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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: molloy am. 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.
Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects.
Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Kirke PN, et al. Among authors: molloy am. Q J Med. 1993 Nov;86(11):703-8. Q J Med. 1993. PMID: 8265769
A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects.
Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DG, Shields DC, Scott JM. Whitehead AS, et al. Among authors: molloy am. QJM. 1995 Nov;88(11):763-6. QJM. 1995. PMID: 8542260
Homocysteine and neural tube defects.
Mills JL, Scott JM, Kirke PN, McPartlin JM, Conley MR, Weir DG, Molloy AM, Lee YJ. Mills JL, et al. Among authors: molloy am. J Nutr. 1996 Mar;126(3):756S-760S. doi: 10.1093/jn/126.suppl_3.756S. J Nutr. 1996. PMID: 8598561 Review.
Maternal folate status and risk of neural tube defects.
Kirke PN, Daly LE, Molloy A, Weir DG, Scott JM. Kirke PN, et al. Lancet. 1996 Jul 6;348(9019):67-8. doi: 10.1016/s0140-6736(05)64402-9. Lancet. 1996. PMID: 8691964 No abstract available.
Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.
Molloy AM, Mills JL, Kirke PN, Ramsbottom D, McPartlin JM, Burke H, Conley M, Whitehead AS, Weir DG, Scott JM. Molloy AM, et al. Am J Med Genet. 1998 Jun 30;78(2):155-9. Am J Med Genet. 1998. PMID: 9674907
The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother.
Shields DC, Kirke PN, Mills JL, Ramsbottom D, Molloy AM, Burke H, Weir DG, Scott JM, Whitehead AS. Shields DC, et al. Among authors: molloy am. Am J Hum Genet. 1999 Apr;64(4):1045-55. doi: 10.1086/302310. Am J Hum Genet. 1999. PMID: 10090889 Free PMC article.
Gene-gene interactions and neural tube defects.
Whitehead AS, Molloy AM, Ramsbottom D, Weir DG, Kirke PN, Mills JL, Gallagher PM, Scott JM. Whitehead AS, et al. Among authors: molloy am. Clin Genet. 1999 Feb;55(2):133-4. doi: 10.1034/j.1399-0004.1999.550213.x. Clin Genet. 1999. PMID: 10189094 No abstract available.
Methylenetetrahydrofolate reductase thermolabile variant and oral clefts.
Mills JL, Kirke PN, Molloy AM, Burke H, Conley MR, Lee YJ, Mayne PD, Weir DG, Scott JM. Mills JL, et al. Among authors: molloy am. Am J Med Genet. 1999 Sep 3;86(1):71-4. Am J Med Genet. 1999. PMID: 10440833
Methionine synthase: high-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects.
Brody LC, Baker PJ, Chines PS, Musick A, Molloy AM, Swanson DA, Kirke PN, Ghosh S, Scott JM, Mills JL. Brody LC, et al. Among authors: molloy am. Mol Genet Metab. 1999 Aug;67(4):324-33. doi: 10.1006/mgme.1999.2881. Mol Genet Metab. 1999. PMID: 10444343
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