[1. Coppede F, Grossi E, Migheli F, Migliore L. Polymorphism in folate-metabolizing genes, chromosomal damage, and risk of Down syndrome in Italian women: identification of key factors using artificial neural networks. BMC Med Genomics. 2010, 2010 Sep 24;3:42. DOI: 10.1186/1755-8794-3-42.10.1186/1755-8794-3-42294977820868477]Search in Google Scholar
[2. James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr. 1999 Oct;70(4):495-501.10.1093/ajcn/70.4.49510500018]Search in Google Scholar
[3. Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet. 2000 Sep;67(3):623-30.10.1086/303055128752210930360]Search in Google Scholar
[4. Cuckle HS. Primary prevention of Down’s syndrome. Int J Med Sci. 2005;2(3):93-9.10.7150/ijms.2.93116887316007260]Search in Google Scholar
[5. Neagos D, Cretu R, Tutulan-Cunita A, Stoian V, Bohiltea LC. Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study. J Med Life. 2010 Oct-Dec;3(4):454-7.]Search in Google Scholar
[6. Al-Gazali LI, Padmanabhan R, Melnyk S, Yi P, Pogribny IP, Pogribna M, et al. Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect. Am J Med Genet. 2001 Oct 1;103(2):128-32.10.1002/ajmg.150911568918]Search in Google Scholar
[7. da Silva LR, Vergani N, Galdieri L, Ribeiro Porto MP, Longhitano SB, Brunoni D, et al. Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil. Am J Med Genet. 2005 Jun 15;135(3):263-7.10.1002/ajmg.a.3059115889417]Search in Google Scholar
[8. Coppede F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, et al. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am J Med Genet. 2006 May 15;140(10):1083-91.10.1002/ajmg.a.3121716596679]Search in Google Scholar
[9. Rai AK, Singh S, Mehta S, Kumar A, Pandey LK, Raman R. MTHFR C677T and A1298C polymorphisms are risk factors for Down’s syndrome in Indian mothers. J Hum Genet. 2006;51(4):278-83.10.1007/s10038-005-0356-316489479]Search in Google Scholar
[10. Scala I, Granese B, Sellitto M, Salome S, Sammartino A, Pepe A, et al. Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med. 2006 Jul;8(7):409-16.10.1097/01.gim.0000228206.21793.8216845273]Search in Google Scholar
[11. Wang SS, Qiao F, Feng L, Lv J. Polymorphism in genes involved in folate metabolism as maternal risk factors for Down syndrome in China. J Zhejiang Univ Sci. 2008 Feb;9(2):93-9. DOI: 10.1631/jzus.B0710599.10.1631/jzus.B0710599222549018257130]Search in Google Scholar
[12. Biselli JM, Goloni-Bertollo EM, Zampieri BL, Haddad R, Eberlin MN, Pavarino-Bertelli EC. Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil. Genet Mol Res. 2008 Jan 22;7(1):33-42.10.4238/vol7-1gmr38818273817]Search in Google Scholar
[13. Meguid NA, Dardir AA, Khass M, Hossieny LE, Ezzat A, El Awady MK. MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children. Dis Markers. 2008;24(1):19-26.10.1155/2008/214027385062918057532]Search in Google Scholar
[14. Cyril C, Rai P, Chandra N, Gopinath PM, Satyamoorthy K. MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India. Indian J Hum Genet. 2009 May;15(2):60-4. DOI: 10.4103/0971-6866.55217.10.4103/0971-6866.55217291095020680153]Search in Google Scholar
[15. Liao YP, Bao MS, Liu CQ, Liu H, Zhang D. Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women. Yi Chuan. 2010 May;32(5):461-6.10.3724/SP.J.1005.2010.0046120466634]Search in Google Scholar
[16. Sadiq MF, Al-Refai EA, Al-Nasser A, Khassawneh M, Al-Batayneh Q. Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan. Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):51-7. DOI: 10.1089/gtmb.2010.0057.10.1089/gtmb.2010.005721198396]Search in Google Scholar
