Ribeiro, M. L.
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Credit Name
Ribeiro, M. L.
Name
Ribeiro, Letícia
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Ribeiro, L.
Unidade de I&D
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Status
UC Researcher
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Publications
(All)
Results 1-28 of 28 (Search time: 0.017 seconds).
Issue Date | Title | Author(s) | Type | Access | |
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1 | 2012 | Beta thalassemia major due to acquired uniparental disomy in a previously healthy adolescent | Bento, C. ; Maia, T. M. ; Milosevic, J. D. ; Carreira, I. M. ; Kralovics, R. ; Ribeiro, M. L. | article | openAccess |
2 | 2015 | Clinical relevance of erythrocyte ferritin in microcytic anemias | Vagace, Jose M. ; Peças, Antonio ; Groiss, Jorge ; Bento, Celeste ; Ribeiro, Maria Leticia ; Gervasini, Guillermo | article | openAccess |
3 | 2016 | Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency | Pereira, Janet ; Bento, Celeste ; Manco, Licinio ; Gonzalez, Ataulfo ; Vagace, Jose ; Ribeiro, Maria Letícia | article | openAccess |
4 | 28-Feb-2003 | A deficiência em piruvato-quinase (PK) na população portuguesa : estudos de genética molecular e populacional | Manco, Licínio Manuel Mendes | doctoralThesis | embargoedAccess |
5 | 2016 | Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing | Del 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. | article | openAccess |
6 | 2015 | Eritropoietina Sérica como Marcador Prognóstico em Síndrome Mielodisplásica | Cortesão, Emília ; Tenreiro, Rita; Ramos, Sofia; Pereira, Marta I. ; César, Paula; Carda, José P.; Gomes, Marília ; Rito, Luís Carlos ; Magalhães, Emília; Gonçalves, Ana C. ; Silva, Nuno C. e; Geraldes, Catarina ; Pereira, Amélia ; Ribeiro, Letícia ; Costa, José M. Nascimento ; Ribeiro, Ana B. Sarmento | article | openAccess |
7 | 2015 | Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study | Fidalgo, Teresa ; Martinho, Patrícia ; Salvado, Ramon ; Manco, Licínio ; Oliveira, Ana C. ; Pinto, Catarina S. ; Gonçalves, Elsa ; Marques, Dalila ; Sevivas, Teresa ; Martins, Natália ; Ribeiro, Maria Letícia | article | openAccess |
8 | 2014 | Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases | Bento, 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. Letícia ; 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, Luís ; 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 | article | openAccess |
9 | 2016 | Genotype–phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS | Fidalgo, 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. | article | openAccess |
10 | 2013 | Hb Plasencia [α125(H8)Leu→Arg (α2)] is a Frequent Cause ofα+-Thalassemia in the Portuguese Population | Cunha, 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 | article | openAccess |
11 | 2016 | Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study | Manco, Licínio ; Bento, Celeste ; Victor, Bruno L. ; Pereira, Janet ; Relvas, Luís ; Brito, Rui M. ; Seabra, Carlos ; Maia, Tabita M. ; Ribeiro, M. Letícia | article | openAccess |
12 | 2016 | Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis | Sousa, Rosa ; Gonçalves, Cristina ; Guerra, Isabel Couto ; Costa, Emília ; Fernandes, Ana ; Bom-Sucesso, Maria do ; 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 | article | openAccess |
13 | Jun-2015 | Intragenic haplotype analysis of common HFE mutations in the Portuguese population | Toste, Sandra ; Relvas, Luís ; Pinto, Catarina ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio | article | embargoedAccess |
14 | 2013 | JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients | Coucelo, Margarida ; Caetano, Gonçalo ; Sevivas, Teresa ; Santos, Susana Almeida ; Fidalgo, Teresa ; Bento, Celeste ; Fortuna, Manuela ; Duarte, Marta ; Menezes, Cristina ; Ribeiro, M. Letícia | article | openAccess |
15 | Jun-2011 | Kawasaki Disease and Human Bocavirus – potential association? | Santos, R. A. ; Nogueira, C. S. ; Baptista, J. B ; Granja, S. ; Ribeiro, M. L. ; Rocha, M. G. | article | openAccess |
16 | 2006 | Molecular characterization of five Portuguese patients with pyrimidine 5’-nucleotidase deficient hemolytic anemia showing three new P5’N-I mutations | Manco, Licínio ; Relvas, Luís ; Pinto, C. Silva ; Pereira, Janet ; Almeida, A. Bessa ; Ribeiro, M. Letícia | article | openAccess |
17 | 2013 | Molecular 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 | article | openAccess |
18 | 2007 | Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles | Manco, Licínio ; Gonçalves, Paula ; Antunes, Patrícia ; Maduro, Filomena ; Abade, Augusto ; Ribeiro, M. Letícia | article | openAccess |
19 | 2010 | Percentagem de plaquetas reticuladas : um parâmetro útil no diagnóstico da Púrpura Trombocitopénica Imune Primária | Pinheiro, Ana Cristina da Costa Abrantes | masterThesis | openAccess |
20 | 2015 | Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin | Pereira, Clara ; Relvas, Luís ; Bento, Celeste ; Abade, Augusto ; Ribeiro, M. Letícia ; Manco, Licínio | article | openAccess |
21 | 2013 | Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain | Bento, C. ; Almeida, H. ; Fernandez-Lago, C. ; Ribeiro, M. L. | article | openAccess |
22 | 2010 | Prothrombotic status in Myeloproliferative neoplasms : the role of JAK2V617F allele burden and platelets/leukocytes activation | Coucelo, Margarida Carreira Revez Pereira | masterThesis | openAccess |
23 | 2012 | Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria | Machado, Patrícia ; Manco, Licínio ; Gomes, Cláudia; Mendes, Cristina ; Fernandes, Natércia; Salomé, Graça; Sitoe, Luis; Chibute, Sérgio; Langa, José; Ribeiro, Letícia ; Miranda, Juliana ; Cano, Jorge ; Pinto, João; Amorim, António ; do Rosário, Virgílio E; Arez, Ana Paula | article | openAccess |
24 | 2008 | Risk markers for progression of mild nonproliferative retinopathy to clinically significant macular edema in type 2 diabetic patients | Pereira, I. ; Nunes, S. ; Ribeiro, M. L. ; Bernardes, R. ; Cunha-Vaz, J. | article | openAccess |
25 | 2016 | Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation | Del 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. | article | openAccess |
26 | 2013 | Transient Neonatal Cyanosis Associated With a New Hb F Variant | Bento, Celeste ; Magalhães Maia, Tabita ; Carvalhais, Ines ; Moita, Filipa ; Abreu, Gabriela ; Relvas, Luís ; Pereira, Alexandra ; Farela Neves, José ; Ribeiro, Maria L. | article | openAccess |
27 | 2005 | Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis | Manco, Licínio ; Gonçalves, Paula ; Macedo-Ribeiro, Sandra ; Seabra, Carlos ; Melo, Paula ; Ribeiro, Maria Letícia | article | openAccess |
28 | 10-Jul-2017 | Von Willebrand factor and ADAMTS13 : Duality in hemorrhagic and thrombotic disease | Fidalgo, Teresa de Jesus Semedo | doctoralThesis | openAccess |