Výsledky vyhledávání - Favier, Remi

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

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Identification of MPL R102P Mutation in Hereditary Thrombocytosis Autor Bellanné-Chantelot, Christine, Mosca, Matthieu, Marty, Caroline, Favier, Rémi, Vainchenker, William, Plo, Isabelle

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A thrombopoietin receptor agonist to rescue an unusual platelet transfusion-induced reaction in a p.V1316M-associated von Willebrand disease type 2B patient Autor Casari, Caterina, Favier, Remi, Legendre, Paulette, Kauskot, Alexandre, Adam, Frederic, Picard, Veronique, Lenting, Peter T., Denis, Cecile V., Proulle, Valerie

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MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane Autor Smith, Alyson S., Pal, Kasturi, Nowak, Roberta B., Demenko, Anastasiya, Zaninetti, Carlo, Da Costa, Lydie, Favier, Remi, Pecci, Alessandro, Fowler, Velia M.

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FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia Autor Raslova, Hana, Komura, Emiko, Le Couédic, Jean Pierre, Larbret, Frederic, Debili, Najet, Feunteun, Jean, Danos, Olivier, Albagli, Olivier, Vainchenker, William, Favier, Rémi

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Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity Autor Sanborn, Keri B., Mace, Emily M., Rak, Gregory D., Difeo, Analisa, Martignetti, John A., Pecci, Alessandro, Bussel, James B., Favier, Rémi, Orange, Jordan S.

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Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse Autor Sanborn, Keri B., Rak, Gregory D., Maru, Saumya Y., Demers, Korey, Difeo, Analisa, Martignetti, John A, Betts, Michael R., Favier, Rémi, Banerjee, Pinaki P., Orange, Jordan S.

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Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation Autor Bluteau, Dominique, Balduini, Alessandra, Balayn, Nathalie, Currao, Manuela, Nurden, Paquita, Deswarte, Caroline, Leverger, Guy, Noris, Patrizia, Perrotta, Silverio, Solary, Eric, Vainchenker, William, Debili, Najet, Favier, Remi, Raslova, Hana

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Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre‐leukaemic clone resulting in T2‐ALL and AML‐M0 Autor Manchev, Vladimir T., Bouzid, Hind, Antony‐Debré, Iléana, Leite, Betty, Meurice, Guillaume, Droin, Nathalie, Prebet, Thomas, Costello, Régis T., Vainchenker, William, Plo, Isabelle, Diop, M'boyba, Macintyre, Elizabeth, Asnafi, Vahid, Favier, Rémi, Baccini, Véronique, Raslova, Hana

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Disrupted filamin A/α(IIb)β(3) interaction induces macrothrombocytopenia by increasing RhoA activity Autor Donada, Alessandro, Balayn, Nathalie, Sliwa, Dominika, Lordier, Larissa, Ceglia, Valentina, Baschieri, Francesco, Goizet, Cyril, Favier, Rémi, Tosca, Lucie, Tachdjian, Gérard, Denis, Cecile V., Plo, Isabelle, Vainchenker, William, Debili, Najet, Rosa, Jean-Philippe, Bryckaert, Marijke, Raslova, Hana

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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... Autor Glembotsky, Ana C., Sliwa, Dominika, Bluteau, Dominique, Balayn, Nathalie, Marin Oyarzún, Cecilia P., Raimbault, Anna, Bordas, Marie, Droin, Nathalie, Pirozhkova, Iryna, Washington, Valance, Goette, Nora P., Marta, Rosana F., Favier, Rémi, Raslova, Hana, Heller, Paula G.

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A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene Autor Manchev, Vladimir T., Hilpert, Morgane, Berrou, Eliane, Elaib, Ziane, Aouba, Achille, Boukour, Siham, Souquere, Sylvie, Pierron, Gerard, Rameau, Philippe, Andrews, Robert, Lanza, François, Bobe, Regis, Vainchenker, William, Rosa, Jean-Philippe, Bryckaert, Marijke, Debili, Najet, Favier, Remi, Raslova, Hana

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

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Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia Autor Antony-Debré, Iléana, Manchev, Vladimir T., Balayn, Nathalie, Bluteau, Dominique, Tomowiak, Cécile, Legrand, Céline, Langlois, Thierry, Bawa, Olivia, Tosca, Lucie, Tachdjian, Gérard, Leheup, Bruno, Debili, Najet, Plo, Isabelle, Mills, Jason A., French, Deborah L., Weiss, Mitchell J., Solary, Eric, Favier, Remi, Vainchenker, William, Raslova, Hana

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Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders Autor Latger-Cannard, Veronique, Philippe, Christophe, Bouquet, Alexandre, Baccini, Veronique, Alessi, Marie-Christine, Ankri, Annick, Bauters, Anne, Bayart, Sophie, Cornillet-Lefebvre, Pascale, Daliphard, Sylvie, Mozziconacci, Marie-Joelle, Renneville, Aline, Ballerini, Paola, Leverger, Guy, Sobol, Hagay, Jonveaux, Philippe, Preudhomme, Claude, Nurden, Paquita, Lecompte, Thomas, Favier, Remi

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia Autor Hirsch, Pierre, Zhang, Yanyan, Tang, Ruoping, Joulin, Virginie, Boutroux, Hélène, Pronier, Elodie, Moatti, Hannah, Flandrin, Pascale, Marzac, Christophe, Bories, Dominique, Fava, Fanny, Mokrani, Hayat, Betems, Aline, Lorre, Florence, Favier, Rémi, Féger, Frédéric, Mohty, Mohamad, Douay, Luc, Legrand, Ollivier, Bilhou-Nabera, Chrystèle, Louache, Fawzia, Delhommeau, François

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Nbeal2 interacts with Dock7, Sec16a, and Vac14 Autor Mayer, Louisa, Jasztal, Maria, Pardo, Mercedes, Aguera de Haro, Salvadora, Collins, Janine, Bariana, Tadbir K., Smethurst, Peter A., Grassi, Luigi, Petersen, Romina, Nurden, Paquita, Favier, Rémi, Yu, Lu, Meacham, Stuart, Astle, William J., Choudhary, Jyoti, Yue, Wyatt W., Ouwehand, Willem H., Guerrero, Jose A.

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Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome Autor Albers, Cornelis A, Cvejic, Ana, Favier, Rémi, Bouwmans, Evelien E, Alessi, Marie-Christine, Bertone, Paul, Jordan, Gregory, Kettleborough, Ross NW, Kiddle, Graham, Kostadima, Myrto, Read, Randy J, Sipos, Botond, Sivapalaratnam, Suthesh, Smethurst, Peter A, Stephens, Jonathan, Voss, Katrin, Nurden, Alan, Rendon, Augusto, Nurden, Paquita, Ouwehand, Willem H

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Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture Autor Stritt, Simon, Nurden, Paquita, Favier, Remi, Favier, Marie, Ferioli, Silvia, Gotru, Sanjeev K., van Eeuwijk, Judith M M., Schulze, Harald, Nurden, Alan T., Lambert, Michele P., Turro, Ernest, Burger-Stritt, Stephanie, Matsushita, Masayuki, Mittermeier, Lorenz, Ballerini, Paola, Zierler, Susanna, Laffan, Michael A., Chubanov, Vladimir, Gudermann, Thomas, Nieswandt, Bernhard, Braun, Attila

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

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