XXXIII Congreso Nacional de la Sociedad Española de Trombosis y Hemostasia

XXXIII Congreso Nacional de la Sociedad Española de Trombosis y Hemostasia 102 Martínez, José Padilla, Nerea Mota, Isabel Sánchez-Guiu, Eva-Ca- parrós, Neil Morgan, SteveWatson yWolfgang Bergmeier, la ayu- da prestada en los estudios de los pacientes. Los estudios de HTS en la mayoría de enfermos se ha realizado en estrecha colaboración con los Dres. José María Bastida, José R. González Porras, Jesús M. Hernández Rivas y todo su equipo, del Servicio de Hematolo- gía, IBSAL-Hospital Universitario de Salamanca, Salamanca. La investigación del grupo de está respaldada por ayudas del Instituto de Salud Carlos III y Feder (PI14 / 01956 y CB15 / 00055). Bibliografía 1. Bolton-Maggs PH, Chalmers EA, Collins PW, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 2006;135(5):603-33. 2. Sánchez-Guiu I, Antón AI, Padilla J, et al. Functional and molec- ular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. Orphanet J Rare Dis 2014;9:213. 3. Balduini CL, Noris P. Inherited thrombocytopenias. Hematology 2015;20(6):374-5. 4. Sivapalaratnam S, Collins J, Gomez K. Diagnosis of inherited bleed- ing disorders in the genomic era. Br J Haematol 2017 DOI: 10.1111/ bjh.14796. Epub ahead of print. 5. Nurden AT, Nurden P. Congenital platelet disorders and understand- ing of platelet function. Br J Haematol 2014;165(2):165-78. 6. Gresele P. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost 2015;13(2):314-22. 7. Gresele P, Bury L, Falcinelli E. Inherited Platelet Function Disor- ders: Algorithms for Phenotypic and Genetic Investigation. Semin Thromb Hemost 2016;42(3):292-305. 8. Watson SP, Lowe GC, Lordkipanidze M, Morgan NV. Genotyping and phenotyping of platelet function disorders. J Thromb Haemost 2013;11(1):351-63. 9. Sikkema-Raddatz B, Johansson LF, de Boer EN, et al. Targeted next-generation sequencing can replace Sanger sequencing in clin- ical diagnostics. Hum Mutat 2013;34(7):1035-42. 10. Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH. Inherited platelet disorders: toward DNA-based diagnosis. Blood 2016;127(23):2814-23. 11. Balduini CL, Melazzini F. Research at the heart of hematology: thrombocytopenias and platelet function disorders. Haematologica 2017;102(2):203-5. 12. Bastida JM, Lozano ML, Benito R, et al. Introducing high-through- put sequencing into mainstream of genetic diagnosis practice in inherited platelet disorders. 2017 (under review). 13. Bianchi E, Norfo R, Pennucci V, Zini R, Manfredini R. Genomic landscape of megakaryopoiesis and platelet function defects. Blood 2016;127(10):1249-59. 14. Daly ME, Leo VC, Lowe GC, Watson SP, Morgan NV. What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? Br J Haematol 2014;165(2):193-203. 15. Johnson B, Lowe GC, Futterer J, et al.Whole exome sequencing iden- tifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica 2016;101(10):1170-9. 16. Savoia A. Molecular basis of inherited thrombocytopenias: an update. Curr Opin Hematol 2016;23(5):486-92. 17. Simeoni I, Stephens JC, Hu F, et al. A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet dis- orders. Blood 2016;127(23):2791-803. 18. Westbury SK, Mumford AD. Genomics of platelet disorders. Hae- mophilia 2016;22(5):20-4. 19. Sánchez-Guiu I, Antón AI, García-Barbera N, et al. Che- diak-Higashi syndrome: description of two novel homozy- gous missense mutations causing divergent clinical pheno- type. Eur J Haematol 2014;92(1):49-58. 20. Sánchez-Guiu I, Torregrosa JM, Velasco F, et al. Hermans- ky-Pudlak syndrome. Overview of clinical and molecular fea- tures and case report of a new HPS-1 variant. Hamostaseologie 2014;34(4):301-9. 21. Lozano ML, Cook A, Bastida JM, et al. Novel mutations in RAS- GRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. Blood 2016;128(9):1282-9.