Хайлтын үр дүнгүүд - Pierre Lindenbaum

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  1. 1
    In vivo and in vitro phosphorylation of rotavirus NSP5 correlates with its localization in viroplasms

    In vivo and in vitro phosphorylation of rotavirus NSP5 correlates with its localization in viroplasms -н Didier Poncet, Pierre Lindenbaum, R. L’Haridon, J. Cohen

    Хэвлэсэн 1997
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    Artigo
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  2. 2
    Acknowledging contributions to online expert assistance

    Acknowledging contributions to online expert assistance -н Simon Cockell, Pierre Lindenbaum, Daniel Silvestre, Giovanni Marco Dall’Olio, Andra Waagmeester, Gareth Palidwor, Paweł Szczęsny, István Albert, Mary Mangan, Chris Miller, Chris Miller

    Хэвлэсэн 2011
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  3. 3
    Acknowledging contributions to online expert assistance

    Acknowledging contributions to online expert assistance -н Andra Waagmeester, Simon Cockell, Pierre Lindenbaum, Daniel Silvestre, Giovanni Marco Dall’Olio, Andra Waagmeester, Gareth Palidwor, Paweł Szczęsny, István Albert, Mary Mangan, Chris T. Evelo, Chris Miller

    Хэвлэсэн 2011
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  4. 4
    Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

    Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing -н Émilie Lecomte, Benoît Tournaire, Benjamin Cogné, Jean‐Baptiste Dupont, Pierre Lindenbaum, Mélanie Martin-Fontaine, Frédéric Broucque, Cécile Robin, Matthias Hebben, Otto‐Wilhelm Merten, Véronique Blouin, Achille François, Richard Redon, Philippe Moullier, Adrien Léger

    Хэвлэсэн 2015
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    Artigo
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  5. 5
    Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

    Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I -н Xavier Daumy, Mohamed‐Yassine Amarouch, Pierre Lindenbaum, Stéphanie Bonnaud, Éric Charpentier, Beatrice Bianchi, Sabine Nafzger, Estelle Baron, Swanny Fouchard, Aurélie Thollet, Florence Kyndt, Julien Barc, Solena Le Scouarnec, Naomasa Makita, Hervé Le Marec, Christian Dina, Jean‐Baptiste Gourraud, Vincent Probst, Hugues Abriel, Richard Redon, Jean‐Jacques Schott

    Хэвлэсэн 2016
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  6. 6
    Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

    Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome -н Solena Le Scouarnec, Matilde Karakachoff, Jean‐Baptiste Gourraud, Pierre Lindenbaum, Stéphanie Bonnaud, Vincent Portero, Laëtitia Duboscq-Bidot, Xavier Daumy, Floriane Simonet, Raluca Teusan, Estelle Baron, Jade Violleau, Elodie Persyn, Lise Bellanger, Julien Barc, Stéphanie Chatel, Raphaël P. Martins, Philippe Mabo, Frédéric Sacher, Michel Haı̈ssaguerre, Florence Kyndt, Sébastien Schmitt, Stéphane Bézieau, Hervé Le Marec, Christian Dina, Jean‐Jacques Schott, Vincent Probst, Richard Redon

    Хэвлэсэн 2015
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  7. 7
    Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

    Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis -н Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou‐Hanna, Nathalie Bodak, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Dominique Figarella‐Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Münnich, Jean‐Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort‐Campana, Mauro Santibanez‐Koref, Christel Thauvin, S. Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi

    Хэвлэсэн 2013
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  8. 8
    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability

    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability -н Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xénia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Éric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau

    Хэвлэсэн 2016
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  9. 9
    TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

    TAD boundary deletion causes PITX2-related cardiac electrical and structural defects -н 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, A 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, C Vieyres, Takeru Makiyama, Stefan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean‐Jacques Schott, Julien Barc

    Хэвлэсэн 2024
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  10. 10
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease -н Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    Хэвлэсэн 2018
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  11. 11
    Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

    Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy -н Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne‐Sophie Denommé‐Pichon, Patrizia Amati‐Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Antonio Miranda‐Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier -Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault, Delphine Bacq, Anne Boland, Doris Lechner

    Хэвлэсэн 2016
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  12. 12
    Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

    Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death -н Connie R. Bezzina, Julien Barc, Yuka Mizusawa, Carol Ann Remme, Jean‐Baptiste Gourraud, Floriane Simonet, Arie O. Verkerk, Peter J. Schwartz, Lia Crotti, Federica Dagradi, Pascale Guicheney, Véronique Fressart, Antoine Leenhardt, Charles Antzelevitch, S. Bartkowiak, Martin Borggrefe, Rainer Schimpf, Eric Schulze‐Bahr, Sven Zumhagen, Elijah R. Behr, Rachel Bastiaenen, Jacob Tfelt‐Hansen, Morten S. Olesen, Stefan Kääb, Britt Maria Beckmann, Peter Weeke, Hiroshi Watanabe, Naoto Endo, Tohru Minamino, Minoru Horie, Seiko Ohno, Kanae Hasegawa, Naomasa Makita, Akihiko Nogami, Wataru Shimizu, Takeshi Aiba, Philippe Froguel, Beverley Balkau, Olivier Lantieri, Margherita Torchio, Cornelia Wiese, David Weber, Rianne Wolswinkel, Ruben Coronel, Bastiaan J. Boukens, Stéphane Bézieau, Éric Charpentier, Stéphanie Chatel, Aurore Després, F Gros, Florence Kyndt, Simon Lecointe, Pierre Lindenbaum, Vincent Portero, Jade Violleau, Manfred Gessler, Hanno L. Tan, Dan M. Roden, Vincent M. Christoffels, Hervé Le Marec, Arthur A.M. Wilde, Vincent Probst, Jean‐Jacques Schott, Christian Dina, Richard Redon

