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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.
An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.
Minguzzi S, Selcuklu SD, Spillane C, Parle-McDermott A. Minguzzi S, et al. Among authors: parle mcdermott a. Hum Mutat. 2014 Jan;35(1):96-104. doi: 10.1002/humu.22459. Hum Mutat. 2014. PMID: 24123340
The Dihydrofolate Reductase 19 bp Polymorphism Is Not Associated with Biomarkers of Folate Status in Healthy Young Adults, Irrespective of Folic Acid Intake.
Ozaki M, Molloy AM, Mills JL, Fan R, Wang Y, Gibney ER, Shane B, Brody LC, Parle-McDermott A. Ozaki M, et al. Among authors: parle mcdermott a. J Nutr. 2015 Oct;145(10):2207-11. doi: 10.3945/jn.115.216101. Epub 2015 Aug 12. J Nutr. 2015. PMID: 26269242 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: parle mcdermott a. BMC Med Genet. 2012 Aug 2;13:62. doi: 10.1186/1471-2350-13-62. BMC Med Genet. 2012. PMID: 22856873 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. 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.
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
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Kay DM, Browne ML, McGrath EC, Abaan HO, Sutton M, Kirke PN, Caggana M, Shane B, Scott JM, Brody LC. Pangilinan F, et al. Among authors: parle mcdermott a. BMC Med Genet. 2014 Oct 8;15:102. doi: 10.1186/s12881-014-0102-9. BMC Med Genet. 2014. PMID: 25293959 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: parle mcdermott a. BMC Med Genet. 2012 Apr 20;13:29. doi: 10.1186/1471-2350-13-29. BMC Med Genet. 2012. PMID: 22520921 Free PMC article.
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.
Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC. Parle-McDermott A, et al. Hum Mutat. 2009 Dec;30(12):1650-6. doi: 10.1002/humu.21109. Hum Mutat. 2009. PMID: 19777576 Free PMC article.
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