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148 results

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Page 1
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: stephan da. 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
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: stephan da. 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.
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. 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
A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region.
Carpten JD, Makalowska I, Robbins CM, Scott N, Sood R, Connors TD, Bonner TI, Smith JR, Faruque MU, Stephan DA, Pinkett H, Morgenbesser SD, Su K, Graham C, Gregory SG, Williams H, McDonald L, Baxevanis AD, Klingler KW, Landes GM, Trent JM. Carpten JD, et al. Among authors: stephan da. Genomics. 2000 Feb 15;64(1):1-14. doi: 10.1006/geno.1999.6051. Genomics. 2000. PMID: 10708513
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.
Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, Zismann VL, Beach TG, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Walker DG, Ravid R, Heward CB, Rogers J, Papassotiropoulos A, Reiman EM, Hardy J, Stephan DA. Coon KD, et al. Among authors: stephan da. J Clin Psychiatry. 2007 Apr;68(4):613-8. doi: 10.4088/jcp.v68n0419. J Clin Psychiatry. 2007. PMID: 17474819
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.
Melquist S, Craig DW, Huentelman MJ, Crook R, Pearson JV, Baker M, Zismann VL, Gass J, Adamson J, Szelinger S, Corneveaux J, Cannon A, Coon KD, Lincoln S, Adler C, Tuite P, Calne DB, Bigio EH, Uitti RJ, Wszolek ZK, Golbe LI, Caselli RJ, Graff-Radford N, Litvan I, Farrer MJ, Dickson DW, Hutton M, Stephan DA. Melquist S, et al. Among authors: stephan da. Am J Hum Genet. 2007 Apr;80(4):769-78. doi: 10.1086/513320. Epub 2007 Mar 8. Am J Hum Genet. 2007. PMID: 17357082 Free PMC article.
Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus.
Kainu T, Juo SH, Desper R, Schaffer AA, Gillanders E, Rozenblum E, Freas-Lutz D, Weaver D, Stephan D, Bailey-Wilson J, Kallioniemi OP, Tirkkonen M, Syrjäkoski K, Kuukasjärvi T, Koivisto P, Karhu R, Holli K, Arason A, Johannesdottir G, Bergthorsson JT, Johannsdottir H, Egilsson V, Barkardottir RB, Johannsson O, Haraldsson K, Sandberg T, Holmberg E, Grönberg H, Olsson H, Borg A, Vehmanen P, Eerola H, Heikkila P, Pyrhönen S, Nevanlinna H. Kainu T, et al. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9603-8. doi: 10.1073/pnas.97.17.9603. Proc Natl Acad Sci U S A. 2000. PMID: 10944226 Free PMC article.
148 results