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Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, et al
Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.
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JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients
Margarida Coucelo, Gonçalo Caetano, Teresa Sevivas, Susana Almeida Santos, Teresa Fidalgo, Celeste Bento, Manuela Fortuna, Marta Duarte, Cristina Menezes, M. Letícia Ribeiro
Int J Hematol 2014, DOI 10.1007/s12185-013-1475-9 [Epub 2013 Nov 26]
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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)?)
Celeste Bento, Helena Almeida, Tabita Magalhães Maia, Luís Relvas, Ana Catarina Oliveira, Cédric Rossi, François Girodon, Carlos Fernandez-Lago, Ascension Aguado-Diaz, Cristina Fraga5, Ricardo Marques
Eur J Haematol, 2013
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Erythrocytosis in children and adolescents - classification, characterization and consensus recommendations for the diagnostic approach.
Cario H, McMullin MF, Bento C, Pospisilova D, Percy MJ, Hussein K, Schwarz J, Åström M, Hermouet S.
Pediatr Blood Cancer, 2013
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Protective perioperative strategy using a third generation hydroxyethyl starch during surgery in a murine model of liver reperfusion injury
Catré, D., Lopes, M., Bento, C., & Cabrita, A
Acta Cirurgica Brasileira, 26(6), 456-462
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Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation
Moleirinho, A., Seixas, S., Lopes, A. M., Bento, C., Prata, M. J., & Amorim, A
Genome Biology and Evolution, 2013, 1-36
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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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