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 …

Aberrant Pax1 and Pax9 expression in Jarcho‐Levin syndrome: Report of two Caucasian siblings and literature review

SI Bannykh, SC Emery, JK Gerber… - American Journal of …, 2003 - Wiley Online Library
We report two consecutive Caucasian male siblings of nonconsanguineous parents
autopsied at 22 and 13 weeks gestational age both with prenatal diagnosis of Jarcho‐Levin …

A diagnostic approach for the evaluation of spina bifida by three‐dimensional ultrasonography

W Lee, T Chaiworapongsa, R Romero… - Journal of ultrasound …, 2002 - Wiley Online Library
Objective. To describe a prenatal diagnostic method for evaluating spina bifida by three‐
dimensional ultrasonography. Methods. Two‐and three‐dimensional ultrasonography were …

Syndromes, disorders and maternal risk factors associated with neural tube defects (I)

CP Chen - Taiwanese Journal of Obstetrics and Gynecology, 2008 - Elsevier
Fetuses with neural tube defects (NTDs) maybe associated with syndromes, disorders, and
maternal risk factors. This article provides a comprehensive review of syndromes, disorders …

Mouse as a model for multifactorial inheritance of neural tube defects

IE Zohn - Birth Defects Research Part C: Embryo Today …, 2012 - Wiley Online Library
Neural tube defects (NTDs) such as spina bifida and anencephaly are some of the most
common structural birth defects found in humans. These defects occur due to failures of …

Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review

ME Vázquez-López, MI López-Conde… - Joint Bone Spine, 2005 - Elsevier
Jarcho Levin syndrome is a congenital disorder characterized by the presence of rib and
vertebral defects at birth. This syndrome is usually diagnosed in newborns with short neck …

Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis

B Dane, C Dane, F Aksoy, A Cetin… - Fetal diagnosis and …, 2007 - karger.com
Jarcho-Levin syndrome (JLS) causes severe vertebral and thoracic deformity and has an
autosomal-recessive mode of inheritance. Prenatal diagnosis may be difficult in some cases …

Methylmercury induced toxicogenomic response in C57 and SWV mouse embryos undergoing neural tube closure

JF Robinson, WC Griffith, X Yu, S Hong, E Kim… - Reproductive …, 2010 - Elsevier
Methylmercury (MeHg) is a developmental neurotoxicant and teratogen and is hypothesized
to perturb a wide range of biological processes, like other metals including arsenic (As) and …

Spinal lipomas

M Zerah, T Roujeau, M Catala, A Pierre-Kahn - The Spina Bifida, 2008 - Springer
Congenital lumbosacral lipomas are the most common form of closed neural tube defects. In
most cases they are diagnosed prenatally or at birth. They may lead to progressive …

Influence of birth mode on early neurological outcome in infants with myelomeningocele

I Cuppen, AJ Eggink, FK Lotgering, JJ Rotteveel… - European Journal of …, 2011 - Elsevier
OBJECTIVE: The aim of the study was to determine whether route of birth affects early
neurological outcome in infants with myelomeningocele. STUDY DESIGN: In a retrospective …