Hasil Pencarian - Jean‐Jacques Schott
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DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease. oleh Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
Diterbitkan 2017-01-01
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A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1 oleh Malak Alameh, Malak Alameh, Barbara Ribeiro Oliveira-Mendes, Florence Kyndt, Jordan Rivron, Isabelle Denjoy, Florian Lesage, Jean-Jacques Schott, Michel De Waard, Michel De Waard, Gildas Loussouarn
Diterbitkan 2023-02-01
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Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel. oleh Hui Liu, Stéphanie Chatel, Christophe Simard, Ninda Syam, Laurent Salle, Vincent Probst, Julie Morel, Gilles Millat, Michel Lopez, Hugues Abriel, Jean-Jacques Schott, Romain Guinamard, Patrice Bouvagnet
Diterbitkan 2013-01-01
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Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block oleh Ninda Syam, Stéphanie Chatel, Lijo Cherian Ozhathil, Valentin Sottas, Jean‐Sébastien Rougier, Alban Baruteau, Estelle Baron, Mohamed‐Yassine Amarouch, Xavier Daumy, Vincent Probst, Jean‐Jacques Schott, Hugues Abriel
Diterbitkan 2016-05-01
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Genetics and pathophysiology of mitral valve prolapse oleh Constance Delwarde, Romain Capoulade, Jean Mérot, Solena Le Scouarnec, Nabila Bouatia-Naji, Mengyao Yu, Olivier Huttin, Christine Selton-Suty, Jean-Marc Sellal, Nicolas Piriou, Jean-Jacques Schott, Christian Dina, Thierry Le Tourneau
Diterbitkan 2023-02-01
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Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line oleh Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau, Manon Baudic, Estelle Baron, Anne Bibonne, Caroline Chariau, Florence Kyndt, Richard Redon, Jean-Jacques Schott, Jean-Baptiste Gourraud, Julien Barc, Flavien Charpentier
Diterbitkan 2024-06-01
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A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity oleh Barbara Oliveira‐Mendes, Sylvain Feliciangeli, Mélissa Ménard, Frank Chatelain, Malak Alameh, Jérôme Montnach, Sébastien Nicolas, Béatrice Ollivier, Julien Barc, Isabelle Baró, Jean‐Jacques Schott, Vincent Probst, Florence Kyndt, Isabelle Denjoy, Florian Lesage, Gildas Loussouarn, Michel De Waard
Diterbitkan 2021-11-01
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Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. oleh Anne-Laure Leoni, Bruno Gavillet, Jean-Sébastien Rougier, Céline Marionneau, Vincent Probst, Solena Le Scouarnec, Jean-Jacques Schott, Sophie Demolombe, Patrick Bruneval, Christopher L H Huang, William H Colledge, Andrew A Grace, Hervé Le Marec, Arthur A Wilde, Peter J Mohler, Denis Escande, Hugues Abriel, Flavien Charpentier
Diterbitkan 2010-02-01
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Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms? oleh Virginie Vignard, Alban-Elouen Baruteau, Alban-Elouen Baruteau, Alban-Elouen Baruteau, Bérénice Toutain, Sandra Mercier, Sandra Mercier, Bertrand Isidor, Bertrand Isidor, Richard Redon, Jean-Jacques Schott, Sébastien Küry, Sébastien Küry, Stéphane Bézieau, Stéphane Bézieau, Anne H. Monsoro-Burq, Anne H. Monsoro-Burq, Anne H. Monsoro-Burq, Frédéric Ebstein
Diterbitkan 2024-07-01
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A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype oleh Zeina R. Al Sayed, Mariam Jouni, Jean‐Baptiste Gourraud, Nadjet Belbachir, Julien Barc, Aurore Girardeau, Virginie Forest, Aude Derevier, Anne Gaignerie, Caroline Chariau, Bastien Cimarosti, Robin Canac, Pierre Olchesqui, Eric Charpentier, Jean‐Jacques Schott, Richard Redon, Isabelle Baró, Vincent Probst, Flavien Charpentier, Gildas Loussouarn, Kazem Zibara, Guillaume Lamirault, Patricia Lemarchand, Nathalie Gaborit
Diterbitkan 2021-06-01
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Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome oleh Vincent Portero, Solena Le Scouarnec, Zeineb Es‐Salah‐Lamoureux, Sophie Burel, Jean‐Baptiste Gourraud, Stéphanie Bonnaud, Pierre Lindenbaum, Floriane Simonet, Jade Violleau, Estelle Baron, Eléonore Moreau, Carol Scott, Stéphanie Chatel, Gildas Loussouarn, Thomas O'Hara, Philippe Mabo, Christian Dina, Hervé Le Marec, Jean‐Jacques Schott, Vincent Probst, Isabelle Baró, Céline Marionneau, Flavien Charpentier, Richard Redon
Diterbitkan 2016-06-01
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Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes oleh Nobue Yagihara, Hiroshi Watanabe, Phil Barnett, Laetitia Duboscq‐Bidot, Atack C. Thomas, Ping Yang, Seiko Ohno, Kanae Hasegawa, Ryozo Kuwano, Stéphanie Chatel, Richard Redon, Jean‐Jacques Schott, Vincent Probst, Tamara T. Koopmann, Connie R. Bezzina, Arthur A. M. Wilde, Yukiko Nakano, Takeshi Aiba, Yoshihiro Miyamoto, Shiro Kamakura, Dawood Darbar, Brian S. Donahue, Daichi Shigemizu, Toshihiro Tanaka, Tatsuhiko Tsunoda, Masayoshi Suda, Akinori Sato, Tohru Minamino, Naoto Endo, Wataru Shimizu, Minoru Horie, Dan M. Roden, Naomasa Makita
Diterbitkan 2016-09-01
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Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. oleh Elijah R Behr, Marylyn D Ritchie, Toshihiro Tanaka, Stefan Kääb, Dana C Crawford, Paola Nicoletti, Aris Floratos, Moritz F Sinner, Prince J Kannankeril, Arthur A M Wilde, Connie R Bezzina, Eric Schulze-Bahr, Sven Zumhagen, Pascale Guicheney, Nanette H Bishopric, Vanessa Marshall, Saad Shakir, Chrysoula Dalageorgou, Steve Bevan, Yalda Jamshidi, Rachel Bastiaenen, Robert J Myerburg, Jean-Jacques Schott, A John Camm, Gerhard Steinbeck, Kris Norris, Russ B Altman, Nicholas P Tatonetti, Steve Jeffery, Michiaki Kubo, Yusuke Nakamura, Yufeng Shen, Alfred L George, Dan M Roden
Diterbitkan 2013-01-01
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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects oleh Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
Diterbitkan 2024-04-01
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Human genetic structure in Northwest France provides new insights into West European historical demography oleh Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina
Diterbitkan 2024-08-01
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