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, Lysiane, Nurden, Paquita, Caron, Claudine, Nurden, Alan T, Goudemand, Jenny, Meyer, Dominique, Fressinaud, Edith, Mazurier, Claudine
Published in Thrombosis and haemostasis (01.09.2006)
Published in Thrombosis and haemostasis (01.09.2006)
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Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
Mazurier, Claudine, Goudemand, Jenny, Hilbert, Lysiane, Caron, Claudine, Fressinaud, Edith, Meyer, Dominique
Published in Best practice & research. Clinical haematology (01.06.2001)
Published in Best practice & research. Clinical haematology (01.06.2001)
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Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study
Federici, Augusto B., Mazurier, Claudine, Berntorp, Erik, Lee, Christine A., Scharrer, Inge, Goudemand, Jenny, Lethagen, Stephan, Nitu, Ioana, Ludwig, Gerard, Hilbert, Lysiane, Mannucci, Pier M.
Published in Blood (15.03.2004)
Published in Blood (15.03.2004)
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Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ib[alpha] in an enzyme-linked immunosorbent assay-based method: performances in patients with type 2B von Willebrand disease
Caron, Claudine, Hilbert, Lysiane, Vanhoorelbeke, Karen, Deckmyn, Hans
Published in British journal of haematology (01.06.2006)
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Published in British journal of haematology (01.06.2006)
Journal Article
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
Caron, Claudine, Hilbert, Lysiane, Vanhoorelbeke, Karen, Deckmyn, Hans, Goudemand, Jenny, Mazurier, Claudine
Published in British journal of haematology (01.06.2006)
Published in British journal of haematology (01.06.2006)
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Journal Article
Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immunosorbent assay-based method: performances in patients with type 2B von Willebrand disease
Caron, Claudine, Hilbert, Lysiane, Vanhoorelbeke, Karen, Deckmyn, Hans, Goudemand, Jenny, Mazurier, Claudine
Published in British journal of haematology (01.06.2006)
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Published in British journal of haematology (01.06.2006)
Journal Article
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII‐binding capacity
Hilbert, Lysiane, Jorieux, Sylvie, Proulle, Valérie, Favier, Rémi, Goudemand, Jenny, Parquet, Armelle, Meyer, Dominique, Fressinaud, Edith, Mazurier, Claudine
Published in British journal of haematology (01.02.2003)
Published in British journal of haematology (01.02.2003)
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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, Anne-Sophie, HILBERT, Lysiane, MEYER, Dominique, LAVERGNE, Jean-Maurice, FRESSINAUD, Edith, BOYER-NEUMANN, Catherine, TERNISIEN, Catherine, JUHAN-VAGUE, Irène, GOUDEMAND, Jenny, GIRMA, Jean-Pierre, MAZURIER, Claudine
Published in Blood (15.02.2001)
Published in Blood (15.02.2001)
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Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function
Meyer, Dominique, Fressinaud, Edith, Hilbert, Lysiane, Ribba, Anne-Sophie, Lavergne, Jean-Maurice, Mazurier, Claudine
Published in Best practice & research. Clinical haematology (01.06.2001)
Published in Best practice & research. Clinical haematology (01.06.2001)
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Journal Article
Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease
Hilbert, L, Gaucher, C, de Romeuf, C, Horellou, MH, Vink, T, Mazurier, C
Published in Blood (15.03.1994)
Published in Blood (15.03.1994)
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