Publications by authors named "Edith Fressinaud"

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A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmö/New York" von Willebrand disease.
Cécile Lavenu-Bombled, Corinne Guitton, Arnaud Dupuis, Marie-Jeanne Baas, Céline Desconclois, Edith Fressinaud

Thromb Haemost· November 2016

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A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.
Antoine Rauch, Claudine Caron, Flavien Vincent, Emmanuelle Jeanpierre, Catherine Ternisien, Edith Fressinaud

Thromb Haemost· May 2016

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A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Agnès Veyradier, Pierre Boisseau, Edith Fressinaud, Claudine Caron, Catherine Ternisien

Medicine (Baltimore)· March 2016

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von Willebrand factor mutation promotes thrombocytopathy by inhibiting integrin αIIbβ3.
Caterina Casari, Eliane Berrou, Marilyne Lebret, Frédéric Adam, Alexandre Kauskot, Edith Fressinaud

J Clin Invest· December 2013

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Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein.
Paulette Legendre, Ana-Maria Navarrete, Julie Rayes, Caterina Casari, Pierre Boisseau, Edith Fressinaud

Blood· March 2013

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An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.
Pierre Boisseau, Mathilde Giraud, Catherine Ternisien, Agnès Veyradier, Edith Fressinaud

Haematologica· October 2011

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Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.
Giancarlo Castaman, Stefan Lethagen, Augusto B Federici, Alberto Tosetto, Anne Goodeve, Edith Fressinaud

Blood· April 2008

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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.
Mohammad Hashemi Soteh, Ian R Peake, Luke Marsden, John Anson, Javier Batlle, Edith Fressinaud

Haematologica· April 2007

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Variations in glycosylation of von Willebrand factor with O-linked sialylated T antigen are associated with its plasma levels.
Carina J M van Schooten, Cécile V Denis, Ton Lisman, Jeroen C J Eikenboom, Frank W Leebeek, Edith Fressinaud

Blood· March 2007

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Iliopsoas hematoma in patients with hemophilia: a single-center study.
Marc Dauty, Marianne Sigaud, Marc Trossaërt, Edith Fressinaud, Joseph Letenneur

Joint Bone Spine· March 2007

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Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia.
Paquita Nurden, Najet Debili, William Vainchenker, Regis Bobe, Raymonde Bredoux, Edith Fressinaud

Blood· October 2006

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Molecular misdiagnosis in type 2B von Willebrand disease.
Sebastien Schmitt, Marc Trossaert, Fabrice Airaud, Gaelle Landeau-Trottier, Patricia Talarmain, Edith Fressinaud

Am J Hematol· October 2006

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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.
Lysiane Hilbert, Paquita Nurden, Claudine Caron, Alan T Nurden, Jenny Goudemand, Edith Fressinaud

Thromb Haemost· September 2006

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Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.
Antoine Hommais, Alain Stépanian, Edith Fressinaud, Claudine Mazurier, Katia Pouymayou

Thromb Haemost· May 2006

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[Von Willebrand disease: from diagnosis to treatment].
Edith Fressinaud, Dominique Meyer

Rev Prat· December 2005

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Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
Lysiane Hilbert, Sylvie Jorieux, Valérie Proulle, Rémi Favier, Jenny Goudemand, Edith Fressinaud

Br J Haematol· February 2003

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A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.
Alain Stepanian, Anne-Sophie Ribba, Jean-Maurice Lavergne, Edith Fressinaud, Irene Juhan-Vague

Br J Haematol· February 2003

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Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti-glycoprotein IIb-IIIa antibodies.
Isabelle Martin, Fayçal Kriaa, Valérie Proulle, Benoît Guillet, Cécile Kaplan, Edith Fressinaud

Br J Haematol· December 2002

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Management of dental extractions in patients with bleeding disorders.
Benoit Piot, Marianne Sigaud-Fiks, Pascal Huet, Edith Fressinaud, Marc Trossaërt

Oral Surg Oral Med Oral Pathol Oral Radiol Endod· March 2002

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Molecular genetics of type 2 von Willebrand disease.
Edith Fressinaud, Claudine Mazurier, Dominique Meyer

Int J Hematol· January 2002

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