A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia von Arnaud, Lionel, Saison, Carole, Helias, Virginie, Lucien, Nicole, Steschenko, Dominique, Giarratana, Marie-Catherine, Prehu, Claude, Foliguet, Bernard, Montout, Lory, de Brevern, Alexandre G., Francina, Alain, Ripoche, Pierre, Fenneteau, Odile, Da Costa, Lydie, Peyrard, Thierry, Coghlan, Gail, Illum, Niels, Birgens, Henrik, Tamary, Hannah, Iolascon, Achille, Delaunay, Jean, Tchernia, Gil, Cartron, Jean-Pierre

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Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience von Rahal, Ilhem, Galambrun, Claire, Bertrand, Yves, Garnier, Nathalie, Paillard, Catherine, Frange, Pierre, Pondarré, Corinne, Dalle, Jean Hugues, de Latour, Regis Peffault, Michallet, Mauricette, Steschenko, Dominique, Moshous, Despina, Lutz, Patrick, Stephan, Jean Louis, Rohrlich, Pierre Simon, Yakoub-Agha, Ibrahim, Bernaudin, Françoise, Piguet, Christophe, Aladjidi, Nathalie, Badens, Catherine, Berger, Claire, Socié, Gérard, Dumesnil, Cécile, Castex, Marie Pierre, Poirée, Marilyne, Lambilliotte, Anne, Thomas, Caroline, Simon, Pauline, Auquier, Pascal, Michel, Gérard, Loundou, Anderson, Agouti, Imane, Thuret, Isabelle

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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females von Depienne, Christel, Trouillard, Oriane, Bouteiller, Delphine, Gourfinkel-An, Isabelle, Poirier, Karine, Rivier, François, Berquin, Patrick, Nabbout, Rima, Chaigne, Denys, Steschenko, Dominique, Gautier, Agnès, Hoffman-Zacharska, Dorota, Lannuzel, Annie, Lackmy-Port-Lis, Marilyn, Maurey, Hélène, Dusser, Anne, Bru, Marie, Gilbert-Dussardier, Brigitte, Roubertie, Agathe, Kaminska, Anna, Whalen, Sandra, Mignot, Cyril, Baulac, Stéphanie, Lesca, Gaetan, Arzimanoglou, Alexis, LeGuern, Eric

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Complications and treatment of patients with β-thalassemia in France: results of the National Registry von THURET, Isabelle, PONDARRE, Corinne, HAGEGE, Isabelle, PEGOURIE, Brigitte, BERGER, Claire, MICHEAU, Marguerite, BERNAUDIN, Françoise, LEBLANC, Thierry, LUTZ, Laurence, GALACTEROS, Frédéric, SIMEONI, Marie-Claude, BADENS, Catherine, LOUNDOU, Anderson, STESCHENKO, Dominique, GIROT, Robert, BACHIR, Dora, ROSE, Christian, BARLOGIS, Vincent, DONADIEU, Jean, DE MONTALEMBERT, Mariane

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Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease von Lesca, Gaetan, Boutry‐Kryza, Nadia, De Toffol, Bertrand, Milh, Mathieu, Steschenko, Dominique, Lemesle‐Martin, Martine, Maillard, Louis, Foletti, Giovanni, Rudolf, Gabrielle, Nielsen, Jørgen Erik, á Rogvi‐Hansen, Bjarke, Erdal, Jesper, Mancini, Josette, Thauvin‐Robinet, Christel, M’Rrabet, Amel, Ville, Dorothée, Szepetowski, Pierre, Raffo, Emmanuel, Hirsch, Edouard, Ryvlin, Philippe, Calender, Alain, Genton, Pierre

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Previously misdiagnosed red cell membrane disorder and familial consequences von Gérard, Delphine, Bourin, Sophie, Phulpin, Aurélie, Picard, Véronique, Steschenko, Dominique, Perrin, Julien

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Sustainability of Hematological and Clinical Benefits to HU Administration in the Prevention of Sickle-Cell Vaso-Occlusive Crises in Routine Practice von Voskaridou, Ersi, Oevermann, Lena, Armari-Alla, Corinne, Kordes, Uwe, Galactéros, Frédéric, Benkerrou, Malika, Thuret, Isabelle, Steschenko, Dominique

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PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population von MENERET, Aurélie, GRABLI, David, ANHEIM, Mathieu, TRANCHANT, Christine, BURBAUD, Pierre, PIERRE JEDYNAK, Charles, GRAS, Domitille, STESCHENKO, Dominique, DEVOS, David, DE VILLEMEUR, Thierry Billette, VIDAILHET, Marie, BRICE, Alexis, DEPIENNE, Christel, ROZE, Emmanuel, GAUDEBOUT, Cécile, PICARD, Fabienne, DÜRR, Alexandra, LAGROUA, Isabelle, BOUTEILLER, Delphine, MIGNOT, Cyril, DOUMMAR, Diane

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Platelet and not erythrocyte microparticles are procoagulant in transfused thalassaemia major patients von Agouti, Imane, Cointe, Sylvie, Robert, Stéphane, Judicone, Coralie, Loundou, Anderson, Driss, Fathi, Brisson, Alain, Steschenko, Dominique, Rose, Christian, Pondarré, Corinne, Bernit, Emmanuelle, Badens, Catherine, Dignat‐George, Françoise, Lacroix, Romaric, Thuret, Isabelle

