Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre‐leukaemic clone resulting in T2‐ALL and AML‐M0

Por Manchev, Vladimir T., Bouzid, Hind, Antony‐Debré, Iléana, Leite, Betty, Meurice, Guillaume, Droin, Nathalie, Prebet, Thomas, Costello, Régis T., Vainchenker, William, Plo, Isabelle, Diop, M'boyba, Macintyre, Elizabeth, Asnafi, Vahid, Favier, Rémi, Baccini, Véronique, Raslova, Hana
Publicado no J Cell Mol Med (2016)

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

Por Latger-Cannard, Veronique, Philippe, Christophe, Bouquet, Alexandre, Baccini, Veronique, Alessi, Marie-Christine, Ankri, Annick, Bauters, Anne, Bayart, Sophie, Cornillet-Lefebvre, Pascale, Daliphard, Sylvie, Mozziconacci, Marie-Joelle, Renneville, Aline, Ballerini, Paola, Leverger, Guy, Sobol, Hagay, Jonveaux, Philippe, Preudhomme, Claude, Nurden, Paquita, Lecompte, Thomas, Favier, Remi
Publicado no Orphanet J Rare Dis (2016)

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

Por Saultier, Paul, Vidal, Léa, Canault, Matthias, Bernot, Denis, Falaise, Céline, Pouymayou, Catherine, Bordet, Jean-Claude, Saut, Noémie, Rostan, Agathe, Baccini, Véronique, Peiretti, Franck, Favier, Marie, Lucca, Pauline, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Morange, Pierre Emmanuel, Gachet, Christian, Malergue, Fabrice, Fauré, Sixtine, Eckly, Anita, Trégouët, David-Alexandre, Poggi, Marjorie, Alessi, Marie-Christine
Publicado no Haematologica (2017)

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34(+) progenitors

Por Poggi, Marjorie, Canault, Matthias, Favier, Marie, Turro, Ernest, Saultier, Paul, Ghalloussi, Dorsaf, Baccini, Veronique, Vidal, Lea, Mezzapesa, Anna, Chelghoum, Nadjim, Mohand-Oumoussa, Badreddine, Falaise, Céline, Favier, Rémi, Ouwehand, Willem H., Fiore, Mathieu, Peiretti, Franck, Morange, Pierre Emmanuel, Saut, Noémie, Bernot, Denis, Greinacher, Andreas, BioResource, NIHR, Nurden, Alan T., Nurden, Paquita, Freson, Kathleen, Trégouët, David-Alexandre, Raslova, Hana, Alessi, Marie-Christine
Publicado no Haematologica (2017)