Authors:
Mazurier, C
Goudemand, J
Hilbert, L
Caron, C
Fressinaud, E
Meyer, D
Citation: C. Mazurier et al., Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology, BEST P R C, 14(2), 2001, pp. 337-347
Authors:
Meyer, D
Fressinaud, E
Hilbert, L
Ribba, AS
Lavergne, JM
Mazurier, C
Citation: D. Meyer et al., Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function, BEST P R C, 14(2), 2001, pp. 349-364
Authors:
Goodeve, AC
Eikenboom, JCJ
Ginsburg, D
Hilbert, L
Mazurier, C
Peake, IR
Sadler, JE
Rodeghiero, F
Citation: Ac. Goodeve et al., A standard nomenclature for von Willebrand factor gene mutations and polymorphisms, THROMB HAEM, 85(5), 2001, pp. 929-931
Authors:
Giansily-Blaizot, M
Aguilar-Martinez, P
Mazurier, C
Cneude, F
Goudemand, J
Schved, JF
de Martinville, B
Citation: M. Giansily-blaizot et al., Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis, BR J HAEM, 112(1), 2001, pp. 251-252
Authors:
Ribba, AS
Hilbert, L
Lavergne, JM
Fressinaud, E
Boyer-Neumann, C
Ternisien, C
Juhan-Vague, I
Goudemand, J
Girma, JP
Mazurier, C
Meyer, D
Citation: As. Ribba et al., The arginine-552-cysteine (R1315C) mutation within the Al loop of von Willebrand factor induces an abnormal folding with a loss of function resultingin type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor, BLOOD, 97(4), 2001, pp. 952-959
Authors:
Hilbert, L
Jenkins, PV
Gaucher, C
Meriane, E
Collins, PW
Pasi, KJ
Mazurier, C
Citation: L. Hilbert et al., Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor, THROMB HAEM, 84(2), 2000, pp. 188-194
Authors:
Vanhoorelbeke, K
Cauwenberghs, N
Vauterin, S
Schlammadinger, A
Mazurier, C
Deckmyn, H
Citation: K. Vanhoorelbeke et al., A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor, THROMB HAEM, 83(1), 2000, pp. 107-113
Authors:
Lacquemant, C
Gaucher, C
Delorme, C
Chatellier, G
Gallois, Y
Rodier, M
Passa, P
Balkau, B
Mazurier, C
Marre, M
Froguel, P
Citation: C. Lacquemant et al., Association between high von Willebrand factor levels and the Thr789Ala VWF gene polymorphism but not with nephropathy in type 1 diabetes, KIDNEY INT, 57(4), 2000, pp. 1437-1443
Authors:
Favier, R
Lavergne, JM
Costa, JM
Garon, C
Mazurier, C
Viemont, M
Delpech, M
Valleix, S
Citation: R. Favier et al., Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female, BLOOD, 96(13), 2000, pp. 4373-4375
Authors:
Jorieux, S
Fressinaud, E
Goudemand, J
Gaucher, C
Meyer, D
Mazurier, C
Citation: S. Jorieux et al., Conformational changes in the D ' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment, BLOOD, 95(10), 2000, pp. 3139-3145
Authors:
Gilles, JGG
Lavend'homme, R
Peerlinck, K
Jacquemin, MG
Hoylaerts, M
Jorieux, S
Mazurier, C
Vermylen, J
Saint-Remy, JMR
Citation: Jgg. Gilles et al., Some factor VIII (FVIII) inhibitors recognise a FVIII epitope(s) that is present only on FVIII-vWF complexes, THROMB HAEM, 82(1), 1999, pp. 40-45
Authors:
Celie, PHN
van Stempvoort, G
Jorieux, S
Mazurier, C
van Mourik, JA
Mertens, K
Citation: Phn. Celie et al., Substitution of Arg(527) and Arg(531) in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function, BR J HAEM, 106(3), 1999, pp. 792-800
Authors:
Hilbert, L
Gaucher, C
Abgrall, JF
Parquet, A
Trzeciak, C
Mazurier, C
Citation: L. Hilbert et al., Identification of new type 2B von Willebrand disease mutations: Arg543Gln,Arg545Pro and Arg578Leu, BR J HAEM, 103(3), 1998, pp. 877-884
Authors:
Jorieux, S
Gaucher, C
Goudemand, J
Mazurier, C
Citation: S. Jorieux et al., A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization, BLOOD, 92(12), 1998, pp. 4663-4670