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Oxidative stress‐related infantile pyknocytosis with Heinz bodies von Stephan, Charlotte, Phulpin, Aurélie, Steschenko, Dominique, Lesesve, Jean‐François, Perrin, Julien

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Transfusion requirements and complication rate in β‐thalassemia intermedia due to heterozygous β‐globin gene mutation and triplicated α‐globin genes von Bonello‐Palot, Nathalie, Benoit, Audrey, Agouti, Imane, Hamouda, Ilyes, Brousse, Valentine, Allali, Slimane, Ame, Shanti, Atmani, Sai, Bachir, Dora, Bartolucci, Pablo, Belloy, Marie, Bernit, Emmanuelle, Besancon‐Bergelin, Anne, Blanc, Michel, Brasme, Jean‐François, Brousse, Valentine, Cannas, Giovanna, Comont, Thibault, Conde, Mohamed, Couec, Marie‐Laure, Cougoul, Pierre, De‐Montalembert, Marianne, Donadieu, Jean, Dossier, Antoine, Fasola, Sylvie, Faucher, Benoit, Galacteros, Frederic, Garnier, Nathalie, Gauthier, Alexandra, Gellen‐Dautremer, Justine, Girodon, François, Gonzales, Fanny, Guichard, Isabelle, Guillet, Henri, Guitton, Corinne, Habibi, Anoosha, Holvoet, Laurent, Hot, Arnaud, Huguenin, Yoann, Ithier, Ghislaine, Jean, Estelle, Lachenal, Florence, Lahary, Agnes, Lambilliotte, Anne, Lange, Franciska, Leblanc, Thierry, Lehnert, Agnes, Leverger, Guy, Lioure, Bruno, Lutz, Laurence, Magda, Alexis, Makowski, Caroline, Malvezzi, Paolo, Manoli, Corina, Masseau, Agathe, Masserot‐Lureau, Caroline, Mathey, Catherine, Mathieu, Suzanne, Mattioni, Sarah, Micheau, Marguerite, Michel, Gerard, Missud, Florence, Monpoux, Fabrice, Navarro, Robert, Ngo, Stéphanie, Nimubona, Stanislas, Orvain, Corentin, Oziol, Eric, Paillard, Catherine, Pegourie, Brigitte, Phulpin, Aurélie, Piguet, Christophe, Pluchart, Claire, Pondarre, Corinne, Renard, Cécile, Ribeil, Jean‐Antoine, Rohrlich, Pierre‐Simon, Soto, Bertrand, Spiegel, Alexandra, Stankovic, Katia, Steschenko, Dominique, Swiader, Laure, Thomas, Caroline, Thuret, Isabelle, Valentin, Jean‐Baptiste, Zenchri, Ferielle, Badens, Catherine

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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism von Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie

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Novel mutations in EPM2A and NHLRCI widen the spectrum of Lafora disease von LESCA, Gaetan, BOUTRY-KRYZA, Nadia, A ROGVI-HANSEN, Bjarke, ERDAL, Jesper, MANCINI, Josette, THAUVIN-ROBINET, Christel, M'RRABET, Amel, VILLE, Dorothée, SZEPETOWSKI, Pierre, RAFFO, Emmanuel, HIRSCH, Edouard, RYVLIN, Philippe, DE TOFFOL, Bertrand, CALENDER, Alain, GENTON, Pierre, MILH, Mathieu, STESCHENKO, Dominique, LEMESLE-MARTIN, Martine, MAILLARD, Louis, FOLETTI, Giovanni, RUDOLF, Gabrielle, NIELSEN, Jørgen Erik

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Psychological Outcome after Hematopoietic Cell Transplantation for Sickle Cell Disease von Pradere, Jerome, Drain, Elise, Taieb, Olivier, Bernaudin, Francoise, Champion, Marie, Bonnet, Doris, Dutray, Benoit, Abbal, Tahar, Chaudre, Geraldine, Kuentz, Mathieu, Coic, Lena, Gluckman, Eliane, de Montalembert, Mariane, Dhedin, Nathalie, Vernant, Jean-Paul, Benkerrou, Malika, Bertrand, Yves, Vannier, Jean-Pierre, Steschenko, Dominique, Bordigoni, Pierre, Bachir, Dora, Galacteros, Frederic, Casanova, Jean-Laurent, Fischer, Alain, Rose, Marie

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Le dépistage néonatal ciblé de la drépanocytose en France métropolitaine : raisons et résultats von BENKERROU, Malika

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Genetics and epidemiology of Wilms' tumor: The French Wilms' tumor study von Bonaïti-Pellié, Catherine, Chompret, Agnès, Tournade, Marie-France, Hochez, Joelle, Moutou, Céline, Zucker, Jean-Michel, Steschenko, Dominique, Brunat-Mentigny, Maud, Roché, Henri, Tron, Philippe, Frappaz, Didier, Munzer, Martine, Bachelot, Colette, Dusol, Francois, Sommelet-Olive, Danielle, Lemerle, Jean

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