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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: scott jm. 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.
Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes.
Stone N, Pangilinan F, Molloy AM, Shane B, Scott JM, Ueland PM, Mills JL, Kirke PN, Sethupathy P, Brody LC. Stone N, et al. Among authors: scott jm. PLoS One. 2011;6(7):e21851. doi: 10.1371/journal.pone.0021851. Epub 2011 Jul 12. PLoS One. 2011. PMID: 21765920 Free PMC article.
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
Carter TC, Pangilinan F, Troendle JF, Molloy AM, VanderMeer J, Mitchell A, Kirke PN, Conley MR, Shane B, Scott JM, Brody LC, Mills JL. Carter TC, et al. Among authors: scott jm. Am J Med Genet A. 2011 Jan;155A(1):14-21. doi: 10.1002/ajmg.a.33755. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204206 Free PMC article.
Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland.
Minguzzi S, Molloy AM, Peadar K, Mills J, Scott JM, Troendle J, Pangilinan F, Brody L, Parle-McDermott A. Minguzzi S, et al. Among authors: scott jm. BMC Med Genet. 2012 Apr 20;13:29. doi: 10.1186/1471-2350-13-29. BMC Med Genet. 2012. PMID: 22520921 Free PMC article.
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: scott jm. 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.
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: scott jm. 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
MTRR and MTHFR polymorphism: link to Down syndrome?
O'Leary VB, Parle-McDermott A, Molloy AM, Kirke PN, Johnson Z, Conley M, Scott JM, Mills JL. O'Leary VB, et al. Among authors: scott jm. Am J Med Genet. 2002 Jan 15;107(2):151-5. doi: 10.1002/ajmg.10121. Am J Med Genet. 2002. PMID: 11807890
Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.
Carter TC, Molloy AM, Pangilinan F, Troendle JF, Kirke PN, Conley MR, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Brody LC, Mills JL. Carter TC, et al. Among authors: scott jm. Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):84-93. doi: 10.1002/bdra.20639. Birth Defects Res A Clin Mol Teratol. 2010. PMID: 19937600 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: scott jm. 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.
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: scott jm. Mol Hum Reprod. 2005 Jul;11(7):477-80. doi: 10.1093/molehr/gah204. Mol Hum Reprod. 2005. PMID: 16123074
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