Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy by Paquita Nurden, Simon Stritt, Remi Favier, Alan T. Nurden

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Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease by Paquita Nurden, Alan Nurden, Rémi Favier, Matthieu Gleyze

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Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia by Jérôme Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remi Favier

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Endothelial cell activation by immunoglobulins from patients with immune thrombocytopenic purpura or with antiphospholipid syndrome by Sylvie Dunoyer-Geindre, Françoise Boehlen, Remi Favier, Denis Wahl, Jacek Musial, Wolfgang Korte, Nathalie Satta, Egbert Kruithof, Philippe de Moerloose

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Germline RUNX1 variants in paediatric patients in a French specialised centre by Cécile Liu, Paola Ballerini, Guillaume Nguyen, Zoia Mincheva, Bruno Copin, Boutheina Bouslama, Guy Leverger, Arnaud Petit, Rémi Favier, Hélène Lapillonne, Hélène Boutroux

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Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation by Rémi Favier, Xavier Roussel, Sylvain Audia, Jean Claude Bordet, Emmanuel De Maistre, Pierre Hirsch, Anne Neuhart, Isabelle Bedgedjian, Vasiliki Gkalea, Marie Favier, Etienne Daguindau, Paquita Nurden, Eric Deconinck

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Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predispos... by Ana C. Glembotsky, Dominika Sliwa, Dominique Bluteau, Nathalie Balayn, Cecilia P. Marin Oyarzún, Anna Raimbault, Marie Bordas, Nathalie Droin, Iryna Pirozhkova, Valance Washington, Nora P. Goette, Rosana F. Marta, Rémi Favier, Hana Raslova, Paula G. Heller

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Germline RUNX1 Intragenic Deletion: Implications for Accurate Diagnosis of FPD/AML by Nicolas Duployez, Jean-Edouard Martin, Sabine Khalife-Hachem, Ryane Benkhelil, Véronique Saada, Christophe Marzac, Nathalie Auger, Alice Marceau-Renaut, Rémi Favier, Paola Ballerini, Olivier Caron, André Baruchel, Stéphane de Botton, Claude Preudhomme, Jean-Baptiste Micol, Hana Raslova, Iléana Antony-Debré

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Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome by Larissa Lordier, Christian A. Di Buduo, Alexandre Kauskot, Nathalie Balayn, Cécile Lavenu-Bombled, Francesco Baschieri, Valérie Proulle, Cecilia P. Marin Oyarzun, Francesca Careddu, Ida Biunno, Tudor Manoliu, Philippe Rameau, Isabelle Plo, Nicolas Papadopoulos, Stefan Constantinescu, William Vainchenker, Guillaume Nam Nguyen, Paola Ballerini, Remi Favier, Alessandra Balduini, Hana Raslova

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ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis by Francesca Basso-Valentina, Alessandro Donada, Vladimir T Manchev, Manuel Lisetto, Nathalie Balayn, Jean Edouard Martin, Delphine Muller, Cecilia Paola Marin Oyarzun, Hélène Duparc, Brahim Arkoun, Alessandro Cumin, Lionel Faivre, Nathalie Droin, Ida Biunno, Alessandro Pecci, Alessandra Balduini, Najet Debili, Iléana Antony-Debré, Caroline Marty, William Vainchenker, Isabelle Plo, Remi Favier, Hana Raslova

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Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses by Rinske van Oorschot, Anna E. Marneth, Saskia M. Bergevoet, Maaike G.J.M. van Bergen, Kathelijne Peerlinck, Claire E. Lentaigne, Carolyn M. Millar, Sarah K. Westbury, Remi Favier, Wendy N. Erber, Ernest Turro, Joop H. Jansen, Willem H. Ouwehand, Harriet L. McKinney, NIHR BioResource Collaborative Group, Kate Downes, Kathleen Freson, Bert A. van der Reijden

