Ribeiro, M. L.
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Credit Name
Ribeiro, M. L.
Name
Ribeiro, Letícia
Variants
Ribeiro, L.
Unidade de I&D
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Status
UC Researcher
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Publications
(All)
Results 1-14 of 14 (Search time: 0.216 seconds).
| Issue Date | Title | Author(s) | Type | Access | |
|---|---|---|---|---|---|
| 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 | 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 |
| 5 | 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 |
| 6 | 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 |
| 7 | 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 |
| 8 | 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 |
| 9 | 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 |
| 10 | 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 |
| 11 | 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 |
| 12 | 2013 | Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain | Bento, C. ; Almeida, H. ; Fernandez-Lago, C. ; Ribeiro, M. L. | article | openAccess |
| 13 | 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 |
| 14 | 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 |