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Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain
Bento, C., Almeida, H., Fernandez-Lago, C., & Ribeiro, M. L.
Int J Lab Hematol. 2013 Mar 22
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Hb Plasencia [α125(H8)Leu→Arg (α2)] is a Frequent Cause of α(+)-Thalassemia in the Portuguese Population
Cunha E, Bento C, Oliveira A, Relvas L, Neves J, Gameiro M, Barros C, Araújo A, Macedo A, Rocha P, Costa R, Maia T, Ribeiro ML.
Hemoglobin. 2013 Jan 31. [Epub ahead of print]
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β thalassemia major due to acquired uniparental disomy in a previously healthy adolescent
Bento C, Maia TM, Milosevic JD, Carreira IM, Kralovics R, Ribeiro ML.
Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8
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Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases
Bento C, Oliveira AC, Neves J, Gameiro M, Cunha E, Coucelo M, Costa RM, Barbot J, Costa E, Fernández-Lago C, Ribeiro ML.
Hemoglobin. 2012;36(6):517-25. doi: 10.3109/03630269.2012.742911.
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ANEMIA MACROCÍTICA COM PROTEINÚRIA : UM CASO CLÍNICO
Filipa Inês Cunha, Tabita Magalhães Maia, Luís V. Martins, Clara Gomes, Manuela Benedito, Leticia Ribeiro
Saúde Infantil (under publication)
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Pyruvate Kinase Deficiency in Sub-Saharan Africa: Identification of a Highly Frequent Missense Mutation (G829A;Glu277Lys) and Association with Malaria
P. Machado, L. Manco, C. Gomes, C. Mendes, N. Fernandes, G. Salomé, L. Sitoe, S. Chibute, J. Langa, L. Ribeiro, J. Miranda, J. Cano, J. Pinto, A. Amorim, V.E. do Rosário, A.P. Arez
PLoS ONE 7(10): e47071. doi:10.1371/journal.pone.0047071
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Transient Neonatal Cyanosis Associated With a New Hb F Variant: Hb F Viseu.
Bento C, Magalhães Maia T, Carvalhais I, Moita F, Abreu G, Relvas L, Pereira A, Farela Neves J, Ribeiro ML.
J Pediatr Hematol Oncol. 2012 Aug 29. [Epub ahead of print]
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High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).
Millimono TS, Loua KM, Rath SL, Relvas L, Bento C, Diakite M, Jarvis M, Daries N, Ribeiro LM, Manco L, Kaeda JS.
Hemoglobin. 2012;36(1):25-37. doi: 10.3109/03630269.2011.600491.
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Heterozygous β thalassemia with triplication of the α globin gene.
Constanço MC, Rocha P, Bento C, Silva HM.
Acta Med Port. 2011 Jul-Aug;24(4):633-6. Epub 2011 Dec 12. Portuguese.
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Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families – 15 new mutations
Silva Pinto, C., Fidalgo, T., Salvado, R., Marques, D., Goncalves, E., Martinho, P., Markoff, A., Martins, N. and Letícia Ribeiro, M.
Haemophilia. 2011 Jun 6. doi: 10.1111/j.1365-2516.2011.02570.x.
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