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A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL, Molloy AM, O'Leary VB, Parle-McDermott A, Scott JM, Swanson DA. Brody LC, et al. Am J Hum Genet. 2002 Nov;71(5):1207-15. doi: 10.1086/344213. Epub 2002 Oct 16. Am J Hum Genet. 2002. PMID: 12384833 Free PMC article.
MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.
Parle-McDermott A, Mills JL, Kirke PN, Cox C, Signore CC, Kirke S, Molloy AM, O'Leary VB, Pangilinan FJ, O'Herlihy C, Brody LC, Scott JM. Parle-McDermott A, et al. Am J Med Genet A. 2005 Feb 1;132A(4):365-8. doi: 10.1002/ajmg.a.30354. Am J Med Genet A. 2005. PMID: 15633187
Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.
Swanson DA, Pangilinan F, Mills JL, Kirke PN, Conley M, Weiler A, Frey T, Parle-McDermott A, O'Leary VB, Seltzer RR, Moynihan KA, Molloy AM, Burke H, Scott JM, Brody LC. Swanson DA, et al. Birth Defects Res A Clin Mol Teratol. 2005 Apr;73(4):239-44. doi: 10.1002/bdra.20122. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 15782407
Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.
O'Leary VB, Mills JL, Pangilinan F, Kirke PN, Cox C, Conley M, Weiler A, Peng K, Shane B, Scott JM, Parle-McDermott A, Molloy AM, Brody LC; Members of the Birth Defects Research Group. O'Leary VB, et al. Mol Genet Metab. 2005 Jul;85(3):220-7. doi: 10.1016/j.ymgme.2005.02.003. Epub 2005 Mar 17. Mol Genet Metab. 2005. PMID: 15979034
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.
Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Signore C, O'Leary VB, Chines P, Seay JM, Geiler-Samerotte K, Mitchell A, VanderMeer JE, Krebs KM, Sanchez A, Cornman-Homonoff J, Stone N, Conley M, Kirke PN, Shane B, Scott JM, Brody LC. Pangilinan F, et al. BMC Med Genet. 2012 Aug 2;13:62. doi: 10.1186/1471-2350-13-62. BMC Med Genet. 2012. PMID: 22856873 Free PMC article.
The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population.
Parle-McDermott A, Pangilinan F, Mills JL, Kirke PN, Gibney ER, Troendle J, O'Leary VB, Molloy AM, Conley M, Scott JM, Brody LC. Parle-McDermott A, et al. Am J Med Genet A. 2007 Jun 1;143A(11):1174-80. doi: 10.1002/ajmg.a.31725. Am J Med Genet A. 2007. PMID: 17486595
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
Parle-McDermott A, Kirke PN, Mills JL, Molloy AM, Cox C, O'Leary VB, Pangilinan F, Conley M, Cleary L, Brody LC, Scott JM. Parle-McDermott A, et al. Eur J Hum Genet. 2006 Jun;14(6):768-72. doi: 10.1038/sj.ejhg.5201603. Eur J Hum Genet. 2006. PMID: 16552426
Reduced folate carrier polymorphisms and neural tube defect risk.
O'leary VB, Pangilinan F, Cox C, Parle-McDermott A, Conley M, Molloy AM, Kirke PN, Mills JL, Brody LC, Scott JM; Members of the Birth Defects Research Group. O'leary VB, et al. Mol Genet Metab. 2006 Apr;87(4):364-9. doi: 10.1016/j.ymgme.2005.09.024. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343969
Screening for new MTHFR polymorphisms and NTD risk.
O'Leary VB, Mills JL, Parle-McDermott A, Pangilinan F, Molloy AM, Cox C, Weiler A, Conley M, Kirke PN, Scott JM, Brody LC; Birth Defects Research Group. O'Leary VB, et al. Am J Med Genet A. 2005 Oct 1;138A(2):99-106. doi: 10.1002/ajmg.a.30846. Am J Med Genet A. 2005. PMID: 16145688
Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.
Parle-McDermott A, McManus EJ, Mills JL, O'Leary VB, Pangilinan F, Cox C, Weiler A, Molloy AM, Conley M, Watson D, Scott JM, Brody LC, Kirke PN; Birth Defects Research Group. Parle-McDermott A, et al. Mol Genet Metab. 2003 Dec;80(4):463-8. doi: 10.1016/j.ymgme.2003.09.009. Mol Genet Metab. 2003. PMID: 14654360
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