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Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.
Fiore M, Giraudet JS, Alessi MC, Falaise C, Desprez D, d'Oiron R, Voisin S, Hurtaud MF, Boutroux H, Saultier P, Lavenu-Bombled C, Bagou G, Dubucs X, Chauvin A, Leroy C, Meckert F, Kerbaul F, Giraud N, Pühler A, Rath A. Fiore M, et al. Among authors: lavenu bombled c. Orphanet J Rare Dis. 2023 Jun 29;18(1):171. doi: 10.1186/s13023-023-02787-2. Orphanet J Rare Dis. 2023. PMID: 37386449 Free PMC article. Review.
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Savoia A, et al. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Fiore M, De Thoré C, Randrianaivo-Ranjatoelina H, Baas MJ, Jacquemont ML, Dreyfus M, Lavenu-Bombled C, Li R, Gachet C, Dupuis A, Lanza F. Fiore M, et al. Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30. Br J Haematol. 2020. PMID: 31997307 Free PMC article. No abstract available.
Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.
Civaschi E, Klersy C, Melazzini F, Pujol-Moix N, Santoro C, Cattaneo M, Lavenu-Bombled C, Bury L, Minuz P, Nurden P, Cid AR, Cuker A, Latger-Cannard V, Favier R, Nichele I, Noris P; European Haematology Association - Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. Civaschi E, et al. Br J Haematol. 2015 Aug;170(4):559-63. doi: 10.1111/bjh.13458. Epub 2015 Apr 21. Br J Haematol. 2015. PMID: 25899604 Free article. Clinical Trial.
36 results