檢索結果 - Danielle Martinet
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Extent and Patterns of<i>MGMT</i>Promoter Methylation in Glioblastoma- and Respective Glioblastoma-Derived Spheres 由 Davide Sciuscio, Annie‐Claire Diserens, Kristof Van Dommelen, Danielle Martinet, Greg Jones, Robert-Charles Janzer, Claudio Pollo, Marie‐France Hamou, Bernd Kaina, Roger Stupp, Marc Levivier, Monika E. Hegi
出版 2010Artigo -
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A single epidermal stem cell strategy for safe <i>ex vivo</i> gene therapy 由 Stéphanie Droz‐Georget Lathion, Ariane Rochat, Graham Knott, Alessandra Recchia, Danielle Martinet, Sara Benmohammed, Nicolas Grasset, Andrea Zaffalon, Nathalie Besuchet Schmutz, Emmanuelle Savioz-Dayer, J. Beckmann, Jacques Rougemont, Fulvio Mavilio, Yann Barrandon
出版 2015Artigo -
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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia 由 Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, A Baxová, Karl‐Henrik Gustavson, Zvi Borochowitz, A. Micheil Innes, Sheila Unger, J. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti‐Furga, Ravi Savarirayan, Luisa Bonafé
出版 2009Artigo -
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant 由 Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibæk, Susanne Kjærgaard, Bruno Leheup, Danielle Martinet, Małgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, J. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sébastien Jacquemont, Nicholas Katsanis
出版 2013Artigo -
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Network-Guided Analysis of Genes with Altered Somatic Copy Number and Gene Expression Reveals Pathways Commonly Perturbed in Metastatic Melanoma 由 Armand Valsesia, Donata Rimoldi, Danielle Martinet, Mark Ibberson, Paola Benaglio, Manfredo Quadroni, Patrice Waridel, Muriel Gaillard, Mireille Pidoux, Blandine Rapin, Carlo Rivolta, Ioannis Xénarios, Andrew J.G. Simpson, Stylianos E. Antonarakis, J. Beckmann, C. Victor Jongeneel, Christian Iseli, Brian J. Stevenson
出版 2011Artigo -
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IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation 由 Florence Fellmann, Federica Angelini, Jacqueline Wassenberg, Matthieu Perreau, Natalia Arenas-Ramirez, Gregoire Simon, Onur Boyman, Olivier Demaria, Stéphanie Christen‐Zaech, Daniel Hohl, Marco Belfiore, Annette von Scheven-Gête, Michel Gilliet, Pierre‐Yves Bochud, Yannick Perrin, Maya Beck Popovic, Pierre‐Alexandre Bart, J. Beckmann, Danielle Martinet, Michaël Hofer
出版 2015Artigo -
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A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia 由 Min Zhao, Charlotte Andrieu‐Soler, Laura Kowalczuk, María Paz Cortés, Marianne Berdugo, Marilyn Dernigoghossian, Francisco Halili, Jean‐Claude Jeanny, Brigitte Goldenberg, Michèle Savoldelli, Mohamed El Sanharawi, Marie‐Christine Naud, Wilfred F. J. van IJcken, Rosanna Pescini Gobert, Danielle Martinet, Alejandro Maass, Jan Wijnholds, Patricia Crisanti, Carlo Rivolta, Francine Béhar‐Cohen
出版 2015Artigo -
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Presence of an oligodendroglioma-like component in newly diagnosed glioblastoma identifies a pathogenetically heterogeneous subgroup and lacks prognostic value: central pathology r... 由 Monika E. Hegi, Robert-Charles Janzer, Wanyu L. Lambiv, Thierry Gorlia, Mathilde C.M. Kouwenhoven, Christian Hartmann, Andreas von Deimling, Danielle Martinet, Nathalie Besuchet Schmutz, Annie‐Claire Diserens, Marie‐France Hamou, Pierre Bady, Michael Weller, Martin J. van den Bent, Warren Mason, René‐Olivier Mirimanoff, Roger Stupp, Karima Mokhtari, Pieter Wesseling
出版 2012Artigo -
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Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization 由 Cheryl DeScipio, Laura K. Conlin, Jill A. Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein, Marianne McGuire, Surabhi Mulchandani, Līvija Medne, Rosemarie Rupps, Alvaro Serrano, Erik C. Thorland, Anne Chun‐Hui Tsai, Yvonne Hilhorst‐Hofstee, Claudia Ruivenkamp, Hilde Van Esch, Marie‐Claude Addor, Danielle Martinet, Thornton B.A. Mason, Dinah Clark, Nancy B. Spinner, Ian D. Krantz
出版 2012Artigo -
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The phenotype of recurrent 10q22q23 deletions and duplications 由 Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries
出版 2011Artigo -
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders 由 Flore Zufferey, Elliott H. Sherr, Noam D. Beckmann, Ellen Hanson, Anne Maillard, Loyse Hippolyte, Aurélien Mace, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Elizabeth Aylward, Mandy Barker, Raphael Bernier, Sonia Bouquillon, Philippe Conus, Bruno Delobel, W. Andrew Faucett, Robin P. Goin‐Kochel, P. Ellen Grant, Louise Harewood, Jill V. Hunter, Sébastien Lebon, David H. Ledbetter, Alastair J. Martin, Katrin Männik, Danielle Martinet, Pratik Mukherjee, Melissa B. Ramocki, Sarah Spence, Kyle J. Steinman, Jennifer Tjernagel, John E. Spiro, Alexandre Reymond, J. Beckmann, Wendy K. Chung, Sébastien Jacquemont
出版 2012Artigo -
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats 由 Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, J. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann Martin, Suneeta Madan‐Khetarpal, Jacqueline M. Hoover, Līvija Medne, Carsten G. Bönnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie Banks, David B. Flannery, Carolyn Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean P. Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung‐Hae Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer
出版 2011Artigo -
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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology 由 Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, J. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Eugenia Migliavacca, Katrin Männik, Louise Harewood, Maria Nicla Loviglio, Robert M. Witwicki, Gérard Didelot, Ilse van der Werf, Ali Abdullah Alfaiz, Marianna Zazhytska, Giuliana Giannuzzi, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltán Kutalik, Loyse Hippolyte, Anne Maillard, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Béna, Anita Rauch, Sonia Bouquillon, Joris Andrieux, Bruno Delobel, Odile Boute, Bénédicte Duban‐Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiésa, Boris Keren, Brigitte Gilbert‐Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck, Michèle Mathieu‐Dramard, Ghislaine Plessis, R. Frank Kooy, Hilde Peeters, Katrin Õunap, Anneke T. Vulto‐van Silfhout, Bert Ba de Vries, Ellen van Binsbergen, Mieke M. van Haelst, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan‐Separovic, John A. Philipps, Richard J. Ellis, J. Beckmann, Sébastien Jacquemont, Alexandre Reymond
出版 2015Artigo -
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 由 Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann
出版 2010Artigo -
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus 由 Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas
出版 2011Artigo
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