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Page 1
Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein.
Legendre P, Navarrete AM, Rayes J, Casari C, Boisseau P, Ternisien C, Caron C, Fressinaud E, Goudemand J, Veyradier A, Denis CV, Lenting PJ, Christophe OD. Legendre P, et al. Among authors: fressinaud e. Blood. 2013 Mar 14;121(11):2135-43. doi: 10.1182/blood-2012-09-456038. Epub 2013 Jan 18. Blood. 2013. PMID: 23335371 Free article.
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A, Boisseau P, Fressinaud E, Caron C, Ternisien C, Giraud M, Zawadzki C, Trossaert M, Itzhar-Baïkian N, Dreyfus M, d'Oiron R, Borel-Derlon A, Susen S, Bezieau S, Denis CV, Goudemand J; French Reference Center for von Willebrand disease. Veyradier A, et al. Among authors: fressinaud e. Medicine (Baltimore). 2016 Mar;95(11):e3038. doi: 10.1097/MD.0000000000003038. Medicine (Baltimore). 2016. PMID: 26986123 Free PMC article.
Laboratory diagnosis of von Willebrand disease.
Veyradier A, Fressinaud E, Meyer D. Veyradier A, et al. Among authors: fressinaud e. Int J Clin Lab Res. 1998;28(4):201-10. doi: 10.1007/s005990050046. Int J Clin Lab Res. 1998. PMID: 9879492 Review.
The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
Ribba AN, Hilbert L, Lavergne JM, Fressinaud E, Boyer-Neumann C, Ternisien C, Juhan-Vague I, Goudemand J, Girma J, Mazurier C, Meyer D. Ribba AN, et al. Among authors: fressinaud e. Blood. 2001 Feb 15;97(4):952-9. doi: 10.1182/blood.v97.4.952. Blood. 2001. PMID: 11159522 Free article.
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: fressinaud e. 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.
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
Hilbert L, Nurden P, Caron C, Nurden AT, Goudemand J, Meyer D, Fressinaud E, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease. Hilbert L, et al. Among authors: fressinaud e. Thromb Haemost. 2006 Sep;96(3):290-4. doi: 10.1160/TH06-03-0157. Thromb Haemost. 2006. PMID: 16953269
von Willebrand factor mutation promotes thrombocytopathy by inhibiting integrin αIIbβ3.
Casari C, Berrou E, Lebret M, Adam F, Kauskot A, Bobe R, Desconclois C, Fressinaud E, Christophe OD, Lenting PJ, Rosa JP, Denis CV, Bryckaert M. Casari C, et al. Among authors: fressinaud e. J Clin Invest. 2013 Dec;123(12):5071-81. doi: 10.1172/JCI69458. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270421 Free PMC article.
A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.
Rauch A, Caron C, Vincent F, Jeanpierre E, Ternisien C, Boisseau P, Zawadzki C, Fressinaud E, Borel-Derlon A, Hermoire S, Paris C, Lavenu-Bombled C, Veyradier A, Ung A, Vincentelli A, van Belle E, Lenting PJ, Goudemand J, Susen S. Rauch A, et al. Among authors: fressinaud e. Thromb Haemost. 2016 May 2;115(5):950-9. doi: 10.1160/TH15-08-0638. Epub 2016 Jan 21. Thromb Haemost. 2016. PMID: 26791163
103 results