Search Results - Catherine Badens

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  1. 1
    Syndromic diarrhea/Tricho-hepato-enteric syndrome

    Syndromic diarrhea/Tricho-hepato-enteric syndrome by Alexandre Fabre, Christine Martinez‐Vinson, Olivier Goulet, Catherine Badens

    Published 2013
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  2. 2
    The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

    The SKIV2L RNA exosome limits activation of the RIG-I-like receptors by Sterling Eckard, Gillian Rice, Alexandre Fabre, Catherine Badens, Elizabeth Gray, Jane Hartley, Yanick J. Crow, Daniel B. Stetson

    Published 2014
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  3. 3
    Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis

    Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis by Raphael Rapetti‐Mauss, Véronique Picard, Corinne Guitton, Khaldoun Ghazal, Valérie Proulle, Catherine Badens, Olivier Soriani, Loïc Garçon, Hélène Guizouarn

    Published 2017
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  4. 4
    Variants in genetic modifiers of -thalassemia can help to predict the major or intermedia type of the disease

    Variants in genetic modifiers of -thalassemia can help to predict the major or intermedia type of the disease by Catherine Badens, Philippe Joly, Imane Agouti, Isabelle Thuret, Katia Gonnet, S. Fattoum, A. Francina, M.-C. Siméoni, Anderson Loundou, Serge Pissard

    Published 2011
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  5. 5
    Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study

    Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study by Maxime Darrin, Ashwin Samudre, Maxime Sahun, Scott Atwell, Catherine Badens, Anne Charrier, Emmanuèle Helfer, Annie Viallat, Vincent Cohen-Addad, Sophie Giffard‐Roisin

    Published 2023
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  6. 6
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations by Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Published 2015
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  7. 7
    High prevalence of laminopathies among patients with metabolic syndrome

    High prevalence of laminopathies among patients with metabolic syndrome by Anne Dutour, Patrice Roll, Bénédicte Gaborit, Sébastien Courrier, Marie‐Christine Alessi, David‐Alexandre Trégouët, Fabien Angelis, Andrée Robaglia‐Schlupp, Nathalie Lesavre, Pierre Cau, Nicolas Lévy, Catherine Badens, Pierre‐Emmanuel Morange

    Published 2011
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  8. 8
    French Multicenter 22-Year Experience in Stem Cell Transplantation for Beta-Thalassemia Major: Lessons and Future Directions

    French Multicenter 22-Year Experience in Stem Cell Transplantation for Beta-Thalassemia Major: Lessons and Future Directions by Claire Galambrun, Corinne Pondarré, Yves Bertrand, Anderson Loundou, Pierre Bordigoni, Pierre Frange, Patrick Lutz, Valérie Mialou, Hervé Rubie, Gèrard Socié, Pascale Schneider, Françoise Bernaudin, Catherine Paillard, Gérard Michel, Catherine Badens, Isabelle Thuret

    Published 2012
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  9. 9
    Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

    Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome by Alexandre Fabre, Christine Martinez‐Vinson, Bertrand Roquelaure, Chantal Missirian, Nicolás André, Anne Breton, Alain Lachaux, Ödül Eğritaş, V. Colomb, Julie Lemale, Jean‐Pierre Cézard, Olivier Goulet, Jacques Sarles, Nicolas Lévy, Catherine Badens

    Published 2010
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  10. 10
    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus by Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean‐Christophe Roux, Imen Dorboz, Jean-Pierre Desvignes, Catherine Badens, Marc Delépine, Mark Lathrop, Pierre Cau, Nicolas Lévy, Nadine Girard, Pierre Sarda, Odile Boespflug‐Tanguy, Laurent Villard

    Published 2013
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  11. 11
    SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

    SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome by Alexandre Fabre, Bernard Charroux, Christine Martinez‐Vinson, Bertrand Roquelaure, Ödül Eğritaş, Ersin Sayar, Hilary A. Smith, V. Colomb, Nicolás André, Jean‐Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Lévy, Catherine Badens

    Published 2012
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  12. 12
    Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

    Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors by Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Sébastien Courrier, Irène Boccaccio, Amandine Boyer, Wim J. Kleijer, Anja Wagner, Fabienne Giuliano, Frits A. Beemer, José M.P. Freije, Pierre Cau, Raoul C. M. Hennekam, Carlos López-Otı́n, Catherine Badens, Nicolas Lévy

    Published 2005
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  13. 13
    A mutation in the Gardos channel is associated with hereditary xerocytosis

    A mutation in the Gardos channel is associated with hereditary xerocytosis by Raphael Rapetti‐Mauss, Caroline Lacoste, Véronique Picard, Corinne Guitton, Elise Lombard, Marie Loosveld, Vanessa Nivaggioni, Nathalie Dasilva, David Salgado, Jean-Pierre Desvignes, Christophe Béroud, Patrick Viout, Monique Bernard, Olivier Soriani, H Vinti, V. Lacroze, Madeleine Fénéant‐Thibault, Isabelle Thuret, Hélène Guizouarn, Catherine Badens

    Published 2015
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  14. 14
    Complications and treatment of patients with -thalassemia in France: results of the National Registry

    Complications and treatment of patients with -thalassemia in France: results of the National Registry by Isabelle Thuret, Corinne Pondarré, Anderson Loundou, Dominique Steschenko, Robert Girot, D. Bachir, Christian Rosé, Vincent Barlogis, Jean Donadieu, M. de Montalembert, Isabelle Hagège, Brigitte Pegourié, Claire Berger, M Micheau, Françoise Bernaudin, Thierry Leblanc, Laura J. Lutz, Frédéric Galactéros, M.-C. Siméoni, Catherine Badens

    Published 2009
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  15. 15
    A genetic score for the prediction of beta-thalassemia severity

    A genetic score for the prediction of beta-thalassemia severity by Fabrice Danjou, Michael L. Francavilla, Franco Anni, S. Satta, Franca Rosa Demartis, Lucia Perseu, M. Manca, Maria Carla Sollaino, Laura Manunza, Elisabetta Mereu, Giuseppe Marceddu, Serge Pissard, Philippe Joly, Isabelle Thuret, Raffaella Origa, Jette Borg, Gian Luca Forni, Antonio Piga, Maria Eliana Lai, Catherine Badens, Paolo Moi, R. Galanello

    Published 2014
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  16. 16
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels by Affef Abidi, Jérôme Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine de la Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaëtan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    Published 2015
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  17. 17
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases by Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Published 2015
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  18. 18
    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 by Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Héron, Maryline Carneiro, Anna Kaminśka, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Héron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, D. Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, B. Chabrol, Catherine Badens, Gaëtan Lesca, Laurent Villard

    Published 2013
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  19. 19
    Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

    Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients by Véronique Picard, Corinne Guitton, Isabelle Thuret, Christian Rosé, Laurence Bendélac, Khaldoun Ghazal, Patricia Aguilar‐Martinez, Catherine Badens, Claire Barro, Claire Bénéteau, Claire Berger, P. Cathébras, Éric Deconinck, Jacques Delaunay, J.M. Durand, Nadia Firah, Frédéric Galactéros, Bertrand Godeau, Xavier Jaïs, Jean-Pierre de Jaureguiberry, Camille Le Stradic, François Lifermann, Robert Maffre, G Morin, Julien Perrin, Valérie Proulle, M. Ruivard, Fabienne Toutain, Agnès Lahary, Loïc Garçon

    Published 2019
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  20. 20
    Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience

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

    Published 2018
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