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Lack of association of vitamin D receptor gene polymorphisms with susceptibilit...

Lemos, Manuel C.; Fagulha, Ana; Coutinho, Eduarda; Gomes, Leonor; Bastos, Margarida; Barros, Luisa; Carrilho, Francisco; Geraldes, Elizabete

The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. Association studies of VDR polymorphisms and risk of type 1 diabetes often produced conflicting results in different ethnic backgrounds. The aim of this study was to test for association between common VDR polymorphisms and the genetic susceptibility to type 1 diabetes in the Portuguese population. We genotyped 207...


Molecular detection of EGFRvIII-positive cells in the peripheral blood of breas...

Silva, Henriqueta A. C.; Abraúl, Elsa; Raimundo, Dulce; Dias, Margarida F.; Marques, Carlos; Guerra, Carlos; Oliveira, Carlos F. de

The aim of this study is to evaluate epidermal growth factor receptor variant III, EGFRvIII, a cancer specific mutant, as a possible marker for the diagnosis of breast cancer occult systemic disease. EGFRvIII mRNA was identified by an RT-nested PCR with a high sensitivity. In 102 women studied, the mutant was detected in the peripheral blood of 30% of 33 low risk, early stage patients, in 56% of 18 patients sel...


CYP2D6 genetic polymorphisms are associated with susceptibility to pituitary tu...

Gomes, Leonor; Lemos, Manuel C; Paiva, Isabel; Ribeiro, Cristina; Carvalheiro, Manuela; Regateiro, Fernando J

Several polymorphisms of drug-metabolizing enzymes have been implicated in the susceptibility to tumor development. The role of the CYP2D6, GSTM1 and GSTT1 genes has been extensively studied, with alleles conferring different metabolic efficiencies and tumor risk. We studied the relationship between the main polymorphisms of these genes and the susceptibility to develop pituitary tumors, by performing a case-co...

Data: 2005   |   Origem: Acta Médica Portuguesa

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    Financiadores do RCAAP

Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência Programa Operacional da Sociedade do Conhecimento União Europeia