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C. Mazurier · SciRah

Researcher profile · Semantic Scholar

C. Mazurier

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C. Mazurier — researcher profile on SciRah

h-index: 42
Works: 164
Citations: 7,649

Most-cited papers

Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor
J. Sadler, U. Budde, J. Eikenboom, E. Favaloro +17 more
2006Journal of Thrombosis and Haemostasis1,179 citations Open access
Semantic Scholar
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD)
A. Tosetto, F. Rodeghiero, G. Castaman, A. Goodeve +17 more
2006Journal of Thrombosis and Haemostasis558 citations Open access
Semantic Scholar
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).
A. Goodeve, J. Eikenboom, G. Castaman, F. Rodeghiero +20 more
2007Blood413 citations Open access
Semantic Scholar
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
S. Antonarakis, J. Rossiter, M. Young, J. Horst +62 more
1995Blood368 citations Open access
Semantic Scholar
Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study.
A. Federici, C. Mazurier, E. Berntorp, Christine A. Lee +7 more
2004Blood236 citations Open access
Semantic Scholar
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.
G. Castaman, S. Lethagen, A. Federici, A. Tosetto +17 more
2008Blood210 citations Open access
Semantic Scholar
Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).
S. Haberichter, G. Castaman, U. Budde, I. Peake +17 more
2008Blood184 citations Open access
Semantic Scholar
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM‐1VWD)
U. Budde, R. Schneppenheim, J. Eikenboom, A. Goodeve +18 more
2008Journal of Thrombosis and Haemostasis179 citations Open access
Semantic Scholar
Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD
J. Eikenboom, V. van Marion, H. Putter, A. Goodeve +17 more
2006Journal of Thrombosis and Haemostasis140 citations Open access
Semantic Scholar
Gene Defects in 150 Unrelated French Cases with Type 2 von Willebrand Disease: from the Patient to the Gene
D. Meyer, É. Fressinaud, C. Gaucher, J. Lavergne +4 more
1997Thrombosis and Haemostasis125 citations
Semantic Scholar
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology.
C. Mazurier, J. Goudemand, L. Hilbert, C. Caron +2 more
2001Baillière's Best Practice & Research: Clinical Haematology124 citations
Semantic Scholar
A Reliable and Reproducible ELISA Method to Measure Ristocetin Cofactor Activity of von Willebrand Factor
K. Vanhoorelbeke, Nancy Cauwenberghs, S. Vauterin, Á. Schlammadinger +2 more
2000Thrombosis and Haemostasis111 citations
Semantic Scholar
Biological effect of desmopressin in eight patients with type 2n (‘Normandy’) von Willebrand disease
C. Mazurier, C. Gaucher, S. Jorieux, M. Goudemand
1994British Journal of Haematology94 citations
Semantic Scholar
Lactotransferrin binding to its platelet receptor inhibits platelet aggregation.
B. Leveugle, J. Mazurier, D. Legrand, C. Mazurier +2 more
1993European Journal of Biochemistry92 citations
Semantic Scholar
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
L. Hilbert, C. Gaucher, C. Mazurier
1995Blood77 citations
Semantic Scholar
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM‐1VWD study
J. Eikenboom, L. Hilbert, A. Ribba, A. Hommais +24 more
2009Journal of Thrombosis and Haemostasis68 citations Open access
Semantic Scholar
Factor VIII Binding Assay of von Willebrand Factor and the Diagnosis of Type 2N von Willebrand Disease -Results of an International Survey
C. Mazurier, D. Meyer
1996Thrombosis and Haemostasis68 citations
Semantic Scholar
Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.
L. Hilbert, C. Gaucher, C. de Romeuf, M. Horellou +2 more
1994Blood62 citations
Semantic Scholar
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.
S. Jorieux, É. Fressinaud, Jenny Goudemand, C. Gaucher +2 more
2000Blood61 citations
Semantic Scholar
Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1VWD)
A. Tosetto, F. Rodeghiero, G. Castaman, M. Bernardi +18 more
2007Journal of Thrombosis and Haemostasis60 citations Open access
Semantic Scholar
Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function.
Dominique Meyer, É. Fressinaud, L. Hilbert, A. Ribba +2 more
2001Baillière's Best Practice & Research: Clinical Haematology52 citations
Semantic Scholar
Association between high von Willebrand factor levels and the Thr789Ala vWF gene polymorphism but not with nephropathy in type I diabetes
C. Lacquemant, C. Gaucher, C. Delorme, G. Chatellier +7 more
200048 citations Open access
Semantic Scholar
The impact of bleeding history, von Willebrand factor and PFA–100® on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM‐1VWD
G. Castaman, A. Tosetto, A. Goodeve, Augusto B. Federici +13 more
2010British Journal of Haematology47 citations Open access
Semantic Scholar
Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.
C. Gaucher, Jocelyne Dieval, C. Mazurier
1994Blood47 citations Open access
Semantic Scholar
Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents
C. Caron, C. Mazurier, J. Goudemand
2002British Journal of Haematology45 citations
Semantic Scholar
A Standard Nomenclature for von Willebrand Factor Gene Mutations and Polymorphisms
A. Goodeve, J. Eikenboom, D. Ginsburg, L. Hilbert +4 more
2001Thrombosis and Haemostasis45 citations
Semantic Scholar
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII‐binding capacity
L. Hilbert, S. Jorieux, V. Proulle, R. Favier +5 more
2003British Journal of Haematology44 citations
Semantic Scholar
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.
Rémi Favier, J. Lavergne, J. Costa, C. Caron +4 more
2000Blood44 citations
