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Items: 1 to 20 of 144

1.

Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Locke AE, Dooley KJ, Tinker SW, Cheong SY, Feingold E, Allen EG, Freeman SB, Torfs CP, Cua CL, Epstein MP, Wu MC, Lin X, Capone G, Sherman SL, Bean LJ.

Genet Epidemiol. 2010 Sep;34(6):613-23. doi: 10.1002/gepi.20518.

2.

Risk of congenital heart defects is influenced by genetic variation in folate metabolism.

Christensen KE, Zada YF, Rohlicek CV, Andelfinger GU, Michaud JL, Bigras JL, Richter A, Dubé MP, Rozen R.

Cardiol Young. 2013 Feb;23(1):89-98. doi: 10.1017/S1047951112000431. Epub 2012 Apr 5.

PMID:
22475273
3.

Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.

Rambo-Martin BL, Mulle JG, Cutler DJ, Bean LJH, Rosser TC, Dooley KJ, Cua C, Capone G, Maslen CL, Reeves RH, Sherman SL, Zwick ME.

G3 (Bethesda). 2018 Jan 4;8(1):105-111. doi: 10.1534/g3.117.300366.

4.

Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease.

Wang B, Liu M, Yan W, Mao J, Jiang D, Li H, Chen Y.

J Matern Fetal Neonatal Med. 2013 Dec;26(18):1768-77. doi: 10.3109/14767058.2013.799648. Epub 2013 Jun 10.

PMID:
23701284
5.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

6.

Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M; ECEMC Working Group.

Am J Med Genet A. 2006 May 1;140(9):987-97.

PMID:
16575899
7.

Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.

Brandalize AP, Bandinelli E, dos Santos PA, Roisenberg I, Schüler-Faccini L.

Am J Med Genet A. 2009 Oct;149A(10):2080-7. doi: 10.1002/ajmg.a.32989.

PMID:
19725133
8.

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

Shaw GM, Lu W, Zhu H, Yang W, Briggs FB, Carmichael SL, Barcellos LF, Lammer EJ, Finnell RH.

BMC Med Genet. 2009 Jun 3;10:49. doi: 10.1186/1471-2350-10-49.

9.

Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.

Izci Ay O, Ay ME, Erdal ME, Cayan F, Tekin S, Soylemez F, Sungur MA, Derici Yıldırım D.

Genet Test Mol Biomarkers. 2015 Apr;19(4):191-7. doi: 10.1089/gtmb.2014.0262. Epub 2015 Feb 11.

PMID:
25671679
10.

[Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women].

Liao YP, Bao MS, Liu CQ, Liu H, Zhang D.

Yi Chuan. 2010 May;32(5):461-6. Chinese.

PMID:
20466634
11.

Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease.

Shi H, Yang S, Liu Y, Huang P, Lin N, Sun X, Yu R, Zhang Y, Qin Y, Wang L.

PLoS One. 2015 Jun 2;10(6):e0128646. doi: 10.1371/journal.pone.0128646. eCollection 2015.

12.

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL.

Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017.

13.
14.

Folate pathway and nonsyndromic cleft lip and palate.

Blanton SH, Henry RR, Yuan Q, Mulliken JB, Stal S, Finnell RH, Hecht JT.

Birth Defects Res A Clin Mol Teratol. 2011 Jan;91(1):50-60. doi: 10.1002/bdra.20740. Epub 2010 Dec 1.

15.

Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population.

Zhao JY, Yang XY, Gong XH, Gu ZY, Duan WY, Wang J, Ye ZZ, Shen HB, Shi KH, Hou J, Huang GY, Jin L, Qiao B, Wang HY.

Circulation. 2012 Jan 24;125(3):482-90. doi: 10.1161/CIRCULATIONAHA.111.050245. Epub 2011 Dec 16.

PMID:
22179537
16.

Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility.

Wang D, Wang F, Shi KH, Tao H, Li Y, Zhao R, Lu H, Duan W, Qiao B, Zhao SM, Wang H, Zhao JY.

Circulation. 2017 May 2;135(18):1733-1748. doi: 10.1161/CIRCULATIONAHA.116.025164. Epub 2017 Mar 16.

PMID:
28302752
17.

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring.

Coppedè F, Migheli F, Bargagna S, Siciliano G, Antonucci I, Stuppia L, Palka G, Migliore L.

Neurosci Lett. 2009 Jan 2;449(1):15-9. doi: 10.1016/j.neulet.2008.10.074. Epub 2008 Oct 25.

PMID:
18983896
18.

Folate pathway gene polymorphisms and risk of childhood brain tumors: results from an Australian case-control study.

Greenop KR, Scott RJ, Attia J, Bower C, de Klerk NH, Norris MD, Haber M, Jamieson SE, van Bockxmeer FM, Gottardo NG, Ashton LJ, Armstrong BK, Milne E.

Cancer Epidemiol Biomarkers Prev. 2015 Jun;24(6):931-7. doi: 10.1158/1055-9965.EPI-14-1248. Epub 2015 Mar 25.

19.

Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect.

Ghosh P, Bhaumik P, Ghosh S, Ozbek U, Feingold E, Maslen C, Sarkar B, Pramanik V, Biswas P, Bandyopadhyay B, Dey SK.

Am J Med Genet A. 2012 Nov;158A(11):2843-8. doi: 10.1002/ajmg.a.35626. Epub 2012 Sep 14.

PMID:
22987595
20.

Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis.

Cai B, Zhang T, Zhong R, Zou L, Zhu B, Chen W, Shen N, Ke J, Lou J, Wang Z, Sun Y, Liu L, Song R.

PLoS One. 2014 Mar 4;9(3):e89609. doi: 10.1371/journal.pone.0089609. eCollection 2014.

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