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Genetic basis of congenital erythrocytosis. Bento C.
Int J Lab Hematol. 2018 May;40 Suppl 1:62-67. doi: 10.1111/ijlh.12828.
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Clonal Shifts in MDS – from SF3B1 to EZH2 A.B. Ribeiro, M. Coucelo, R. Tenreiro, A.T. Simões, G. Marques, L. Ribeiro, E. Cortesão, A.B. Sarmento-Ribeiro
Leuk. Lymphoma, April 4, 2018
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Congenital erythrocytosis - discover of a new mutation in the EGLN1 gene. Barradas J, Rodrigues CD, Ferreira G, Rocha P, Constanço C, Andrade MR, Bento C, Silva HM.
Clin Case Rep. 2018 Apr 21;6(6):1109-1111. doi: 10.1002/ccr3.1499. eCollection 2018 Jun.
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First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey Yılmaz Keskin E, Fettah A, Oliveira AC, Toprak Ş, Lopes A, Bento C.
Turk J Haematol. 2017 Dec 1;34(4):372-373. doi: 10.4274/tjh.2017.0213. Epub 2017 Aug 23.
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Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis T Sevivas, JM Bastida, DS Paul, E Caparros, V Palma-Barqueros , M Coucelo, D Marques, F Ferrer-Marín, JR González-Porras, V Vicente, JM Hernández-Rivas, SP Watson, ML Lozano , W Bergmeier, J Rivera
Platelets
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Acquired von Willebrand syndrome in haematologic malignancies - how the clinical-laboratory correlation improves a challenging diagnosis - a case series. Fidalgo T, Ferreira G, Oliveira AC, Silva Pinto C, Martinho P, Mendes MJ, Duarte M, Salvado R, Ribeiro ML.
HaemophiliA
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing T Fidalgo; P Martinho; CS Pinto; AC Oliveira; R Salvado; N Borràs; M Coucelo; L Manco; T Maia; MJ Mendes; RO Barreto; I Corrales; F Vidal; ML Ribeiro
Res Pract Thromb Haemost. 2017;1:69–80
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Recommendations for splenectomy in hereditary hemolytic anemias. Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L et al
Haematologica. 2017 May 26. pii: haematol.2016.161166. doi: 10.3324/haematol.2016.161166
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Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. Kager L, Bruce LJ, Zeitlhofer P, Flatt JF, Maia TM, Ribeiro ML, Fahrner B, Fritsch G, Boztug K, Haas OA.
Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26227. Epub 2016 Oct 8.
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VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients - a strategy for improvement of a challenging diagnosis. Fidalgo T, Oliveira A, Silva Pinto C, Martinho P, Ferreira G, Salvado R, Sevivas T, Catarino C, Ribeiro ML.
Haemophilia
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