Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France)

af Guéguen, Paul, Chauvin, Angélique, Quémener-Redon, Sylvia, Pan-Petesch, Brigitte, Férec, Claude, Abgrall, Jean-François, Le Maréchal, Cédric
Udgivet 2012

The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (AαCys36Gly, AαCys36Arg and AαCys45Tyr) confirms the role of N-terminal Aα disulfide bond...

af Hanss, Michel, Pouymayou, Catherine, Blouch, Marie-Thérèse, Lellouche, Franck, Ffrench, Patrick, Rousson, Robert, Abgrall, Jean-François, Morange, Pierre-Emmanuel, Quélin, Florence, de Mazancourt, Philippe
Udgivet 2011

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

af Guéguen, Paul, Rouault, Karen, Chen, Jian-Min, Raguénès, Odile, Fichou, Yann, Hardy, Elisabeth, Gobin, Eric, Pan-petesch, Brigitte, Kerbiriou, Mathieu, Trouvé, Pascal, Marcorelles, Pascale, Abgrall, Jean-francois, Le Maréchal, Cédric, Férec, Claude
Udgivet 2013

A retrospective pilot evaluation of switching thrombopoietic receptor-agonists in immune thrombocytopenia

af Khellaf, Mehdi, Viallard, Jean-François, Hamidou, Mohamed, Cheze, Stéphane, Roudot-Thoraval, Françoise, Lefrere, François, Fain, Olivier, Audia, Sylvain, Abgrall, Jean-François, Michot, Jean-Marie, Dauriac, Charles, Lefort, Sophie, Gyan, Emmanuel, Niault, Mathilde, Durand, Jean-Marc, Languille, Laetitia, Boutboul, David, Bierling, Philippe, Michel, Marc, Godeau, Bertrand
Udgivet 2013