    Хэвлэсэн 2013
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  13. 13
    Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

    Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm -н Romain Bourcier, Solena Le Scouarnec, Stéphanie Bonnaud, Matilde Karakachoff, Emmanuelle Bourcereau, Sandrine Heurtebise-Chrétien, Céline Menguy, Christian Dina, Floriane Simonet, Alexis Moles, Cédric Lenoble, Pierre Lindenbaum, Stéphanie Chatel, Bertrand Isidor, Emmanuelle Génin, Jean‐François Deleuze, Jean‐Jacques Schott, Hervé Le Marec, Gervaise Loirand, Hubert Desal, Richard Redon, Hubert Desal, Romain Bourcier, Benjamin Daumas-Duport, Bertrand Isidor, Jérôme Connault, Pierre Lebranchu, Thierry Le Tourneau, Marie Pierre Viarouge, Chrysanthi Papagiannaki, Michel Piotin, Hocine Redjem, Mikaël Mazighi, Jean‐Philippe Désilles, Olivier Naggara, Denis Trystram, Myriam Edjlali, Christine Rodriguez, Waghi Ben Hassen, Suzanna Saleme, Charbel Mounayer, O. Lévrier, Pierre Aguettaz, X. Combaz, A. Pasco, E. Berthier, Marc Bintner, M. Molho, Pascale Gauthier, Cyril Chivot, Vincent Costalat, Cyril Darganzil, Alain Bonafé, Anne Christine Januel, Caterina Michelozzi, Christophe Cognard, Fabrice Bonneville, Philippe Tall, Jean Darcourt, Alessandra Biondi, Cristina Iosif, Elisa Pomero, Jean‐Christophe Ferré, J.Y. Gauvrit, François Eugene, Hélène Raoult, Jean‐Christophe Gentric, Julien Ognard, René Anxionnat, Serge Bracard, Anne Laure Derelle, Romain Tonnelet, Laurent Spelle, Léon Ikka, Robert Fahed, Aymeric Rouchaud, Augustin Ozanne, Jildaz Caroff, Nidal Ben Achour, Jacques Moret, Emmanuel Chabert, Jérôme Berge, Gaultier Marnat, Xavier Barreau, Florent Gariel, Frédéric Clarençon, M. Aggour, Frédéric Ricolfi, Adrien Chavent, Pierre Thouant, Pablo Lebidinsky, Brivael Lemogne, Denis Herbreteau, Richard Bibi, Laurent Pierot, Sébastien Soize, Marc Antoine Labeyrie, Christophe Vandendries, Emmanuel Houdart, Appoline Kazemi

    Хэвлэсэн 2018
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  14. 14
    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability -н Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan A. Bernstein, Anne‐Sophie Denommé‐Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind L. Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew A. Deardorff, George Hoganson, Katherine B. Bosanko, Diana Johnson, Tabib Dabir, Øystein L. Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn A. Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Éric Charpentier, C. Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Donna M. Brown, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert‐Dussardier, Annick Toutain, V. Reid Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen‐Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal

    Хэвлэсэн 2017
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  15. 15
    Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

    Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly -н Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi‐Rozé, Hélène Guyodo, Jérôme Le Douce, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean-François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier-Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault, Delphine Bacq, Anne Boland, Doris Lechner, Cisca Wijmenga, Morris A. Swertz, P. Eline Slagboom, Gert‐Jan B. van Ommen, Cornelia M. van Duijn, Dorret I. Boomsma, Paul I. W. de Bakker, Jasper Bovenberg, P. Eline Slagboom, Anton J.M. de Craen, Marian Beekman, Albert Hofman, Dorret I. Boomsma, Gonneke Willemsen, Bruce H. R. Wolffenbuttel, Mathieu Platteel, Yuanping Du, Ruoyan Chen, Hongzhi Cao, Rui Cao, Yushen Sun, Jeremy Sujie Cao, Morris A. Swertz, Freerk van Dijk, Pieter B. Neerincx, Patrick Deelen, Martijn Dijkstra, George Byelas, Alexandros Kanterakis, Jan Bot, Kai Ye, Eric-Wubbo Lameijer, Martijn Vermaat, Jeroen F. J. Laros, Johan T. den Dunnen, Peter de Knijff, Lennart C. Karssen, Elisa M. van Leeuwen, Najaf Amin, Vyacheslav Koval, Fernando Rivadeneira, Karol Estrada, Jayne Y. Hehir‐Kwa, Joep de Ligt, Abdel Abdellaoui, Jouke‐Jan Hottenga, V Mathijs Kattenberg, David van Enckevort, Hailiang Mei, Mark Santcroos, Barbera D. C. van Schaik, Robert E. Handsaker, Steven A. McCarroll, Evan E. Eichler, Arthur Ko, Peter H. Sudmant, Laurent C. Francioli, Wigard P. Kloosterman, Isaäc J. Nijman, Victor Guryev, Paul I. W. de Bakker, Laurent Pasquier, Elisabeth Flori, Marie Gonzalès, Claire Bénéteau, Odile Boute, Tania Attié‐Bitach

    Хэвлэсэн 2018
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