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Results: 1 to 20 of 139

1.

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.

De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V.

J Hum Genet. 2006;51(2):98-103. Epub 2005 Nov 29.

PMID:
16315005
[PubMed - indexed for MEDLINE]
2.

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.

Am J Hum Genet. 2002 Nov;71(5):1207-15. Epub 2002 Oct 16.

PMID:
12384833
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.

Parle-McDermott A, Kirke PN, Mills JL, Molloy AM, Cox C, O'Leary VB, Pangilinan F, Conley M, Cleary L, Brody LC, Scott JM.

Eur J Hum Genet. 2006 Jun;14(6):768-72.

PMID:
16552426
[PubMed - indexed for MEDLINE]
Free Article
4.

Reduced folate carrier polymorphism (80A-->G) and neural tube defects.

De Marco P, Calevo MG, Moroni A, Merello E, Raso A, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V.

Eur J Hum Genet. 2003 Mar;11(3):245-52.

PMID:
12673279
[PubMed - indexed for MEDLINE]
Free Article
5.

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.

Christensen KE, Rohlicek CV, Andelfinger GU, Michaud J, Bigras JL, Richter A, Mackenzie RE, Rozen R.

Hum Mutat. 2009 Feb;30(2):212-20. doi: 10.1002/humu.20830.

PMID:
18767138
[PubMed - indexed for MEDLINE]
6.

MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia.

Kempisty B, Sikora J, Lianeri M, Szczepankiewicz A, Czerski P, Hauser J, Jagodzinski PP.

Psychiatr Genet. 2007 Jun;17(3):177-81.

PMID:
17417062
[PubMed - indexed for MEDLINE]
7.

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom.

Wilding CS, Relton CL, Sutton MJ, Jonas PA, Lynch SA, Tawn EJ, Burn J.

Birth Defects Res A Clin Mol Teratol. 2004 Jul;70(7):483-5.

PMID:
15259039
[PubMed - indexed for MEDLINE]
8.

Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.

Relton CL, Wilding CS, Pearce MS, Laffling AJ, Jonas PA, Lynch SA, Tawn EJ, Burn J.

J Med Genet. 2004 Apr;41(4):256-60.

PMID:
15060097
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer.

Kruszyna Ł, Lianeri M, Rydzanicz M, Gajecka M, Szyfter K, Jagodziński PP.

Mol Biol Rep. 2010 Jan;37(1):241-7. doi: 10.1007/s11033-009-9643-y. Epub 2009 Aug 1.

PMID:
19649727
[PubMed - indexed for MEDLINE]
10.

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.

Mol Genet Metab. 2003 Jun;79(2):129-33.

PMID:
12809644
[PubMed - indexed for MEDLINE]
11.

Polymorphic variants of genes encoding MTHFR, MTR, and MTHFD1 and the risk of depression in postmenopausal women in Poland.

Słopien R, Jasniewicz K, Meczekalski B, Warenik-Szymankiewicz A, Lianeri M, Jagodziński PP.

Maturitas. 2008 Nov 20;61(3):252-5. doi: 10.1016/j.maturitas.2008.08.002. Epub 2008 Sep 17.

PMID:
18801628
[PubMed - indexed for MEDLINE]
12.

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.

De Marco P, Calevo MG, Moroni A, Arata L, Merello E, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V.

J Hum Genet. 2002;47(6):319-24.

PMID:
12111380
[PubMed - indexed for MEDLINE]
13.

Analysis of the MTHFD1 promoter and risk of neural tube defects.

Carroll N, Pangilinan F, Molloy AM, Troendle J, Mills JL, Kirke PN, Brody LC, Scott JM, Parle-McDermott A.

Hum Genet. 2009 Apr;125(3):247-56. doi: 10.1007/s00439-008-0616-3. Epub 2009 Jan 8.

PMID:
19130090
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[Epidemiological study on reduced folate carrier gene(RFC1 A80G) polymorphism and other risk factors of neural tube defects].

Pei LJ, Li ZW, Zhang W, Ren AG, Zhu HP, Hao L, Zhu JH, Li Z.

Beijing Da Xue Xue Bao. 2005 Aug 18;37(4):341-5. Chinese.

PMID:
16086047
[PubMed - indexed for MEDLINE]
Free Article
15.

Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype.

Relton CL, Wilding CS, Jonas PA, Lynch SA, Tawn EJ, Burn J.

Clin Genet. 2003 Nov;64(5):424-8.

PMID:
14616766
[PubMed - indexed for MEDLINE]
16.

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.

Mol Hum Reprod. 2005 Jul;11(7):477-80.

PMID:
16123074
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):156-60. doi: 10.1002/bdra.20520.

PMID:
19137581
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A1298C polymorphism of the MTHFR gene and neural tube defects in the state of Yucatan, Mexico.

Gonzalez-Herrera L, Castillo-Zapata I, Garcia-Escalante G, Pinto-Escalante D.

Birth Defects Res A Clin Mol Teratol. 2007 Aug;79(8):622-6.

PMID:
17621650
[PubMed - indexed for MEDLINE]
19.

Reduced folate carrier polymorphisms and neural tube defect risk.

O'leary VB, Pangilinan F, Cox C, Parle-McDermott A, Conley M, Molloy AM, Kirke PN, Mills JL, Brody LC, Scott JM; Members of the Birth Defects Research Group.

Mol Genet Metab. 2006 Apr;87(4):364-9. Epub 2005 Dec 15.

PMID:
16343969
[PubMed - indexed for MEDLINE]
20.

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.

Hum Mutat. 2009 Dec;30(12):1650-6. doi: 10.1002/humu.21109.

PMID:
19777576
[PubMed - indexed for MEDLINE]
Free PMC Article

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