Semantic Scholar
A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
S. Jorieux, C. Gaucher, J. Goudemand, C. Mazurier
1998Blood43 citations
Semantic Scholar
MUTATIONS IN THE FVIII GENE IN SEVEN FAMILIES WITH MILD HAEMOPHILIA A
C. Mazurier, C. Gaucher, S. Jorieux, A. Parquet‐Gernez
1997British Journal of Haematology41 citations Open access
Semantic Scholar
Some Factor VIII (FVIII) Inhibitors Recognise a FVIII Epitope(s) that Is Present only on FVIII-vWF Complexes
J. Gilles, R. Lavend'homme, K. Peerlinck, M. Jacquemin +5 more
1999Thrombosis and Haemostasis38 citations
Semantic Scholar
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
L. Hilbert, P. Nurden, C. Caron, A. Nurden +4 more
2006Thrombosis and Haemostasis37 citations
Semantic Scholar
Molecular Genetics of Type 2 von Willebrand Disease
É. Fressinaud, C. Mazurier, D. Meyer
2002International journal of hematology37 citations
Semantic Scholar
von Willebrand disease: laboratory aspects of diagnosis and treatment
E. Favaloro, D. Lillicrap, M. Lazzari, Marco Cattaneo +7 more
2004Haemophilia36 citations
Semantic Scholar
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.
A. Ribba, L. Hilbert, J. Lavergne, É. Fressinaud +7 more
2001Blood36 citations
Semantic Scholar
Comparison between von Willebrand Factor (VWF) and VWF Antigen II in Normal Individuals and Patients with von Willebrand Disease
C. de Romeuf, C. Mazurier
1998Thrombosis and Haemostasis35 citations
Semantic Scholar
Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease
C. Gaucher, J. Dieval, C. Mazurier
199435 citations Open access
Semantic Scholar
A solvent/detergent‐treated and 15‐nm filtered factor VIII: a new safety standard for plasma‐derived coagulation factor concentrates
S. Chtourou, P. Porte, M. Nogré, N. Bihoreau +5 more
2007Vox Sanguinis29 citations
Semantic Scholar
In vitro study of a triple‐secured von Willebrand factor concentrate
C. Mazurier, M. Poulle, B. Samor, L. Hilbert +1 more
2004Vox Sanguinis29 citations
Semantic Scholar
Fine epitope mapping of monoclonal antibodies to the NH2‐terminal part of von Willebrand factor (vWF) by using recombinant and synthetic peptides: interest for the localization of the factor VIII binding domain
S. Jorieux, C. Gaucher, Geneviégve Piéatu, Ghislaine Chéarel +2 more
1994British Journal of Haematology28 citations
Semantic Scholar
Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function
P. Celie, G. van Stempvoort, S. Jorieux, C. Mazurier +2 more
1999British Journal of Haematology27 citations
Semantic Scholar
Type 2M vWD Resulting from a Lysine Deletion within a Four Lysine Residue Repeat in the A1 Loop of von Willebrand Factor
L. Hilbert, P. Jenkins, C. Gaucher, E. Meriane +3 more
2000Thrombosis and Haemostasis26 citations
Semantic Scholar
Association between high von willebrand factor levels and the Thr789Ala vWF gene polymorphism but not with nephropathy in type I diabetes. The GENEDIAB Study Group and the DESIR Study Group.
C. Lacquemant, C. Gaucher, C. Delorme, G. Chatellier +7 more
2000Kidney International26 citations
Semantic Scholar
Platelet Activation and Aggregation Induced by Recombinant von Willebrand Factors Reproducing Four Type 2B von Willebrand Disease Missense Mutations
C. de Romeuf, L. Hilbert, C. Mazurier
1998Thrombosis and Haemostasis25 citations
Semantic Scholar
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.
Mohammad Hashemi Soteh, I. Peake, L. Marsden, J. Anson +7 more
2007Haematologica23 citations Open access
Semantic Scholar
Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion
A. Hommais, A. Stépanian, É. Fressinaud, C. Mazurier +3 more
2006Journal of Thrombosis and Haemostasis22 citations Open access
Semantic Scholar
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency
F. Quélin, F. Mathonnet, C. Potentini-Esnault, N. Trigui +7 more
2006Blood Coagulation and Fibrinolysis22 citations
Semantic Scholar
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
R. Favier, J. Lavergne, Jean-marc Costa, C. Caron +4 more
200022 citations
Semantic Scholar
Effects of different amino‐acid substitutions in the leucine 694‐proline 708 segment of recombinant von Willebrand factor
L. Hubert, C. Gaucher, C. Mazurier
1995British Journal of Haematology22 citations
Semantic Scholar
Type 2N von Willebrand disease.
C. Mazurier, L. Hilbert
2005Current hematology reports21 citations
Semantic Scholar

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C. Gaucher×15
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C. Gaucher — researcher profile on SciRah
L. Hilbert×15
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L. Hilbert — researcher profile on SciRah
D. Meyer×13
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D. Meyer — researcher profile on SciRah
É. Fressinaud×13
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É. Fressinaud — researcher profile on SciRah

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J. Eikenboom — researcher profile on SciRah

J. Goudemand×12

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J. Goudemand — researcher profile on SciRah

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A. Federici — researcher profile on SciRah

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G. Castaman — researcher profile on SciRah

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D. Habart — researcher profile on SciRah

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S. Lethagen — researcher profile on SciRah

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S. Jorieux — researcher profile on SciRah

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I. Peake — researcher profile on SciRah