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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors by Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Dorsaf Ghalloussi, Veronique Baccini, Lea Vidal, Anna Mezzapesa, Nadjim Chelghoum, Badreddine Mohand-Oumoussa, Céline Falaise, Rémi Favier, Willem H. Ouwehand, Mathieu Fiore, Franck Peiretti, Pierre Emmanuel Morange, Noémie Saut, Denis Bernot, Andreas Greinacher, NIHR BioResource, Alan T. Nurden, Paquita Nurden, Kathleen Freson, David-Alexandre Trégouët, Hana Raslova, Marie-Christine Alessi

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Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study by Francesco Paciullo, Loredana Bury, Patrizia Noris, Emanuela Falcinelli, Federica Melazzini, Sara Orsini, Carlo Zaninetti, Rezan Abdul-Kadir, Deborah Obeng-Tuudah, Paula G. Heller, Ana C. Glembotsky, Fabrizio Fabris, Jose Rivera, Maria Luisa Lozano, Nora Butta, Remi Favier, Ana Rosa Cid, Marc Fouassier, Gian Marco Podda, Cristina Santoro, Elvira Grandone, Yvonne Henskens, Paquita Nurden, Barbara Zieger, Adam Cuker, Katrien Devreese, Alberto Tosetto, Erica De Candia, Arnaud Dupuis, Koji Miyazaki, Maha Othman, Paolo Gresele

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NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells by Laure Delage, Francesco Carbone, Quentin Riller, Jean-Luc Zachayus, Erwan Kerbellec, Armelle Buzy, Marie-Claude Stolzenberg, Marine Luka, Camille de Cevins, Georges Kalouche, Rémi Favier, Alizée Michel, Sonia Meynier, Aurélien Corneau, Caroline Evrard, Nathalie Neveux, Sébastien Roudières, Brieuc P. Pérot, Mathieu Fusaro, Christelle Lenoir, Olivier Pellé, Mélanie Parisot, Marc Bras, Sébastien Héritier, Guy Leverger, Anne-Sophie Korganow, Capucine Picard, Sylvain Latour, Bénédicte Collet, Alain Fischer, Bénédicte Neven, Aude Magérus, Mickaël Ménager, Benoit Pasquier, Frédéric Rieux-Laucat

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Bleeding risk of surgery and its prevention in patients with inherited platelet disorders by Sara Orsini, Patrizia Noris, Loredana Bury, Paula G. Heller, Cristina Santoro, Rezan A. Kadir, Nora C. Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zúñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D. Mumford, Gul Nihal Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P. Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C. Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele

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The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy by Claire C. Homan, Sarah L. King-Smith, David M. Lawrence, Peer Arts, Jinghua Feng, James Andrews, Mark Armstrong, Thuong Ha, Julia Dobbins, Michael W. Drazer, Kai Yu, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Jude Fitzgibbon, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Paul Liu, Lucy A. Godley, Andreas W. Schreiber, Christopher N. Hahn, Hamish S. Scott, Anna L. Brown

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Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia by Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G. Heller, Elisa Civaschi, Nuria Pujol-Moix, Fabrizio Fabris, Remi Favier, Paolo Gresele, Véronique Latger-Cannard, Adam Cuker, Paquita Nurden, Andreas Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, Marie-Françoise Hurtaud-Roux, Ana C. Glembotsky, Eduardo Muñiz-Diaz, Maria Luigia Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Anna Savoia, Carlo L. Balduini, Sophie Bayart, Anne Bauters, Schéhérazade Benabdallah-Guedira, Françoise Boehlen, Jeanne-Yvonne Borg, Roberta Bottega, James Bussel, Daniela De Rocco, Emmanuel de Maistre, Michela Faleschini, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, Dominique Fleury, Pierre Fontana, Chloé James, Francois Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin-Coignard, Fanny Menard, Sandra Mercier, Annamaria Mezzasoma, Pietro Minuz, Ilaria Nichele, Lucia D. Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, Agnes Rigouzzo, Bruno Royer, Pierre Sie, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, Dino Veneri

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