L. Hilbert

发表

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.

C. Mazurier, C. Gaucher, L. Hilbert, 1995, Blood.

Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study.

P. Mannucci, Christine A. Lee, J. Goudemand, 2004, Blood.

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM‐1VWD study

J. Goudemand, S. Lethagen, J. Eikenboom, 2009, Journal of Thrombosis and Haemostasis.

Identification of a New Type 2M von Willebrand Disease Mutation also at Position 1324 of von Willebrand Factor

É. Fressinaud, C. Mazurier, D. Meyer, 2002, Thrombosis and Haemostasis.

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.

J. Goudemand, J. Lavergne, É. Fressinaud, 2001, Blood.

Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology.

J. Goudemand, É. Fressinaud, C. Mazurier, 2001, Best practice & research. Clinical haematology.

Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function.

J. Lavergne, É. Fressinaud, C. Mazurier, 2001, Best practice & research. Clinical haematology.

Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII‐binding capacity

R. Favier, J. Goudemand, É. Fressinaud, 2003, British journal of haematology.

Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibα in an enzyme‐linked immunosorbent assay‐based method: performances in patients with type 2B von Willebrand disease

J. Goudemand, H. Deckmyn, C. Mazurier, 2006, British journal of haematology.

First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene

R. d'Oiron, É. Fressinaud, C. Mazurier, 2004, Journal of thrombosis and haemostasis : JTH.

Gene Defects in 150 Unrelated French Cases with Type 2 von Willebrand Disease: from the Patient to the Gene

J. Lavergne, É. Fressinaud, C. Mazurier, 1997, Thrombosis and Haemostasis.

A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.

A. Federici, C. Mazurier, L. Baronciani, 2004, Haematologica.

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

P. Nurden, J. Goudemand, É. Fressinaud, 2006, Thrombosis and Haemostasis.

Type 2N von Willebrand disease.

C. Mazurier, L. Hilbert, 2005, Current hematology reports.

In vitro study of a triple‐secured von Willebrand factor concentrate

B. Samor, S. Chtourou, C. Mazurier, 2004, Vox sanguinis.

Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene

É. Fressinaud, C. Mazurier, S. Jorieux, 2004, British journal of haematology.

A Standard Nomenclature for von Willebrand Factor Gene Mutations and Polymorphisms

J. Eikenboom, D. Ginsburg, F. Rodeghiero, 2001, Thrombosis and Haemostasis.

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.

T. Vink, C. Mazurier, C. Gaucher, 1994, Blood.

Platelet Activation and Aggregation Induced by Recombinant von Willebrand Factors Reproducing Four Type 2B von Willebrand Disease Missense Mutations

C. Mazurier, L. Hilbert, C. de Romeuf, 1998, Thrombosis and Haemostasis.

Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu

J. Abgrall, A. Parquet, C. Mazurier, 1998, British journal of haematology.

Type 2M vWD Resulting from a Lysine Deletion within a Four Lysine Residue Repeat in the A1 Loop of von Willebrand Factor

K. Pasi, P. Collins, C. Mazurier, 2000, Thrombosis and Haemostasis.

Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study.

P. Mannucci, Christine A. Lee, J. Goudemand, 2004, Blood.

Clinical Observations, Interventions, and Therapeutic Trials

P. Mannucci, Christine A. Lee, J. Goudemand, 2000 .