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Items: 1 to 20 of 104

1.

Vitamin D3 increases the Caspase-3 p12, MTHFR, and P-glycoprotein reducing amyloid-β42 in the kidney of a mouse model for Down syndrome.

Gomes FC, de Melo-Neto JS, Ferrari MFR, Carlos CP, Goloni-Bertollo EM, Pavarino ÉC.

Life Sci. 2019 Aug 15;231:116537. doi: 10.1016/j.lfs.2019.06.012. Epub 2019 Jun 6.

PMID:
31176774
2.

Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome.

Babić Božović I, Stanković A, Živković M, Vraneković J, Mahulja-Stamenković V, Brajenović-Milić B.

Front Genet. 2019 Feb 6;10:41. doi: 10.3389/fgene.2019.00041. eCollection 2019.

3.

The association between maternal methylenetetrahydrofolate reductase C677T and A1298C polymorphism and birth defects and adverse pregnancy outcomes.

Zhang Y, He X, Xiong X, Chuan J, Zhong L, Chen G, Yu D.

Prenat Diagn. 2019 Jan;39(1):3-9. doi: 10.1002/pd.5396. Epub 2018 Dec 19.

PMID:
30474229
4.

Genetic polymorphisms in folate metabolism as risk for Down syndrome in the southern China.

Jiajin L, Shuyan C, Ying W, Junxiao C, Xiudi W.

J Matern Fetal Neonatal Med. 2019 Jun;32(12):2030-2035. doi: 10.1080/14767058.2018.1424818. Epub 2018 Jan 17.

PMID:
29343135
5.

MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome.

Asim A, Agarwal S, Panigrahi I, Saiyed N, Bakshi S.

Intractable Rare Dis Res. 2017 Nov;6(4):295-298. doi: 10.5582/irdr.2017.01068.

6.

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.

Yu D, Zhuang Z, Wen Z, Zang X, Mo X.

Ital J Pediatr. 2017 Dec 4;43(1):108. doi: 10.1186/s13052-017-0425-1. Review.

7.

Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.

Balarin MAS, Cintra MTR, Cordeiro F, Naves L, da Silva-Grecco RL.

J Matern Fetal Neonatal Med. 2017 Nov 27:1-7. doi: 10.1080/14767058.2017.1404565. [Epub ahead of print]

PMID:
29130768
8.

Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.

Jaiswal SK, Sukla KK, Chauhan A, Lakhotia AR, Kumar A, Rai AK.

Eur J Clin Nutr. 2017 Jan;71(1):45-50. doi: 10.1038/ejcn.2016.190. Epub 2016 Sep 28.

PMID:
27677362
9.
10.

Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.

Jackson RA, Nguyen ML, Barrett AN, Tan YY, Choolani MA, Chen ES.

Cell Mol Life Sci. 2016 Nov;73(21):4001-17. doi: 10.1007/s00018-016-2276-0. Epub 2016 May 31. Review.

PMID:
27245382
11.

Increased MTHFR promoter methylation in mothers of Down syndrome individuals.

Coppedè F, Denaro M, Tannorella P, Migliore L.

Mutat Res. 2016 May;787:1-6. doi: 10.1016/j.mrfmmm.2016.02.008. Epub 2016 Feb 22.

PMID:
26926955
12.

Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia.

Petik B, Cevik MO, Sirik M, Colak D, Erturk SM.

J Belg Soc Radiol. 2016 Feb 8;100(1):22. doi: 10.5334/jbr-btr.975.

13.

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

Coppedè F.

Front Genet. 2015 Jun 25;6:223. doi: 10.3389/fgene.2015.00223. eCollection 2015. Review.

14.

Role of folate-homocysteine pathway gene polymorphisms and nutritional cofactors in Down syndrome: A triad study.

Sukla KK, Jaiswal SK, Rai AK, Mishra OP, Gupta V, Kumar A, Raman R.

Hum Reprod. 2015 Aug;30(8):1982-93. doi: 10.1093/humrep/dev126. Epub 2015 Jun 3.

PMID:
26040482
15.

[Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21].

Guo Q, Wang H, Yang K, Zhang B, Li T, Liao S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):395-9. doi: 10.3760/cma.j.issn.1003-9406.2015.03.021. Chinese.

PMID:
26037359
16.

Altered LINE-1 Methylation in Mothers of Children with Down Syndrome.

Božović IB, Stanković A, Živković M, Vraneković J, Kapović M, Brajenović-Milić B.

PLoS One. 2015 May 27;10(5):e0127423. doi: 10.1371/journal.pone.0127423. eCollection 2015.

17.

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
18.

Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India.

Rai V, Yadav U, Kumar P, Yadav SK.

Indian J Hum Genet. 2014 Apr;20(2):142-7. doi: 10.4103/0971-6866.142858.

19.

Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.

Rai V, Yadav U, Kumar P, Yadav SK, Mishra OP.

PLoS One. 2014 Sep 29;9(9):e108552. doi: 10.1371/journal.pone.0108552. eCollection 2014.

20.

Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele.

Victorino DB, Godoy MF, Goloni-Bertollo EM, Pavarino EC.

Mol Biol Rep. 2014 Aug;41(8):5491-504. doi: 10.1007/s11033-014-3424-y. Epub 2014 Jun 10. Review.

PMID:
24913031

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