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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. Among authors: kirke pn. 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.
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. Among authors: kirke pn. 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. Among authors: kirke pn. 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
Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
Pangilinan F, Geiler K, Dolle J, Troendle J, Swanson DA, Molloy AM, Sutton M, Conley M, Kirke PN, Scott JM, Mills JL, Brody LC. Pangilinan F, et al. Among authors: kirke pn. Am J Med Genet A. 2008 Oct 15;146A(20):2617-25. doi: 10.1002/ajmg.a.32504. Am J Med Genet A. 2008. PMID: 18798306 Free PMC article.
Analysis of the MTHFD1 promoter and risk of neural tube defects.
Carroll N, Pangilinan F, Molloy AM, Troendle J, Mills JL, Kirke PN, Brody LC, Scott JM, Parle-McDermott A. Carroll N, et al. Among authors: kirke pn. Hum Genet. 2009 Apr;125(3):247-56. doi: 10.1007/s00439-008-0616-3. Epub 2009 Jan 8. Hum Genet. 2009. PMID: 19130090 Free PMC article.
Uncoupling protein 2 polymorphisms as risk factors for NTDs.
Mitchell A, Pangilinan F, Van der Meer J, Molloy AM, Troendle J, Conley M, Kirke PN, Scott JM, Brody LC, Mills JL. Mitchell A, et al. Among authors: kirke pn. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):156-60. doi: 10.1002/bdra.20520. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19137581 Free PMC article.
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. Among authors: kirke pn. BMC Med Genet. 2012 Aug 2;13:62. doi: 10.1186/1471-2350-13-62. BMC Med Genet. 2012. PMID: 22856873 Free PMC article.
89 results