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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.
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. Am J Med Genet. 2002 Jan 15;107(2):151-5. doi: 10.1002/ajmg.10121. Am J Med Genet. 2002. PMID: 11807890
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. 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
47 results