CIAS - Research Centre for Anthropology and Health
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CIAS - Research Centre for Anthropology and Health
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Results 1-20 of 22 (Search time: 0.034 seconds).
Issue Date | Title | Author(s) | Type | Access | |
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1 | 2016 | A novel haemoglobin variant mimicking cyanotic congenital heart disease | Abecasis, Francisco ; Marques, Inês ; Bento, Celeste ; Ferrão, Anabela | article | embargoedAccess |
2 | 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 |
3 | 1-Nov-2023 | Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis | Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; Rimbert, Antoine; Karaghiannis, Valéna; Aral, Bernard; Catherwood, Mark; Airaud, Fabrice; Mansour-Hendili, Lamisse; Hoogewijs, David; Peroni, Edoardo; Idriss, Salam; Lesieur, Valentine; Caillaud, Amandine; Si-Tayeb, Karim; Chariau, Caroline; Gaignerie, Anne; Rab, Minke; Haferlach, Torsten; Meggendorfer, Manja; Bézieau, Stéphane; Benetti, Andrea; Casadevall, Nicole ; Hirsch, Pierre; Rose, Christian; Wemeau, Mathieu; Galacteros, Frédéric; Cassinat, Bruno; Bellosillo, Beatriz; Bento, Celeste ; van Wijk, Richard ; Petrides, Petro E; Randi, Maria Luigia; McMullin, Mary Frances ; Koivunen, Peppi; Girodon, François ; Gardie, Betty | article | openAccess |
4 | 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 |
5 | 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 |
6 | 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 |
7 | 2007 | Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels | Coutinho, Ana ; Sousa, Inês ; Martins, Madalena ; Correia, Catarina ; Morgadinho, Teresa ; Bento, Celeste ; Marques, Carla ; Ataíde, Assunção ; Miguel, Teresa ; Moore, Jason ; Oliveira, Guiomar ; Vicente, Astrid | article | openAccess |
8 | 2016 | Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations | Camps, 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. | article | openAccess |
9 | 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 |
10 | 2016 | Haemoglobin kenitra identified in a Portuguese man with type 2 diabetes and pheochromocytoma | Cabral, V. ; Silva Nunes, J. ; Bento, C. ; Sobreira, R. ; Rodrigues, I. ; Shvets, R. ; Silvestre, M. J. ; Barros, R. | article | openAccess |
11 | 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 |
12 | 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 |
13 | 2016 | Hereditary xerocytosis, a misleading anemia | Del 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. | article | openAccess |
14 | 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 |
15 | 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 |
16 | 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 |
17 | 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 |
18 | 2013 | Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain | Bento, C. ; Almeida, H. ; Fernandez-Lago, C. ; Ribeiro, M. L. | article | openAccess |
19 | Dec-2011 | Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury | Catré, Dora ; Lopes, Maria Francelina ; Bento, Celeste ; Cabrita, A. Silvério | article | openAccess |
20 | 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 |