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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 31
DataTítuloAutor(es)TipoAcesso
2016Aberrant p15, p16, p53, and DAPK Gene Methylation in Myelomagenesis: Clinical and Prognostic ImplicationsGeraldes, C; Gonçalves, AC; Cortesão, E; Pereira, MI; Roque, A; Paiva, A; Ribeiro, L; Nascimento-Costa, JM; Sarmento-Ribeiro, ABarticleopenAccess
Out-2015Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese StudyFidalgo, T; Martinho, P; Salvado, R; Manco, L; Oliveira, AC; Pinto, CS; Gonçalves, E; Marques, D; Sevivas, T; Martins, N; Ribeiro, MLarticleopenAccess
Jan-2014JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patientsCoucelo, M; Caetano, G; Sevivas, T; Almeida Santos, S; Fidalgo, T; Bento, C; Fortuna, M; Duarte, M; Menezes, C; Ribeiro, MLarticleopenAccess
25-Out-2018Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNABorràs, N; Orriols, G; Batlle, J; Pérez-Rodríguez, A; Fidalgo, T; Martinho, P; López-Fernández, MF; Rodríguez-Trillo, Á; Lourés, E; Parra, R; Altisent, C; Cid, AR; Bonanad, S; Cabrera, N; Moret, A; Mingot-Castellano, ME; Navarro, N; Pérez-Montes, R; Marcellini, S; Moreto, A; Herrero, S; Soto, I; Fernández-Mosteirín, N; Jiménez-Yuste, V; Alonso, N; de Andrés-Jacob, A; Fontanes, E; Campos, R; Paloma, MJ; Bermejo, N; Berrueco, R; Mateo, J; Arribalzaga, K; Marco, P; Palomo, Á; Castro Quismondo, N; Iñigo, B; Nieto, MM; Vidal, R; Martínez, MP; Aguinaco, R; Tenorio, JM; Ferreiro, M; García-Frade, J; Rodríguez-Huerta, AM; Cuesta, J; Rodríguez-González, R; García-Candel, F; Dobón, M; Aguilar, C; Vidal, F; Corrales, IarticleopenAccess
Mai-2018Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndromeNavarro, D; Azevedo, A; Sequeira, S; Ferreira, AC; Carvalho, F; Fidalgo, T; Vilarinho, L; Santos, MC; Calado, J; Nolasco, FarticleopenAccess
Dez-2015New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndromeLopes, D; Gomes, AM; Cunha, C; Pinto, CS; Fidalgo, T; Fernandes, JCarticleopenAccess
Jul-2017Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencingFidalgo, T; Martinho, P; Pinto, CS; Oliveira, AC; Salvado, R; Borràs, N; Coucelo, M; Manco, L; Maia, T; Mendes, MJ; Del Orbe Barreto, R; Corrales, I; Vidal, F; Ribeiro, MLarticleopenAccess
8-Dez-2015Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem CellsGarate, Z; Quintana-Bustamante, O; Crane, AM; Olivier, E; Poirot, L; Galetto, R; Kosinski, P; Hill, C; Kung, C; Agirre, X; Orman, I; Cerrato, L; Alberquilla, O; Rodriguez-Fornes, F; Fusaki, N; Garcia-Sanchez, F; Maia, TM; Ribeiro, ML; Sevilla, J; Prosper, F; Jin, S; Mountford, J; Guenechea, G; Gouble, A; Bueren, JA; Davis, BR; Segovia, JCarticleopenAccess
2015[Hodgkin's Lymphoma and Autoimmunity: Is There a Relationship?]Jerónimo, M; Silva, S; Benedito, M; Brito, MJarticleopenAccess
28-Jan-2016A novel haemoglobin variant mimicking cyanotic congenital heart diseaseAbecasis, F; Marques, I; Bento, C; Ferrão, AarticleopenAccess
24-Dez-2014Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative studySánchez-Guiu, I; Antón, AI; Padilla, J; Velasco, F; Lucia, JF; Lozano, Ml; Cid, AR; Sevivas, T; Lopez-Fernandez, MF; Vicente, V; González-Manchón, C; Rivera, J; Lozano, MLarticleopenAccess
4-Jul-2016Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGSFidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, Elsa; Diniz, MJ; Antunes, M; Tavares, A; Caetano, G; Kjöllerström, P; Maia, R; Sevivas, TS; Vidal, F; Ribeiro, LarticleopenAccess
11-Out-2016Impact of splenic artery ligation after major hepatectomy on liver function, regeneration and viabilityCarrapita, J; Abrantes, AM; Campelos, S; Gonçalves, AC; Cardoso, D; Sarmento-Ribeiro, AB; Rocha, C; Santos, JN; Botelho, MF; Tralhão, JG; Farges, O; Barbosa, JMarticleopenAccess
2014Erythrocytosis associated with a novel missense mutation in the BPGM genePetousi, N; Copley, RR; Lappin, TR; Haggan, SE; Brito, C; Cario, H; et alarticleopenAccess
2014Erythrocytosis associated with a novel missense mutation in the BPGM genePetousi, N; Copley, RR; Lappin, TR; Haggan, SE; Bento, C; Cario, H; Percy, MJ; Consortium, TW; Ratcliffe, PJ; Robbins, PA; McMullin, MFarticleopenAccess
2014Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimerasGross, M; Ben-Califa, N; McMullin, MF; Percy, MJ; Bento, C; Cario, H; Minkov, M; Neumann, DarticleopenAccess
2014Molecular and cytogenetic characterization of expanded B-cell clones from multiclonal versus monoclonal B-cell chronic lymphoproliferative disorders.Henriques, A; Rodriguez-Caballero, A; Criado, I; Langerak, AW; Nieto, WG; Lecrevisse, Q; Gonzáles, M; Cortesão, E; Paiva, A; Almeida, J; Orfão, AarticleopenAccess
2010Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older womanManco, L; Pereira, J; Relvas, L; Rebelo, U; Crisóstomo, AI; Bento, C; Ribeiro, MLarticleopenAccess
2013Evolutionary Constraints in the b-Globin Cluster: The Signature of Purifying Selection at the d-Globin (HBD) Locus and Its Role in Developmental Gene RegulationMoleirinho, A; Seixas, A; Lopes, AM; Bento, C; Prata, MJ; Amorim, AarticleopenAccess
2011Severe intracranial haemorrhage in neonatal alloimmune thrombocytopeniaSilva, F; Morais, S; Sevivas, T; Veiga, R; Salvado, R; Taborda, AarticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 31