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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
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.
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
Candidate gene analysis in human neural tube defects.
Boyles AL, Hammock P, Speer MC. Boyles AL, et al. Among authors: speer mc. Am J Med Genet C Semin Med Genet. 2005 May 15;135C(1):9-23. doi: 10.1002/ajmg.c.30048. Am J Med Genet C Semin Med Genet. 2005. PMID: 15816061 Review.
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: speer mc. 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.
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.
153 results