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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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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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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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Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
Jaouani M, Manco L, Kalai M, Chaouch L, Douzi K, Silva A, Macedo S, Darragi I, Boudriga I, Chaouachi D, Fitouri Z, Van Wijk R, Ribeiro ML, Abbes S.
Int J Lab Hematol. 2017 Jan 30. doi: 10.1111/ijlh.12610. [Epub ahead of print]
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Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C, Petousi N, Bento C, Cario H, Copley RR, McMullin MF, van Wijk R, Ratcliffe PJ, Robbins PA, Taylor JC; WGS500 Consortium.
Haematologica. 2016 Nov;101(11):1306-1318. Epub 2016 Sep 20
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Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
Sousa R, Gonçalves C, Guerra IC, Costa E, Fernandes A, do Bom Sucesso M, Azevedo J, Rodriguez A, Rius R, Seabra C, Ferreira F, Ribeiro L, Ferrão A, Castedo S, Cleto E, Coutinho J, Carvalho F, Barbot J
Orphanet J Rare Dis. 2016 Jul 25;11(1):102. doi: 10.1186/s13023-016-0485-0
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Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
Del Orbe Barreto R, Arrizabalaga B, De la Hoz AB, García-Orad Á, Tejada MI, Garcia-Ruiz JC, Fidalgo T, Bento C, Manco L, Ribeiro ML.
Int J Lab Hematol. 2016 Jul 17. doi: 10.1111/ijlh.12551. [Epub ahead of print]
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