Browsing by Author Queiroz, Maria Celeste Sena São Miguel Bento Lago de

Results 1 to 19 of 19
Issue DateTitleAuthor(s)TypeAccess
2016A novel haemoglobin variant mimicking cyanotic congenital heart diseaseAbecasis, Francisco ; Marques, Inês ; Bento, Celeste ; Ferrão, Anabela articleembargoedAccess
2012Caracterização molecular e funcional de variantes de hemoglobina na cadeia beta, identificadas no Centro Hospitalar e Universitário de CoimbraNeves, Joana Rodrigues masterThesisopenAccess
2012Caraterização molecular e funcional de variantes alfa de hemoglobina identificadas no Centro Hospitalar e Universitário de CoimbraGameiro, Mariline da Silva masterThesisopenAccess
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
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
2007Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levelsCoutinho, Ana ; Sousa, Inês ; Martins, Madalena ; Correia, Catarina ; Morgadinho, Teresa ; Bento, Celeste ; Marques, Carla ; Ataíde, Assunção ; Miguel, Teresa ; Moore, Jason ; Oliveira, Guiomar ; Vicente, Astrid articleopenAccess
2016Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutationsCamps, Carme ; Petousi, Nayia ; Bento, Celeste ; Cario, Holger ; Copley, Richard R. ; McMullin, Mary Frances ; van Wijk, Richard ; Ratcliffe, Peter J. ; Robbins, Peter A. ; Taylor, Jenny C. 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
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
2016Hereditary xerocytosis, a misleading anemiaDel Orbe Barreto, R. ; Arrizabalaga, B. ; De la Hoz Rastrollo, A. B. ; García-Orad, A. ; Gonzalez Vallejo, I. ; Bento, C. ; Villegas, A. ; García-Ruiz, J. C. 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
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
2013Primary familial congenital erythrocytosis: two novel EPOR mutations found in SpainBento, C. ; Almeida, H. ; Fernandez-Lago, C. ; Ribeiro, M. L. articleopenAccess
2016Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutationDel Orbe Barreto, R. ; Arrizabalaga, B. ; de la Hoz, A. B ; Aragües, P. ; Garcia-Ruiz, J. C. ; Arrieta, A. ; Adán, R. ; Manco, L. ; Macedo-Ribeiro, S. ; Bento, C. ; Ribeiro, M. L. articleopenAccess
2013Transient Neonatal Cyanosis Associated With a New Hb F VariantBento, Celeste ; Magalhães Maia, Tabita ; Carvalhais, Ines ; Moita, Filipa ; Abreu, Gabriela ; Relvas, Luis ; Pereira, Alexandra ; Farela Neves, José ; Ribeiro, Maria L. articleopenAccess
2008VEGF/Ang-2 imbalance: the crosslinking between methylglyoxal and vascular dysfunction in diabetic retinopathyBento, C. ; Fernandes, R. ; Pereira, P. articleopenAccess