Browsing by Author Ribeiro, Maria Letícia Sousa


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Issue DateTitleAuthor(s)TypeAccess
2015Clinical relevance of erythrocyte ferritin in microcytic anemiasVagace, Jose M. ; Peças, Antonio ; Groiss, Jorge ; Bento, Celeste ; Ribeiro, Maria Leticia ; Gervasini, Guillermo articleopenAccess
2016Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiencyPereira, Janet ; Bento, Celeste ; Manco, Licinio ; Gonzalez, Ataulfo ; Vagace, Jose ; Ribeiro, Maria Letícia articleopenAccess
28-Feb-2003A deficiência em piruvato-quinase (PK) na população portuguesa : estudos de genética molecular e populacionalManco, Licínio Manuel Mendes doctoralThesisembargoedAccess
2016Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencingDel Orbe Barreto, R. ; Arrizabalaga, B. ; De la Hoz, A. B. ; García-Orad, Á. ; Tejada, M. I. ; Garcia-Ruiz, J. C. ; Fidalgo, T. ; Bento, C. ; Manco, L. ; Ribeiro, M. L. articleopenAccess
2015Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese StudyFidalgo, Teresa ; Martinho, Patrícia ; Salvado, Ramon ; Manco, Licínio ; Oliveira, Ana C. ; Pinto, Catarina S. ; Gonçalves, Elsa ; Marques, Dalila ; Sevivas, Teresa ; Martins, Natália ; Ribeiro, Maria Letícia articleopenAccess
2014Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online DatabasesBento, Celeste ; Percy, Melanie J. ; Gardie, Betty ; Maia, Tabita Magalhães ; van Wijk, Richard ; Perrotta, Silverio ; Della Ragione, Fulvio ; Almeida, Helena ; Rossi, Cedric ; Girodon, François ; Åström, Maria ; Neumann, Drorit ; Schnittger, Susanne ; Landin, Britta ; Minkov, Milen ; Randi, Maria Luigia ; Richard, Stéphane ; Casadevall, Nicole ; Vainchenker, William ; Rives, Susana ; Hermouet, Sylvie ; Ribeiro, M. Leticia ; McMullin, Mary Frances ; Cario, Holger ; Chauveau, Aurelie ; Gimenez-Roqueplo, Anne-Paule ; Bressac-de-Paillerets, Brigitte ; Altindirek, Didem ; Lorenzo, Felipe ; Lambert, Frederic ; Dan, Harlev ; Gad-Lapiteau, Sophie ; Catarina Oliveira, Ana ; Rossi, Cédric ; Fraga, Cristina ; Taradin, Gennadiy ; Martin-Nuñez, Guillermo ; Vitória, Helena ; Diaz Aguado, Herrera ; Palmblad, Jan ; Vidán, Julia ; Relvas, Luis ; Ribeiro, Maria Leticia ; Luigi Larocca, Maria ; Luigia Randi, Maria ; Pedro Silveira, Maria ; Percy, Melanie ; Gross, Mor ; Marques da Costa, Ricardo ; Beshara, Soheir ; Ben-Ami, Tal ; Ugo, Valérie articleopenAccess
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, S. C. ; Borràs, N. ; Oliveira, A. ; Martinho, P. ; Ferreira, G. ; Almeida, H. ; Oliveira, C. ; Marques, D. ; Gonçalves, E. ; Diniz, M. ; Antunes, M. ; Tavares, A. ; Caetano, G. ; Kjöllerström, P. ; Maia, R. ; Sevivas, T. S. ; Vidal, F. ; Ribeiro, L. articleopenAccess
2013Hb Plasencia [α125(H8)Leu→Arg (α2)] is a Frequent Cause ofα+-Thalassemia in the Portuguese PopulationCunha, Elizabete ; Bento, Celeste ; Oliveira, Ana ; Relvas, Luís ; Neves, Joana ; Gameiro, Mariline ; Barros, Cristina ; Araújo, Ana ; Macedo, Ana ; Rocha, Paula ; Costa, Ricardo ; Maia, Tabita ; Ribeiro, M. Letícia articleopenAccess
