Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
Duquesnoy, Philippe, Escudier, Estelle, Vincensini, Laetitia, Freshour, Judy, Bridoux, Anne-Marie, Coste, André, Deschildre, Antoine, de Blic, Jacques, Legendre, Marie, Montantin, Guy, Tenreiro, Henrique, Vojtek, Anne-Marie, Loussert, Céline, Clément, Annick, Escalier, Denise, Bastin, Philippe, Mitchell, David R., Amselem, Serge
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
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common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
Duriez, Bénédicte, Duquesnoy, Philippe, Escudier, Estelle, Bridoux, Anne-Marie, Escalier, Denise, Rayet, Isabelle, Marcos, Elisabeth, Vojtek, Anne-Marie, Bercher, Jean-François, Amselem, Serge
Published in Proceedings of the National Academy of Sciences - PNAS (27.02.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (27.02.2007)
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Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
Papon, Jean-François, Bassinet, Laurence, Cariou-Patron, Gwenaëlle, Zerah-Lancner, Francoise, Vojtek, Anne-Marie, Blanchon, Sylvain, Crestani, Bruno, Amselem, Serge, Coste, Andre, Housset, Bruno, Escudier, Estelle, Louis, Bruno
Published in Orphanet journal of rare diseases (11.10.2012)
Published in Orphanet journal of rare diseases (11.10.2012)
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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Kott, Esther, Legendre, Marie, Copin, Bruno, Papon, Jean-François, Dastot-Le Moal, Florence, Montantin, Guy, Duquesnoy, Philippe, Piterboth, William, Amram, Daniel, Bassinet, Laurence, Beucher, Julie, Beydon, Nicole, Deneuville, Eric, Houdouin, Véronique, Journel, Hubert, Just, Jocelyne, Nathan, Nadia, Tamalet, Aline, Collot, Nathalie, Jeanson, Ludovic, Le Gouez, Morgane, Vallette, Benoit, Vojtek, Anne-Marie, Epaud, Ralph, Coste, André, Clement, Annick, Housset, Bruno, Louis, Bruno, Escudier, Estelle, Amselem, Serge
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Blanchon, Sylvain, Legendre, Marie, Copin, Bruno, Duquesnoy, Philippe, Montantin, Guy, Kott, Esther, Dastot, Florence, Jeanson, Ludovic, Cachanado, Marine, Rousseau, Alexandra, Papon, Jean François, Beydon, Nicole, Brouard, Jacques, Crestani, Bruno, Deschildre, Antoine, Désir, Julie, Dollfus, Hélène, Leheup, Bruno, Tamalet, Aline, Thumerelle, Caroline, Vojtek, Anne-Marie, Escalier, Denise, Coste, André, de Blic, Jacques, Clément, Annick, Escudier, Estelle, Amselem, Serge
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure
Vallet, Christelle, Escudier, Estelle, Roudot-Thoraval, Françoise, Blanchon, Sylvain, Fauroux, Brigitte, Beydon, Nicole, Boulé, Michèle, Vojtek, Anne Marie, Amselem, Serge, Clément, Annick, Tamalet, Aline
Published in European journal of pediatrics (01.08.2013)
Published in European journal of pediatrics (01.08.2013)
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Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations
Papon, J F, Perrault, I, Coste, A, Louis, B, Gérard, X, Hanein, S, Fares-Taie, L, Gerber, S, Defoort-Dhellemmes, S, Vojtek, A M, Kaplan, J, Rozet, J M, Escudier, E
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
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Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report
Sinico, Martine, Bassez, Guillaume, Touboul, Claudine, Cavé, Helene, Vergnaud, Armand, Zirah, Clément, Fleury-Feith, Jocelyne, Gettler, Sylvain, Vojtek, Anne Marie, Chevalier, Nicole, Amram, Daniel, Alsamad, Issam Abd, Haddad, Bassam, Encha-Razavi, ferechté
Published in Pediatric and developmental pathology (01.05.2011)
Published in Pediatric and developmental pathology (01.05.2011)
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Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
Papon, J-F, Bassinet, LB, Cariou-Patron, GCP, Zerah-Lancner, FZL, Vojtek, AMV, Blanchon, SB, Crestani, BC, Amselem, SA, Coste, A, Housset, BH, Escudier, EE, Louis, BL
Published in Cilia (London) (16.11.2012)
Published in Cilia (London) (16.11.2012)
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
Legendre, M, Blanchon, S, Copin, B, Duquesnoy, P, Montantin, G, Kott, E, Dastot, F, Jeanson, L, Cachanado, M, Rousseau, A, Papon, JF, Tamalet, A, Vojtek, AM, Escalier, D, Coste, A, de Blic, J, Clément, A, Escudier, E, Amselem, S
Published in Cilia (16.11.2012)
Published in Cilia (16.11.2012)
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Conference Proceeding
Pulmonary alveolar proteinosis associated with Pneumocystis carinii. Ultrastructural identification in bronchoalveolar lavage in AIDS and immunocompromised non-AIDS patients
Tran Van Nhieu, J, Vojtek, A M, Bernaudin, J F, Escudier, E, Fleury-Feith, J
Published in Chest (01.10.1990)
Published in Chest (01.10.1990)
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