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Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques.
Hashemi Soteh M, Peake IR, Marsden L, Anson J, Batlle J, Meyer D, Fressinaud E, Mazurier C, Goudemand J, Eikenboom J, Goodeve A; MCMDM-1VWD Study Group. Hashemi Soteh M, et al. Among authors: fressinaud e. Haematologica. 2007 Apr;92(4):550-3. doi: 10.3324/haematol.10606. Haematologica. 2007. PMID: 17488667 Free article.
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.
Castaman G, Lethagen S, Federici AB, Tosetto A, Goodeve A, Budde U, Batlle J, Meyer D, Mazurier C, Fressinaud E, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Pasi J, Hill F, Peake I, Rodeghiero F. Castaman G, et al. Among authors: fressinaud e. Blood. 2008 Apr 1;111(7):3531-9. doi: 10.1182/blood-2007-08-109231. Epub 2008 Jan 29. Blood. 2008. PMID: 18230755 Free article. Clinical Trial.
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.
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.
103 results