2016Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular studyManco, Licínio ; Bento, Celeste ; Victor, Bruno L. ; Pereira, Janet ; Relvas, Luís ; Brito, Rui M. ; Seabra, Carlos ; Maia, Tabita M. ; Ribeiro, M. Letícia articleopenAccess
2016Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesisSousa, Rosa ; Gonçalves, Cristina ; Guerra, Isabel Couto ; Costa, Emília ; Fernandes, Ana ; do Bom Sucesso, Maria ; Azevedo, Joana ; Rodriguez, Alfredo ; Rius, Rocio ; Seabra, Carlos ; Ferreira, Fátima ; Ribeiro, Letícia ; Ferrão, Anabela ; Castedo, Sérgio ; Cleto, Esmeralda ; Coutinho, Jorge ; Carvalho, Félix ; Barbot, José ; Porto, Beatriz articleopenAccess
Jun-2015Intragenic haplotype analysis of common HFE mutations in the Portuguese populationToste, Sandra ; Relvas, Luís ; Pinto, Catarina ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M Letícia ; Manco, Licínio articleembargoedAccess
2013JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patientsCoucelo, Margarida ; Caetano, Gonçalo ; Sevivas, Teresa ; Almeida Santos, Susana ; Fidalgo, Teresa ; Bento, Celeste ; Fortuna, Manuela ; Duarte, Marta ; Menezes, Cristina ; Ribeiro, M. Letícia articleopenAccess
Jun-2011Kawasaki Disease and Human Bocavirus – potential association?Santos, R. A. ; Nogueira, C. S. ; Baptista, J. B ; Granja, S. ; Ribeiro, M. L. ; Rocha, M. G. articleopenAccess
2006Molecular characterization of five Portuguese patients with pyrimidine 5’-nucleotidase deficient hemolytic anemia showing three new P5’N-I mutationsManco, Licínio ; Relvas, Luís ; Pinto, C. Silva ; Pereira, Janet ; Almeida, A. Bessa ; Ribeiro, M. Letícia articleopenAccess
2013Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?)Bento, Celeste ; Almeida, Helena ; Maia, Tabita M. ; Relvas, Luís ; Oliveira, Ana C. ; Rossi, Cédric ; Girodon, François ; Fernandez-Lago, Carlos ; Aguado-Diaz, Ascension ; Fraga, Cristina ; Costa, Ricardo M. ; Araújo, Ana L. ; Silva, João ; Vitória, Helena ; Miguel, Natalina ; Silveira, Maria Pedro ; Martin-Nuñez, Guillermo ; Ribeiro, Maria Letícia articleopenAccess
2007Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated allelesManco, Licínio ; Gonçalves, Paula ; Antunes, Patrícia ; Maduro, Filomena ; Abade, Augusto ; Ribeiro, M. Letícia articleopenAccess
2010Percentagem de plaquetas reticuladas : um parâmetro útil no diagnóstico da Púrpura Trombocitopénica Imune PrimáriaPinheiro, Ana Cristina da Costa Abrantes masterThesisopenAccess
2013Primary familial congenital erythrocytosis: two novel EPOR mutations found in SpainBento, C. ; Almeida, H. ; Fernandez-Lago, C. ; Ribeiro, M. L. articleopenAccess
2010Prothrombotic status in Myeloproliferative neoplasms : the role of JAK2V617F allele burden and platelets/leukocytes activationCoucelo, Margarida Carreira Revez Pereira masterThesisopenAccess
2008Risk markers for progression of mild nonproliferative retinopathy to clinically significant macular edema in type 2 diabetic patientsPereira, I. ; Nunes, S. ; Ribeiro, M. L. ; Bernardes, R. ; Cunha-Vaz, J. articleopenAccess