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Results: 1 to 20 of 30

1.

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.

Mamasoula C, Prentice RR, Pierscionek T, Pangilinan F, Mills JL, Druschel C, Pass K, Russell MW, Hall D, Töpf A, Brown DL, Zelenika D, Bentham J, Cosgrove C, Bhattacharya S, Riveron JG, Setchfield K, Brook JD, Bu'Lock FA, Thornborough C, Rahman TJ, Doza JP, Tan HL, O'Sullivan J, Stuart AG, Blue G, Winlaw D, Postma AV, Mulder BJ, Zwinderman AH, van Engelen K, Moorman AF, Rauch A, Gewillig M, Breckpot J, Devriendt K, Lathrop GM, Farrall M, Goodship JA, Cordell HJ, Brody LC, Keavney BD.

Circ Cardiovasc Genet. 2013 Aug;6(4):347-53. doi: 10.1161/CIRCGENETICS.113.000191. Epub 2013 Jul 22.

PMID:
23876493
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

BMC Med Genet. 2012 Aug 2;13:62.

PMID:
22856873
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

BMC Med Genet. 2012 Apr 20;13:29. doi: 10.1186/1471-2350-13-29.

PMID:
22520921
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes.

Stone N, Pangilinan F, Molloy AM, Shane B, Scott JM, Ueland PM, Mills JL, Kirke PN, Sethupathy P, Brody LC.

PLoS One. 2011;6(7):e21851. doi: 10.1371/journal.pone.0021851. Epub 2011 Jul 12.

PMID:
21765920
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

Carter TC, Pangilinan F, Troendle JF, Molloy AM, VanderMeer J, Mitchell A, Kirke PN, Conley MR, Shane B, Scott JM, Brody LC, Mills JL.

Am J Med Genet A. 2011 Jan;155A(1):14-21. doi: 10.1002/ajmg.a.33755. Epub 2010 Dec 10.

PMID:
21204206
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.

Pangilinan F, Mitchell A, VanderMeer J, Molloy AM, Troendle J, Conley M, Kirke PN, Sutton M, Sequeira JM, Quadros EV, Scott JM, Mills JL, Brody LC.

J Med Genet. 2010 Oct;47(10):677-85. doi: 10.1136/jmg.2009.073775. Epub 2010 Jun 24. Erratum in: J Med Genet. 2012 Dec;49(12):784.

PMID:
20577008
[PubMed - indexed for MEDLINE]
7.

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF.

Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2. Erratum in: Nat Genet. 2010 Aug;42(8):727. Scott, James M [corrected to Scott, John M].

PMID:
20436469
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.

Carter TC, Molloy AM, Pangilinan F, Troendle JF, Kirke PN, Conley MR, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Brody LC, Mills JL.

Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):84-93. doi: 10.1002/bdra.20639.

PMID:
19937600
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
10.

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
11.

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
12.

Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.

Pangilinan F, Geiler K, Dolle J, Troendle J, Swanson DA, Molloy AM, Sutton M, Conley M, Kirke PN, Scott JM, Mills JL, Brody LC.

Am J Med Genet A. 2008 Oct 15;146A(20):2617-25. doi: 10.1002/ajmg.a.32504.

PMID:
18798306
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):636-43. doi: 10.1002/bdra.20491.

PMID:
18661527
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population.

Parle-McDermott A, Pangilinan F, Mills JL, Kirke PN, Gibney ER, Troendle J, O'Leary VB, Molloy AM, Conley M, Scott JM, Brody LC.

Am J Med Genet A. 2007 Jun 1;143A(11):1174-80.

PMID:
17486595
[PubMed - indexed for MEDLINE]
15.

The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.

Parle-McDermott A, Mills JL, Molloy AM, Carroll N, Kirke PN, Cox C, Conley MR, Pangilinan FJ, Brody LC, Scott JM.

Mol Genet Metab. 2006 Jul;88(3):290-4. Epub 2006 Apr 18.

PMID:
16621645
[PubMed - indexed for MEDLINE]
16.

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
17.

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]
18.

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.

Am J Med Genet A. 2005 Oct 1;138A(2):99-106.

PMID:
16145688
[PubMed - indexed for MEDLINE]
19.

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
20.

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.

Mol Genet Metab. 2005 Jul;85(3):220-7. Epub 2005 Mar 17.

PMID:
15979034
[PubMed - indexed for MEDLINE]

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