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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: cox c. 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.
Folate-related genes and omphalocele.
Mills JL, Druschel CM, Pangilinan F, Pass K, Cox C, Seltzer RR, Conley MR, Brody LC. Mills JL, et al. Among authors: cox c. Am J Med Genet A. 2005 Jul 1;136(1):8-11. doi: 10.1002/ajmg.a.30772. Am J Med Genet A. 2005. PMID: 15937947
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: cox c. 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
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: cox c. 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: cox c. 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. Among authors: cox c. 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
A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.
Parle-McDermott A, Pangilinan F, Mills JL, Signore CC, Molloy AM, Cotter A, Conley M, Cox C, Kirke PN, Scott JM, Brody LC. Parle-McDermott A, et al. Among authors: cox c. Mol Hum Reprod. 2005 Jul;11(7):477-80. doi: 10.1093/molehr/gah204. Mol Hum Reprod. 2005. PMID: 16123074
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. Among authors: cox c. 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
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. Among authors: cox c. Mol Genet Metab. 2003 Dec;80(4):463-8. doi: 10.1016/j.ymgme.2003.09.009. Mol Genet Metab. 2003. PMID: 14654360
Analysis of the human folate receptor beta gene for an association with neural tube defects.
O'Leary VB, Mills JL, Kirke PN, Parle-McDermott A, Swanson DA, Weiler A, Pangilinan F, Conley M, Molloy AM, Lynch M, Cox C, Scott JM, Brody LC. O'Leary VB, et al. Among authors: cox c. Mol Genet Metab. 2003 Jun;79(2):129-33. doi: 10.1016/s1096-7192(03)00075-1. Mol Genet Metab. 2003. PMID: 12809644
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