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Síndroma do X frágil — avaliação de indivíduos afectados e de familiares
M. Saraiva, Jorge; J. Regateiro, Fernando; A. Santos, AgostinhoA identificação do locus FRAXA responsável pelo síndroma do X frágil veio permitir a caracterização molecular deste locus nos probandos e nos seusfamiliares e o estudo da correlação dos resultados laboratoriais com as alterações fenotípicas presentes.Neste trabalho estudamos clínica e laboratorialmente indivíduos de seis famílias com casos de síndroma do X frágil. A avaliação fenotípica incluiavaliações do QI e...
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, ElizabeteThe 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. deThe 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 JSeveral 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...
E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations c...
Oliveira, Carla; Ferreira, Paulo; Nabais, Sérgio; Campos, Luísa; Ferreira, Ana; Cirnes, Luís; Alves, Catarina Castro; Veiga, Isabel; Fragoso, MariaApproximately 30% of all hereditary diffuse gastric cancer (HDGC) families carry CDH1 germline mutations. The other two thirds remain genetically unexplained and are probably caused by alterations in other genes. Using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP)/sequencing, we screened 32 Portuguese families with a history of gastric cancer and 23 patients with early onset gas...
Molecular diagnosis of Huntington disease in Portugal : implications for geneti...
Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima; Guimarães, Laura; Januário, Cristina; Gaspar, Isabel; Loureiro, Leal; Vale, JoséHuntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic te...
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