Bibliographie
Multi-center 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. Multicenter evaluation of light transmission platelet aggregation reagents: communication from the ISTH SSC Subcommittee on Platelet Physiology. J Thromb Haemost. 2023 Sep;21(9):2596-2610. doi: 10.1016/j.jtha.2023.05.027. Epub 2023 Jun 16. PMID: 37331519.
Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia
Bigot T, Gabinaud E, Hannouche L, Sbarra V, Andersen E, Bastelica D, Falaise C, Bernot D, Ibrahim-Kosta M, Morange PE, Loosveld M, Saultier P, Payet-Bornet D, Alessi MC, Potier D, Poggi M. Single-cell analysis of megakaryopoiesis in peripheral CD34+ cells: insights into ETV6-related thrombocytopenia. J Thromb Haemost. 2023 Sep;21(9):2528-2544. doi: 10.1016/j.jtha.2023.04.007. Epub 2023 Apr 20. PMID: 37085035.
Proteomic landscapes of inherited platelet disorders with different etiologies
Kreft IC, Huisman EJ, Cnossen MH, van Alphen FPJ, van der Zwaan C, van Leeuwen K, van Spaendonk R, Porcelijn L, Veen CSB, van den Biggelaar M, de Haas M, Meijer AB, Hoogendijk AJ. Proteomic landscapes of inherited platelet disorders with different etiologies. J Thromb Haemost. 2023 Feb;21(2):359-372.e3. doi: 10.1016/j.jtha.2022.11.021. Epub 2022 Dec 22. PMID: 36700500.
Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations
Homan CC, Scott HS, Brown AL. Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26. Blood. 2023 Mar 30;141(13):1533-1543. doi: 10.1182/blood.2022017735. PMID: 36626254.
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
Van Laer C, Jacquemin M, Baert S, Labarque V, Thys C, Vanassche T, Van Geet C, Verhamme P, Willekens K, Corveleyn A, Peerlinck K, Freson K. Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience. J Thromb Haemost. 2023 Apr;21(4):887-895. doi: 10.1016/j.jtha.2022.12.007. Epub 2022 Dec 22. PMID: 36696193..
The identification of giant platelets with disorganized granules can suggest ACTB gene mutation
Fouassier M, Isidor B, Cogne B, Béné MC, Eveillard M. The identification of giant platelets with disorganized granules can suggest ACTB gene mutation. Int J Lab Hematol. 2023 Jun;45(3):e68-e70. doi: 10.1111/ijlh.14011. Epub 2022 Dec 23. PMID: 36564926.
How I manage pregnancy in women with Glanzmann thrombasthenia.
Fiore M, Sentilhes L, d’Oiron R. How I manage pregnancy in women with Glanzmann thrombasthenia. Blood. 2022;139(17):2632-2641. doi:10.1182/blood.2021011595
Treatment of inherited thrombocytopenias
Balduini CL. Treatment of inherited thrombocytopenias. Haematologica 2022;107(6):1278-1292; https://doi.org/10.3324/haematol.2022.280856.
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis
Saultier P, Cabantous S, Puceat M, et al. GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis. J Thromb Haemost. 2021;19(9):2287-2301. doi:10.1111/jth.15412
Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders.
Alessi MC, Sié P, Payrastre B. Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders. J Clin Med. 2020;9(3):763. Published 2020 Mar 12. doi:10.3390/jcm9030763
Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction
Ibrahim-Kosta M, Alessi MC, Hezard N. Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction. Hamostaseologie. 2020;40(4):444-459. doi:10.1055/a-1223-3306