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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: mills jl. 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.
Effects of recent research on recommendations for periconceptional folate supplement use.
Mills JL, Raymond E. Mills JL, et al. Ann N Y Acad Sci. 1993 Mar 15;678:137-45. doi: 10.1111/j.1749-6632.1993.tb26116.x. Ann N Y Acad Sci. 1993. PMID: 8494256 Review. No abstract available.
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: mills jl. Am J Med Genet. 2002 Jan 15;107(2):151-5. doi: 10.1002/ajmg.10121. Am J Med Genet. 2002. PMID: 11807890
Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.
Parle-McDermott A, Mills JL, Kirke PN, O'Leary VB, Swanson DA, Pangilinan F, Conley M, Molloy AM, Cox C, Scott JM, Brody LC. Parle-McDermott A, et al. Among authors: mills jl. J Hum Genet. 2003;48(4):190-3. doi: 10.1007/s10038-003-0008-4. Epub 2003 Mar 5. J Hum Genet. 2003. PMID: 12730722
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: mills jl. Mol Genet Metab. 2003 Jun;79(2):129-33. doi: 10.1016/s1096-7192(03)00075-1. Mol Genet Metab. 2003. PMID: 12809644
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: mills jl. Mol Genet Metab. 2003 Dec;80(4):463-8. doi: 10.1016/j.ymgme.2003.09.009. Mol Genet Metab. 2003. PMID: 14654360
Neural tube defect rates before and after food fortification with folic acid.
Mills JL, Signore C. Mills JL, et al. Birth Defects Res A Clin Mol Teratol. 2004 Nov;70(11):844-5. doi: 10.1002/bdra.20075. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 15468072 Review.
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: mills jl. 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
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: mills jl. 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
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. 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
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