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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.
Folic acid metabolism and mechanisms of neural tube defects.
Scott JM, Weir DG, Molloy A, McPartlin J, Daly L, Kirke P. Scott JM, et al. Ciba Found Symp. 1994;181:180-7; discussion 187-91. doi: 10.1002/9780470514559.ch11. Ciba Found Symp. 1994. PMID: 8005024 Review.
Choline and homocysteine interrelations in umbilical cord and maternal plasma at delivery.
Molloy AM, Mills JL, Cox C, Daly SF, Conley M, Brody LC, Kirke PN, Scott JM, Ueland PM. Molloy AM, et al. Among authors: kirke pn. Am J Clin Nutr. 2005 Oct;82(4):836-42. doi: 10.1093/ajcn/82.4.836. Am J Clin Nutr. 2005. PMID: 16210714
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
Mills JL, Molloy AM, Parle-McDermott A, Troendle JF, Brody LC, Conley MR, Cox C, Pangilinan F, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Kirke PN. Mills JL, et al. Among authors: kirke pn. Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):636-43. doi: 10.1002/bdra.20491. Birth Defects Res A Clin Mol Teratol. 2008. PMID: 18661527 Free PMC article.
Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects.
Mills JL, Fan R, Brody LC, Liu A, Ueland PM, Wang Y, Kirke PN, Shane B, Molloy AM. Mills JL, et al. Among authors: kirke pn. Am J Clin Nutr. 2014 Oct;100(4):1069-74. doi: 10.3945/ajcn.113.079319. Epub 2014 Aug 13. Am J Clin Nutr. 2014. PMID: 25240073 Free PMC article.
Maternal vitamin B12 status and risk of neural tube defects in a population with high neural tube defect prevalence and no folic Acid fortification.
Molloy AM, Kirke PN, Troendle JF, Burke H, Sutton M, Brody LC, Scott JM, Mills JL. Molloy AM, et al. Among authors: kirke pn. Pediatrics. 2009 Mar;123(3):917-23. doi: 10.1542/peds.2008-1173. Pediatrics. 2009. PMID: 19255021 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.
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. Among authors: kirke pn. 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. Among authors: kirke pn. 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. Among authors: kirke pn. 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
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