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Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
Hilbert L, Jorieux S, Proulle V, Favier R, Goudemand J, Parquet A, Meyer D, Fressinaud E, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease. Hilbert L, et al. Among authors: favier r. Br J Haematol. 2003 Feb;120(4):627-32. doi: 10.1046/j.1365-2141.2003.04163.x. Br J Haematol. 2003. PMID: 12588349 Free article.
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. Among authors: favier r. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
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. Among authors: favier r. 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.
Assessing bleeding risk in 18 children with Osteogenesis imperfecta.
Léguillier T, Favier R, Harroche A, Lasne D, Bachelot-Loza C, Borgel D, Boussaroque A, Pascreau T, Lallemant-Dudek P, Gkalea V, Haguet MC, Cormier-Daire V, Beaudeux JL, Monnot S, Lapillonne H, Baujat G, Forin V, Nivet-Antoine V. Léguillier T, et al. Among authors: favier r. Br J Haematol. 2021 Feb;192(4):785-788. doi: 10.1111/bjh.17303. Epub 2021 Jan 21. Br J Haematol. 2021. PMID: 33475155 No abstract available.
Newly recognized cellular abnormalities in the gray platelet syndrome.
Drouin A, Favier R, Massé JM, Debili N, Schmitt A, Elbim C, Guichard J, Adam M, Gougerot-Pocidalo MA, Cramer EM. Drouin A, et al. Among authors: favier r. Blood. 2001 Sep 1;98(5):1382-91. doi: 10.1182/blood.v98.5.1382. Blood. 2001. PMID: 11520786 Free article.
275 results