Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
Sébillon, P, Bouchier, C, Bidot, L D, Bonne, G, Ahamed, K, Charron, P, Drouin-Garraud, V, Millaire, A, Desrumeaux, G, Benaïche, A, Charniot, J-C, Schwartz, K, Villard, E, Komajda, M
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey
Charron, P, Villard, E, Sébillon, P, Laforêt, P, Maisonobe, T, Duboscq-Bidot, L, Romero, N, Drouin-Garraud, V, Frébourg, T, Richard, P, Eymard, B, Komajda, M
Published in Heart (British Cardiac Society) (01.08.2004)
Published in Heart (British Cardiac Society) (01.08.2004)
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COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes
Flavigny, Jeanne, Souchet, Michel, Sébillon, Pascale, Berrebi-Bertrand, Isabelle, Hainque, Bernard, Mallet, Alain, Bril, Antoine, Schwartz, Ketty, Carrier, Lucie
Published in Journal of molecular biology (26.11.1999)
Published in Journal of molecular biology (26.11.1999)
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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
Postma, A V, Denjoy, I, Kamblock, J, Alders, M, Lupoglazoff, J-M, Vaksmann, G, Dubosq-Bidot, L, Sebillon, P, Mannens, M M A M, Guicheney, P, Wilde, A A M
Published in Journal of medical genetics (01.11.2005)
Published in Journal of medical genetics (01.11.2005)
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Journal Article
Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey
Charron, P, Villard, E, Sébillon, P, Laforêt, P, Maisonobe, T, Duboscq-Bidot, L, Romero, N, Drouin-Garraud, V, Frébourg, T, Richard, P, Eymard, B, Komajda, M
Published in Journal of medical genetics (01.10.2004)
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Published in Journal of medical genetics (01.10.2004)
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A T to G mutation in the polypyrimidine tract of the second intron of the human β-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction
Sébillon, Pascale, Beldjord, Chérif, Kaplan, Jean-Claude, Brody, Edward, Marie, Joēlle
Published in Nucleic acids research (11.09.1995)
Published in Nucleic acids research (11.09.1995)
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Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease
Laforêt, P, Charron, P, Maisonobe, T, Romero, N B, Villard, E, Sebillon, P, Drouin-Garraud, V, Dubourg, O, Fardeau, M, Komajda, M, Eymard, B
Published in Neurology (26.10.2004)
Published in Neurology (26.10.2004)
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COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization
Sébillon, Pascale, Bonne, Gisèle, Flavigny, Jeanne, Venin, Sophie, Rouche, Andrée, Fiszman, Marc, Vikstrom, Karen, Leinwand, Leslie, Carrier, Lucie, Schwartz, Ketty
Published in Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie (01.03.2001)
Published in Comptes rendus de l'Académie des sciences, Série III, Sciences de la vie (01.03.2001)
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Journal Article
Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia
Postma, Alex V, Denjoy, Isabelle, Hoorntje, Theo M, Lupoglazoff, Jean-Marc, Da Costa, Antoine, Sebillon, Pascale, Mannens, Marcel M.A.M, Wilde, Arthur A.M, Guicheney, Pascale
Published in Circulation research (18.10.2002)
Published in Circulation research (18.10.2002)
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Influence of mobilized stem cells on myocardial infarct repair in a nonhuman primate model
Norol, Françoise, Merlet, Pascal, Isnard, Richard, Sebillon, Pascale, Bonnet, Nicolas, Cailliot, Christian, Carrion, Claire, Ribeiro, Maria, Charlotte, Frédéric, Pradeau, Pascal, Mayol, Jean-François, Peinnequin, André, Drouet, Michel, Safsafi, Karima, Vernant, Jean-Paul, Herodin, Francis
Published in Blood (15.12.2003)
Published in Blood (15.12.2003)
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Journal Article
Functional consequences of an LMNA mutation associated with a new cardiac and non‐cardiac phenotype
Charniot, Jean‐Christophe, Pascal, Cécile, Bouchier, Christiane, Sébillon, Pascale, Salama, Jeffrey, Duboscq‐Bidot, Laëtitia, Peuchmaurd, Mireille, Desnos, Michel, Artigou, Jean‐Yves, Komajda, Michel
Published in Human mutation (01.05.2003)
Published in Human mutation (01.05.2003)
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Detection of the most frequent beta-thalassemic defect in Southeast Asia by PCR
Sebillon, P, Bienvenu, T, Girot, R, Labie, D, Kaplan, J C, Beldjord, C
Published in Hemoglobin (1991)
Published in Hemoglobin (1991)
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Mutational analysis of the β- and δ-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy
Sylvius, Nicolas, Duboscq-Bidot, Laetitia, Bouchier, Christiane, Charron, Philippe, Benaiche, Abdelaziz, Sébillon, Pascale, Komajda, Michel, Villard, Eric
Published in American journal of medical genetics. Part A (01.07.2003)
Published in American journal of medical genetics. Part A (01.07.2003)
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Journal Article
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and unctional consequences of these mutations
SEBILLON, P, BOUCHIER, C, CHARNIOT, J-C, SCHWARTZ, K, VILLARD, E, KOMAJDA, M, BIDOT, L. D, BONNE, G, AHAMED, K, CHARRON, P, DROUIN-GARRAUD, V, MILLAIRE, A, DESRUMEAUX, G, BENAÏCHE, A
Published in Journal of medical genetics (2003)
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Published in Journal of medical genetics (2003)
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