Результати пошуку - Sandrine Passemard

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  1. 1
    Golgipathies in Neurodevelopment: A New View of Old Defects

    Golgipathies in Neurodevelopment: A New View of Old Defects за авторством Sowmyalakshmí Rasika, Sandrine Passemard, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi

    Опубліковано 2018
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  2. 2
    Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”

    Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies” за авторством Sandrine Passemard, Franck Perez, Emilie Colin-Lemesre, Sowmyalakshmí Rasika, Pierre Gressèns, Vincent El Ghouzzi

    Опубліковано 2017
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  3. 3
    Neuroprotective Effects of Dexmedetomidine against Glutamate Agonist-induced Neuronal Cell Death Are Related to Increased Astrocyte Brain-derived Neurotrophic Factor Expression

    Neuroprotective Effects of Dexmedetomidine against Glutamate Agonist-induced Neuronal Cell Death Are Related to Increased Astrocyte Brain-derived Neurotrophic Factor Expression за авторством Vincent Degos, Tifenn Le Charpentier, Vibol Chhor, Olivier Brissaud, Sophie Lebon, Leslie Schwendimann, Nathalie Bednareck, Sandrine Passemard, Jean Mantz, Pierre Gressèns

    Опубліковано 2013
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  4. 4
    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons за авторством Brian Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie Bielas

    Опубліковано 2016
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  5. 5
    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy за авторством Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, M. Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Østergaard, Alain Verloès, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

    Опубліковано 2015
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  6. 6
    ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

    ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53 за авторством Vincent El Ghouzzi, F. Bianchi, Ivan Molineris, Bryan C. Mounce, Gaia Berto, Malgorzata Rak, Sophie Lebon, Laëtitia Aubry, Chiara Tocco, Marta Gai, Alessandra MA Chiotto, Francesco Sgrò, Gianmarco Pallavicini, Etienne Simon‐Lorière, Sandrine Passemard, Marco Vignuzzi, Pierre Gressèns, Ferdinando Di Cunto

    Опубліковано 2016
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  7. 7
    WDR62 is associated with the spindle pole and is mutated in human microcephaly

    WDR62 is associated with the spindle pole and is mutated in human microcephaly за авторством Adeline K. Nicholas, Maryam Khurshid, Julie Désir, Ofélia P. Carvalho, James J. Cox, Gemma Thornton, Rizwana Kausar, Muhammad Ansar, Wasim Ahmad, Alain Verloès, Sandrine Passemard, Jean-Paul Misson, Susan Lindsay, Fanni Gergely, William B. Dobyns, Emma Roberts, Marc Abramowicz, C. Geoffrey Woods

    Опубліковано 2010
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  8. 8
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A за авторством Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    Опубліковано 2015
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  9. 9
    Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

    Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia за авторством Dominique Hervé, Anne Philippi, Reda Belbouab, Michel Zérah, Stéphane Chabrier, Sophie Collardeau‐Frachon, Françoise Bergametti, Aurore Essongue, Eliane Berrou, Valérie Krivosic, Christian Sainte‐Rose, Emmanuel Houdart, Frédéric Adam, Kareen Billiemaz, Marilyne Lebret, Sabine Roman, Sandrine Passemard, Gwénola Boulday, Audrey Delaforge, Stéphanie Guey, Xavier Dray, Hugues Chabriat, Peter Brouckaert, Marijke Bryckaert, Elisabeth Tournier‐Lasserve

    Опубліковано 2014
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  10. 10
    ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

    ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects за авторством Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee‐Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa, Adeline Jacquinet, Yusuke Yamazumi, Shu-Ting Chen, Alain Verloès, Yuki Okada, Yuki Katou, Tomohiko Nakamura, Tetsu Akiyama, Pierre Gressèns, Roger Foo, Sandrine Passemard, Ene‐Choo Tan, Vincent El Ghouzzi, Katsuhiko Shirahige

    Опубліковано 2016
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  11. 11
    Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

    Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities за авторством Martin W. Breuss, Julian Ik‐Tsen Heng, Karine Poirier, Guoling Tian, Xavier H. Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi‐Buisson, Marie‐Laure Moutard, Sandrine Passemard, Alain Verloès, Pierre Gressèns, Yunli Xie, Kathryn Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    Опубліковано 2012
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  12. 12
    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly за авторством Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello‐Burri, Frenny Sheth, Chaitanya Datar, Ishwar C. Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann‐Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro‐Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn A. Lincoln, Lance H. Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloès, Anselm H. C. Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar G. Jenni, Reza Asadollahi, Anita Rauch

    Опубліковано 2019
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  13. 13
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update за авторством Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Опубліковано 2017
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  14. 14
    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features за авторством Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer

    Опубліковано 2012
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  15. 15
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome за авторством Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron

    Опубліковано 2017
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  16. 16
    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU за авторством Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

    Опубліковано 2017
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