4 documents found, page 1 of 1
BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the C...
Frazão, L; Martins, MC; Nunes, VM; Pimentel, J; Faria, C; Miguéns, J; Sagarribay, A; Matos, M; Salgado, D; Nunes, S; Mafra, M; Roque, LGenetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine t...
The role of FNAC in the preoperative diagnosis of dermatofibrosarcoma protubera...
Manso, RT; Lemos, MM; Martins, MC; Mendonça ME
Asialotransferrina Discriminante do Consumo Excessivo Activo de Álcool, Sub-Agu...
Peneda, J; Fonseca, A; Martins Neves; Ribeiro, P; Alves, M; Redondo, I; Calinas, F; Martins, MCA determinação dos níveis séricos de transferrina deficiente em carbo-hidratos (CDT) e do rácio de transferrina no consumidor abusivo persistente de álcool aparece com promissora utilidade na área da alcoologia. Na série actual demonstra-se excelente especificidade (970 o) no entanto com fraca sensibilidade (52° o) para o CDT. Contudo o rácio CDT Tft adiciona-lhe uma sensibilidade acrescida atingindo 740 o mant...
Rastreio Neonatal de Hemoglobinopatias numa População Residente em Portugal
Peres, MJ; Carreiro, MH; Machado, MC; Seixas, T; Picanço, I; Batalha, L; Lavinha, J; Martins, MCThe primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygous carriers followed by the screening and counselling of family members. We performed a pilot study for the neonat...