
Abstract Background Neural tube defects (NTDs) are failure of neural tube closure, which
includes multiple central nervous system phenotypes. More than 300 mouse mutant strains …

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 …

Exome analysis in an Estonian multiplex family with neural tube defects—a case report

L Pappa, M Kals, PA Kivistik, A Metspalu, A Paal… - Child's Nervous …, 2017 - Springer
Abstract Introduction Neural tube defects (NTDs) are a group of common and severe
congenital birth defects that occur during early embryonic development due to incomplete …

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

M Ishida, T Cullup, C Boustred, C James… - Clinical …, 2018 - Wiley Online Library
Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth,
whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap …

Loss-of-function de novo mutations play an important role in severe human neural tube defects

P Lemay, MC Guyot, É Tremblay… - Journal of medical …, 2015 - jmg.bmj.com
Background Neural tube defects (NTDs) are very common and severe birth defects that are
caused by failure of neural tube closure and that have a complex aetiology. Anencephaly …

[HTML][HTML] Neural tube defects: A need for population-based prevention program

S Phadke, M Agarwal - Indian Journal of Human Genetics, 2012 - ncbi.nlm.nih.gov
Editorial through spinal defect and histopathological findings.[2] Majority of NTDs are
isolated/non-syndromic and are not associated with other congenital malformations …

Identification of new candidate genes for spina bifida through exome sequencing

A Azzarà, C Rendeli, AM Crivello, F Brugnoletti… - Child's Nervous …, 2021 - Springer
Purpose Neural tube defects are a group of birth defects caused by failure of neural tube
closure during development. The etiology of NTD, requiring a complex interaction between …

Genetic, epigenetic, and environmental contributions to neural tube closure

JJ Wilde, JR Petersen, L Niswander - Annual review of genetics, 2014 - annualreviews.org
The formation of the embryonic brain and spinal cord begins as the neural plate bends to
form the neural folds, which meet and adhere to close the neural tube. The neural ectoderm …

The search for genetic determinants of human neural tube defects

P Wolujewicz, ME Ross - Current opinion in pediatrics, 2019 - journals.lww.com
The search for genetic determinants of human neural tube def... : Current Opinion in
Pediatrics The search for genetic determinants of human neural tube defects : Current …

[HTML][HTML] Insights into the etiology of mammalian neural tube closure defects from developmental, genetic and evolutionary studies

DM Juriloff, MJ Harris - Journal of developmental biology, 2018 - mdpi.com
The human neural tube defects (NTD), anencephaly, spina bifida and craniorachischisis,
originate from a failure of the embryonic neural tube to close. Human NTD are relatively …