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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: siegel dg. 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.
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: siegel dg. 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.
Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.
Deak KL, Dickerson ME, Linney E, Enterline DS, George TM, Melvin EC, Graham FL, Siegel DG, Hammock P, Mehltretter L, Bassuk AG, Kessler JA, Gilbert JR, Speer MC; NTD Collaborative Group. Deak KL, et al. Among authors: siegel dg. Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):868-75. doi: 10.1002/bdra.20183. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 16237707
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: siegel dg. 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: siegel dg. 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: siegel dg. 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
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
Rampersaud E, Bassuk AG, Enterline DS, George TM, Siegel DG, Melvin EC, Aben J, Allen J, Aylsworth A, Brei T, Bodurtha J, Buran C, Floyd LE, Hammock P, Iskandar B, Ito J, Kessler JA, Lasarsky N, Mack P, Mackey J, McLone D, Meeropol E, Mehltretter L, Mitchell LE, Oakes WJ, Nye JS, Powell C, Sawin K, Stevenson R, Walker M, West SG, Worley G, Gilbert JR, Speer MC. Rampersaud E, et al. Among authors: siegel dg. J Med Genet. 2005 Dec;42(12):940-6. doi: 10.1136/jmg.2005.031658. Epub 2005 Apr 14. J Med Genet. 2005. PMID: 15831595 Free PMC article.
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