Establishment of MOS-SF36 percentile ranks in the general youth French population

por Trognon, Arthur, Tinti, Emilie, Beaupain, Blandine, Donadieu, Jean, Musiol, Michel
Publicado 2022

Congenital neutropenia: diagnosis, molecular bases and patient management

por Donadieu, Jean, Fenneteau, Odile, Beaupain, Blandine, Mahlaoui, Nizar, Chantelot, Christine Bellanné
Publicado 2011

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

por Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine
Publicado 2021

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity

por Marin-Esteban, Viviana, Youn, Jenny, Beaupain, Blandine, Jaracz-Ros, Agnieszka, Barlogis, Vincent, Fenneteau, Odile, Leblanc, Thierry, Bellanger, Florence, Pellet, Philippe, Buratti, Julien, Lapillonne, Hélène, Bachelerie, Françoise, Donadieu, Jean, Bellanné-Chantelot, Christine
Publicado 2021

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

por Jaeger, Baptiste N., Donadieu, Jean, Cognet, Céline, Bernat, Claire, Ordoñez-Rueda, Diana, Barlogis, Vincent, Mahlaoui, Nizar, Fenis, Aurore, Narni-Mancinelli, Emilie, Beaupain, Blandine, Bellanné-Chantelot, Christine, Bajénoff, Marc, Malissen, Bernard, Malissen, Marie, Vivier, Eric, Ugolini, Sophie
Publicado 2012

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

por Beaussant Cohen, Sarah, Fenneteau, Odile, Plouvier, Emmanuel, Rohrlich, Pierre-Simon, Daltroff, Gerard, Plantier, Isabelle, Dupuy, Alain, Kerob, Delphine, Beaupain, Blandine, Bordigoni, Pierre, Fouyssac, Fanny, Delezoide, Anne-Lise, Devouassoux, Gilles, Nicolas, Jean François, Bensaid, Philippe, Bertrand, Yves, Balabanian, Karl, Chantelot, Christine Bellanne, Bachelerie, Françoise, Donadieu, Jean
Publicado 2012

Natural history of Barth syndrome: a national cohort study of 22 patients

por Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean
Publicado 2013

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

por Desplantes, Claire, Fremond, Marie Louise, Beaupain, Blandine, Harousseau, Jean Luc, Buzyn, Agnès, Pellier, Isabelle, Roques, Gaelle, Morville, Pierre, Paillard, Catherine, Bruneau, Julie, Pinson, Lucile, Jeziorski, Eric, Vannier, Jean Pierre, Picard, Capucine, Bellanger, Florence, Romero, Norma, de Pontual, Loïc, Lapillonne, Hélène, Lutz, Patrick, Chantelot, Christine Bellanné, Donadieu, Jean
Publicado 2014

HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry

por Rotulo, Gioacchino Andrea, Beaupain, Blandine, Rialland, Fanny, Paillard, Catherine, Nachit, Ouahiba, Galambrun, Claire, Gandemer, Virginie, Bertrand, Yves, Neven, Benedicte, Dore, Eric, Moshous, Despina, Filhon, Bruno, Aladjdi, Nathalie, Sicre de Fontbrune, Flore, de la Tour, Regis Peffault, Ouachee, Marie, Bellanne-Chantelot, Christine, Dalle, Jean-Hugues, Donadieu, Jean
Publicado 2020

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

por Donadieu, Jean, Lamant, Marie, Fieschi, Claire, de Fontbrune, Flore Sicre, Caye, Aurélie, Ouachee, Marie, Beaupain, Blandine, Bustamante, Jacinta, Poirel, Hélène A., Isidor, Bertrand, Van Den Neste, Eric, Neel, Antoine, Nimubona, Stanislas, Toutain, Fabienne, Barlogis, Vincent, Schleinitz, Nicolas, Leblanc, Thierry, Rohrlich, Pierre, Suarez, Felipe, Ranta, Dana, Chahla, Wadih Abou, Bruno, Bénédicte, Terriou, Louis, Francois, Sylvie, Lioure, Bruno, Ahle, Guido, Bachelerie, Françoise, Preudhomme, Claude, Delabesse, Eric, Cave, Hélène, Bellanné-Chantelot, Christine, Pasquet, Marlène
Publicado 2018

Somatic genetic rescue of a germline ribosome assembly defect

por Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Publicado 2021

Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

por Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Publicado 2022