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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. Pennamen P, et al. Among authors: fiore m. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
First description of an IgM monoclonal antibody causing αIIb β3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia.
Pillois X, Guy A, Choquet É, James C, Tuffigo M, Viallard JF, Garcia C, Bordet JC, Jandrot-Perrus M, Payrastre B, Fiore M. Pillois X, et al. Among authors: fiore m. J Thromb Haemost. 2019 May;17(5):795-802. doi: 10.1111/jth.14424. Epub 2019 Apr 19. J Thromb Haemost. 2019. PMID: 30868743 Free article.
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise C, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, BioResource N, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC. Poggi M, et al. Among authors: fiore m. Haematologica. 2017 Feb;102(2):282-294. doi: 10.3324/haematol.2016.147694. Epub 2016 Sep 23. Haematologica. 2017. PMID: 27663637 Free PMC article.
Multicenter evaluation of light transmission platelet aggregation reagents: communication from the ISTH SSC Subcommittee on Platelet Physiology.
Alessi MC, Coxon C, Ibrahim-Kosta M, Bacci M, Voisin S, Rivera J, Greinacher A, Raster J, Pulcinelli F, Devreese KMJ, Mullier F, McCormick AN, Frontroth JP, Pouplard C, Sachs UJ, Diaz I, Bermejo N, Camera M, Fontana P, Bauters A, Stepanian A, Cozzi MR, Sveshnikova AN, Faille D, Hollon W, Chitlur M, Casonato A, Lasne D, Lavenu-Bombled C, Fiore M, Hamidou B, Hurtaud-Roux MF, Saultier P, Goumidi L, Gresele P, Lordkipanidzé M. Alessi MC, et al. Among authors: fiore m. J Thromb Haemost. 2023 Sep;21(9):2596-2610. doi: 10.1016/j.jtha.2023.05.027. Epub 2023 Jun 16. J Thromb Haemost. 2023. PMID: 37331519
1,653 results