A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects

DM Juriloff, MJ Harris - Birth Defects Research Part A: Clinical …, 2012 - Wiley Online Library
A variety of human birth defects originate in failure of closure of the embryonic neural tube.
The genetic cause of the most common nonsyndromic defects, spina bifida (SB) or …

Spina bifida: pathogenesis, mechanisms, and genes in mice and humans

SW Mohd-Zin, AI Marwan, MK Abou Chaar… - …, 2017 - Wiley Online Library
Spina bifida is among the phenotypes of the larger condition known as neural tube defects
(NTDs). It is the most common central nervous system malformation compatible with life and …

Mutations in VANGL1 Associated with Neural-Tube Defects

Z Kibar, E Torban, JR McDearmid… - … England Journal of …, 2007 - Mass Medical Soc
Neural-tube defects such as anencephaly and spina bifida constitute a group of common
congenital malformations caused by complex genetic and environmental factors. We have …

Imaging in spine and spinal cord malformations

A Rossi, R Biancheri, A Cama, G Piatelli… - European journal of …, 2004 - Elsevier
Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise
from defects occurring in the early embryological stages of gastrulation (weeks 2–3), primary …

Prenatal diagnosis of open and closed spina bifida

T Ghi, G Pilu, P Falco, M Segata… - … in obstetrics & …, 2006 - Wiley Online Library
Objective To identify criteria useful for differentiating closed from open spina bifida
antenatally. Patients and methods A retrospective study of cases of spina bifida diagnosed …

A practical approach to diagnosis of spinal dysraphism

B Trapp, T de Andrade Lourenção Freddi… - Radiographics, 2021 - pubs.rsna.org
Spinal dysraphisms (SDs) are congenital malformations of the spinal cord, determined by
derangement in the complex cascade of embryologic events involved in spinal …

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

P De Marco, MG Calevo, A Moroni, L Arata… - Journal of human …, 2002 - nature.com
Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR)
gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians …

Junctional neurulation: a unique developmental program shaping a discrete region of the spinal cord highly susceptible to neural tube defects

A Dady, E Havis, V Escriou, M Catala… - Journal of …, 2014 - Soc Neuroscience
In higher vertebrates, the primordium of the nervous system, the neural tube, is shaped
along the rostrocaudal axis through two consecutive, radically different processes referred to …

Spinal lipomas: clinical spectrum, embryology, and treatment

MA Finn, ML Walker - Neurosurgical focus, 2007 - thejns.org
✓ Spinal lipomas, particularly lipomas of the conus medullaris and terminal filum, are the
most common form of occult spinal dysraphism and represent a wide spectrum of disease …

Congenital Spine and Spinal Cord Malformations—Pictorial Review

SL Rufener, M Ibrahim, CA Raybaud… - American Journal of …, 2010 - Am Roentgen Ray Soc
Objective Congenital abnormalities of the spine and spinal cord are referred to as spinal
dysraphisms. This article reviews normal embryological development of the spine and spinal …