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Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.
Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL. Bosco P, et al. Among authors: caraci f. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. doi: 10.1002/ajmg.a.20234. Am J Med Genet A. 2003. PMID: 12923861
The CC genotype of transforming growth factor-β1 increases the risk of late-onset Alzheimer's disease and is associated with AD-related depression.
Caraci F, Bosco P, Signorelli M, Spada RS, Cosentino FI, Toscano G, Bonforte C, Muratore S, Prestianni G, Panerai S, Giambirtone MC, Gulotta E, Romano C, Salluzzo MG, Nicoletti F, Copani A, Drago F, Aguglia E, Ferri R. Caraci F, et al. Eur Neuropsychopharmacol. 2012 Apr;22(4):281-9. doi: 10.1016/j.euroneuro.2011.08.006. Epub 2011 Sep 15. Eur Neuropsychopharmacol. 2012. PMID: 21924590
236 results