Human neural tube defects: developmental biology, epidemiology, and genetics.

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Published in Neurotoxicol Teratol on March 05, 2005

Authors

Eric R Detrait1, Timothy M George, Heather C Etchevers, John R Gilbert, Michel Vekemans, Marcy C Speer

Author Affiliations

1: Hôpital Necker, Enfants Malades Unité INSERM U393, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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Treatment practices for Chiari malformation type I with syringomyelia: results of a survey of the American Society of Pediatric Neurosurgeons. J Neurosurg Pediatr (2011) 1.09

Relationship of cine phase-contrast magnetic resonance imaging with outcome after decompression for Chiari I malformations. Neurosurgery (2006) 1.07

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet (2005) 1.07

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. Am J Med Genet A (2006) 1.07

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One (2011) 1.06

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat (2011) 1.06

An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06

The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression. Am J Geriatr Psychiatry (2008) 1.04

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations. J Neurosurg Pediatr (2012) 1.04

Correlation of cerebrospinal fluid flow dynamics and headache in Chiari I malformation. Neurosurgery (2005) 1.03

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. Am J Med Genet A (2007) 1.03

Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia. Pediatr Res (2004) 1.02

OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet (2012) 1.02

Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression. Am J Geriatr Psychiatry (2007) 1.02

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res A Clin Mol Teratol (2008) 1.02

Joint effects of smoking history and APOE genotypes in age-related macular degeneration. Mol Vis (2005) 1.02

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease. Neurobiol Dis (2005) 1.02

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS One (2012) 1.01