[17. Zampieri BL, Biselli JM, Goloni-Bertollo EM, Vannucchi H, Carvalho VM, Cordeiro JA, et al. Maternal risk for Down syndrome is modulated by genes involved in folate metabolism. Dis Markers. 2012;32(2):73-81. DOI: 10.3233/DMA-2011-0869.]Search in Google Scholar
[18. Wu X., Wang X, Chan Y, Jia S, Luo Y, Tang W. Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis. Eur J Obstet Gynecol Reprod Biol. 2013 Apr;167(2):154-9. DOI: 10.1016/j.ejogrb.2012.11.022.10.1016/j.ejogrb.2012.11.02223295071]Search in Google Scholar
[19. Izci Ay O, Ay ME, Erdal ME, Cayan F, Tekin S, Soylemez F, et al. Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. Genet Test Mol Biomarkers. 2015 Apr;19(4):191-7. DOI: 10.1089/gtmb.2014.0262.10.1089/gtmb.2014.026225671679]Search in Google Scholar
[20. Kohli U, Arora S, Kabra M, Ramakrishnan L, Gulati S, Pandey RM. Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Downs Syndr Res Pract. 2008 Oct;12(2):133-7. DOI: 10.3104/reports.2004.10.3104/reports.200419026285]Search in Google Scholar
[21. Kokotas H, Grigoriadou M, Mikkelsen M, Giannoulia-Karantana A, Petersen MB. Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population. Dis Markers. 2009;27(6):279-85. DOI: 10.3233/DMA-2009-0673.]Search in Google Scholar
[22. Stuppia L, Gatta V, Gaspari A R, Antonucci I, Morizio E, Calabrese G, et al. C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet 2002 Jun;10(6):388-90.10.1038/sj.ejhg.520081912080391]Search in Google Scholar
[23. Boduroğlu K, Alanay Y, Koldan B, Tunçbilek E. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet. 2004 May 15;127A(1):5-10.10.1002/ajmg.a.2043215103709]Search in Google Scholar
[24. Vranekovic J, Babic Bozovic I, Starcevic Cizmarevic N, Buretic-Tomljanovic A, Ristic S, Petrovic O, et al. Functional interference of methylenetetrahydrofolate reductase gene polymorphisms on enzyme stability as a potential risk factor for Down syndrome in Croatia. Dis Markers. 2010;28(5):293-8. DOI: 10.3233/DMA-2010-0704.]Search in Google Scholar
[25. Rai V, Yadav U, Kumar P, Yadav SK, Mishra OP. Maternal methylenetetrahydrofolate reductase C677T polymorphism and Down syndrome risk: a meta-analysis from 34 studies. PLoS One. 2014 Sep 29;9(9):e108552. DOI: 10.1371/journal.pone.0108552.10.1371/journal.pone.0108552418074325265565]Search in Google Scholar
[26. Yang M, Gong T, Lin X, Qi L, Guo Y, Cao Z, et al. Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis. Mutagenesis. 2013 Nov;28(6):661-71. DOI: 10.1093/mutage/get045.10.1093/mutage/get04524068460]Search in Google Scholar
[27. Zhou-Cun A, Yang Y, Zhang SZ, Li N, Zhang W. Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia. Asian J Androl. 2007 Jan;9(1):57-62.10.1111/j.1745-7262.2007.00225.x16888682]Search in Google Scholar
[28. Friedman G, Goldschmidt N, Friedlander Y, Ben-Yehuda A, Selhub J, Babaey S, et al. A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentration. J Nutr. 1999 Sep;129(9):1656-61.10.1093/jn/129.9.165610460200]Search in Google Scholar
[29. Van Der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? J Am Col Cardiol. 1998 May;62(5):1044-51.10.1086/30182513770829545395]Search in Google Scholar
[30. Mohanty PK, Kapoor S, Dubey AP, Pandey S, Shah R, Nayak HK, et al. Evaluation of C677T polymorphism of the methylenetetrahydrofolate reductase gene and its association with levels of serum homocysteine, folate, and vitamin B12 as maternal risk factors for Down syndrome. Indian J Hum Genet. 2012 Sep;18(3):285-9. DOI: 10.4103/0971-6866.107977.10.4103/0971-6866.107977365651523716934]Search in Google Scholar