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J.M. Biselli

Publications of : J.M. Biselli
Human Genetics   Research Article

Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 .. Read More»

Genet. Mol. Res. 16(3): gmr16039738

DOI: 10.4238/gmr16039738

Cytogenomics   Research Article

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

    J.M. Biselli, E.M. Goloni-Bertollo, B.L. Zampieri, R. Haddad, M.N. Eberlin and E.C. Pavarino-Bertelli

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who had no children with DS wer.. Read More»

Genet. Mol. Res. 7(1): vol7-1gmr388

DOI: 10.4238/vol7-1gmr388