Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene

Por Thomas, Anne, Ivaškevičius, Vytautas, Zawadzki, Christophe, Goudemand, Jenny, Biswas, Arijit, Oldenburg, Johannes
Publicado no Hum Genome Var (2016)

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD c...

Por Hampshire, Daniel J., Burghel, George J., Goudemand, Jenny, Bouvet, Laura C. S., Eikenboom, Jeroen C. J., Schneppenheim, Reinhard, Budde, Ulrich, Peake, Ian R., Goodeve, Anne C.
Publicado em 2010

Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A

Por Calvez, Thierry, Chambost, Hervé, d’Oiron, Roseline, Dalibard, Vincent, Demiguel, Virginie, Doncarli, Alexandra, Gruel, Yves, Huguenin, Yoann, Lutz, Patrice, Rothschild, Chantal, Vinciguerra, Christine, Goudemand, Jenny
Publicado no Haematologica (2018)

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance

Por Mufti, Ahmad H., Ogiwara, Kenichi, Swystun, Laura L., Eikenboom, Jeroen C. J., Budde, Ulrich, Hopman, Wilma M., Halldén, Christer, Goudemand, Jenny, Peake, Ian R., Goodeve, Anne C., Lillicrap, David, Hampshire, Daniel J.
Publicado no Blood Adv (2018)

VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease

Por Eikenboom, Jeroen, Federici, Augusto B., Dirven, Richard J., Castaman, Giancarlo, Rodeghiero, Francesco, Budde, Ulrich, Schneppenheim, Reinhard, Batlle, Javier, Canciani, Maria Teresa, Goudemand, Jenny, Peake, Ian, Goodeve, Anne, Peake, Ian, Goodeve, Anne, Rodeghiero, Francesco, Castaman, Giancarlo, Tosetto, Alberto, Federici, Augusto B., Batlle, Javier, Meyer, Dominique, Fressinaud, Edith, Mazurier, Claudine, Goudemand, Jenny, Eikenboom, Jeroen, Schneppenheim, Reinhard, Budde, Ulrich, Ingerslev, Jørgen, Vorlova, Zdena, Habart, David, Holmberg, Lars, Lethagen, Stefan, Pasi, John, Hill, Frank
Publicado em 2013

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture

Por Veyradier, Agnès, Boisseau, Pierre, Fressinaud, Edith, Caron, Claudine, Ternisien, Catherine, Giraud, Mathilde, Zawadzki, Christophe, Trossaert, Marc, Itzhar-Baïkian, Nathalie, Dreyfus, Marie, d’Oiron, Roseline, Borel-Derlon, Annie, Susen, Sophie, Bezieau, Stéphane, Denis, Cécile V., Goudemand, Jenny
Publicado no Medicine (Baltimore) (2016)

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 Ma...

Por Haberichter, Sandra L., Castaman, Giancarlo, Budde, Ulrich, Peake, Ian, Goodeve, Anne, Rodeghiero, Francesco, Federici, Augusto B., Batlle, Javier, Meyer, Dominique, Mazurier, Claudine, Goudemand, Jenny, Eikenboom, Jeroen, Schneppenheim, Reinhard, Ingerslev, Jorgen, Vorlova, Zdena, Habart, David, Holmberg, Lars, Lethagen, Stefan, Pasi, John, Hill, Frank G. H., Montgomery, Robert R.
Publicado em 2008

Summary report of the First International Conference on inhibitors in haemophilia A

Por Lacroix-Desmazes, Sebastien, Scott, David W., Goudemand, Jenny, van den Berg, Marijke, Makris, Michael, van Velzen, Alice S., Santagostino, Elena, Lillicrap, David, Rosendaal, Frits R., Hilger, Anneliese, Sauna, Zuben E., Oldenburg, Johannes, Mantovani, Lorenzo, Mancuso, M. Elisa, Kessler, Craig, Hay, Charles R.M., Knoebl, Paul, Di Minno, Giovanni, Hoots, Keith, Bok, Amanda, Brooker, Mark, Buoso, Erica, Mannucci, Pier Mannuccio, Peyvandi, Flora
Publicado no Blood Transfus (2017)

Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): study protocol for a multicentric...

Por Resseguier, Noémie, Rosso-Delsemme, Natacha, Beltran Anzola, Any, Baumstarck, Karine, Milien, Vanessa, Ardillon, Laurent, Bayart, Sophie, Berger, Claire, Bertrand, Marie-Anne, Biron-Andreani, Christine, Borel-Derlon, Annie, Castet, Sabine, Chamouni, Pierre, Claeyssens Donadel, Ségolène, De Raucourt, Emmanuelle, Desprez, Dominique, Falaise, Céline, Frotscher, Birgit, Gay, Valérie, Goudemand, Jenny, Gruel, Yves, Guillet, Benoît, Harroche, Annie, Hassoun, Abel, Huguenin, Yoann, Lambert, Thierry, Lebreton, Aurélien, Lienhart, Anne, Martin, Michèle, Meunier, Sandrine, Monpoux, Fabrice, Mourey, Guillaume, Negrier, Claude, Nguyen, Philippe, Nyombe, Placide, Oudot, Caroline, Pan-Petesch, Brigitte, Polack, Benoît, Rafowicz, Anne, Rauch, Antoine, Rivaud, Delphine, Schneider, Pascale, Spiegel, Alexandra, Stoven, Cecile, Tardy, Brigitte, Trossaërt, Marc, Valentin, Jean-Baptiste, Vanderbecken, Stéphane, Volot, Fabienne, Voyer-Ebrard, Annelise, Wibaut, Bénédicte, Leroy, Tanguy, Sannie, Thomas, Chambost, Hervé, Auquier, Pascal
Publicado no BMJ Open (2018)