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Page 1
High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35.
Stamm DS, Rampersaud E, Slifer SH, Mehltretter L, Siegel DG, Xie J, Hu-Lince D, Craig DW, Stephan DA, George TM, Gilbert JR, Speer MC; NTD Collaborative Group. Stamm DS, et al. Among authors: speer mc. Birth Defects Res A Clin Mol Teratol. 2006 Jun;76(6):499-505. doi: 10.1002/bdra.20272. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16933213 Free PMC article.
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Boyles AL, Billups AV, Deak KL, Siegel DG, Mehltretter L, Slifer SH, Bassuk AG, Kessler JA, Reed MC, Nijhout HF, George TM, Enterline DS, Gilbert JR, Speer MC; NTD Collaborative Group. Boyles AL, et al. Among authors: speer mc. Environ Health Perspect. 2006 Oct;114(10):1547-52. doi: 10.1289/ehp.9166. Environ Health Perspect. 2006. PMID: 17035141 Free PMC article.
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.
Boyles AL, Enterline DS, Hammock PH, Siegel DG, Slifer SH, Mehltretter L, Gilbert JR, Hu-Lince D, Stephan D, Batzdorf U, Benzel E, Ellenbogen R, Green BA, Kula R, Menezes A, Mueller D, Oro' JJ, Iskandar BJ, George TM, Milhorat TH, Speer MC. Boyles AL, et al. Among authors: speer mc. Am J Med Genet A. 2006 Dec 15;140(24):2776-85. doi: 10.1002/ajmg.a.31546. Am J Med Genet A. 2006. PMID: 17103432
Refinement of 2q and 7p loci in a large multiplex NTD family.
Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC; NTD Collaborative Group. Stamm DS, et al. Among authors: speer mc. Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):441-52. doi: 10.1002/bdra.20462. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18452155
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).
Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG; National Birth Defects Prevention Study. Krupp DR, et al. Among authors: speer mc. Birth Defects Res A Clin Mol Teratol. 2012 Sep;94(9):683-92. doi: 10.1002/bdra.23040. Epub 2012 Jul 18. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22806986 Free PMC article.
TERC is not a major gene in human neural tube defects.
Benz LP, Swift FE, Graham FL, Enterline DS, Melvin EC, Hammock P, Gilbert JR, Speer MC, Bassuk AG, Kessler JA, George TM; NTD Collaborative Group. Benz LP, et al. Among authors: speer mc. Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):531-3. doi: 10.1002/bdra.20057. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 15329831
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Deak KL, Boyles AL, Etchevers HC, Melvin EC, Siegel DG, Graham FL, Slifer SH, Enterline DS, George TM, Vekemans M, McClay D, Bassuk AG, Kessler JA, Linney E, Gilbert JR, Speer MC. Deak KL, et al. Among authors: speer mc. Hum Genet. 2005 Jul;117(2-3):133-42. doi: 10.1007/s00439-005-1299-7. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883837 Free PMC article.
153 results