4 documents found, page 1 of 1
Wide spectrum of F9 variants in hemophilia B families from the Portuguese popul...
Moreira, Isabel; Diniz, Maria João; Tavares, Alice; Morais, Sara; Freitas, B.; Araújo, F.; Gago, T.; Antunes, EM; Catarino, C.; Campos, M.; Almeida, T.Introduction: Hemophilia B is an X-linked bleeding disorder caused by molecular defects in the Factor IX gene (F9), leading to either deficiency or functional abnormality of Factor IX. Actual data indicate a high heterogeneity of variants in F9. Over 1000 different variants have been reported, including pathogenic single nucleotide variants (SNPs), indels and complex variants. Materials and Methods: 86 index pa...
A conceptual model for building design coordination using open source tools
Freitas, B.; Costa, C. J.; Aparicio, M.; Genin, S.Building Design Coordination is the process of communicating and integrating multidisciplinary designs into a single, coherent set of information that can be used for construction, to anticipate problems that would otherwise only be raised on the construction site. As projects grow in complexity and size, digital communication tools and other technological improvements have made it possible for physically dista...
Influence of histochemical stains on DNA obtained from FFPE samples
Boghenco, O.; Freitas, B.; Pote, Alexandra; Marques-Ramos, AnaIntroduction: Formalin-fixed, paraffin embedded (FFPE) samples are used for diagnostic and prognostic purposes. Histopathological analysis frequently includes not only histomorphological evaluation but also histochemical and molecular studies. In some cases FFPE samples are scarce and it is necessary to use the same histological section for histochemical analysis and DNA extraction. In molecular pathology labs ...
Dengue outbreak in Madeira Island (Portugal). Blood safety measures.
Escoval, M.A.; Sousa, G.; Freitas, B.; Sousa, A.P.; Alves, M.J.; Núncio, M.S.; Mansinho, K.; Carmona, R.