检索结果 - Isabelle Marey

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  1. 1
    Acute Regression in Young People with Down Syndrome

    Acute Regression in Young People with Down Syndrome 由 Clotilde Mircher, Cécile Cieuta‐Walti, Isabelle Marey, Anne‐Sophie Rebillat, L Cretu, Eliane Milenko, Martine Conte, Franck Sturtz, M O Rethoré, Aimé Ravel

    出版 2017
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  2. 2
    Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study

    Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study 由 Brigitte Fauroux, Silvia Sacco, V. Couloigner, Alessandro Amaddeo, Aimé Ravel, Emmanuelle Prioux, Jeanne Toulas, Cécile Cieuta‐Walti, Hervé Walti, Romain Luscan, Ségolène Falquero, Manon Clert, Marie-Anne Caillaud, Livio De Sanctis, Sonia Khirani, Isabelle Marey, Clotilde Mircher

    出版 2024
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  3. 3
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients 由 Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    出版 2017
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  4. 4
    Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

    Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype 由 Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D. Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec‐Głąbik, Soroor Hediyeh-zadeh, Maria Kasherman, Woo Jun Shim, Enakshi Sinniah, Laura A. Genovesi, Rannvá K. Abrahamsen, Christina Fenger, Charlotte Madsen, Julie S. Cohen, Ali Fatemi, Zornitza Stark, Sebastian Lunke, Joy Lee, Jonas Hansen, Martin Faber Boxill, Boris Keren, Isabelle Marey, Margarita Sáenz, Kathleen Brown, Suzanne Alexander, Sergey Mureev, Alina Batzilla, Melissa J. Davis, Michael Piper, Mikael Bodén, Thomas H.J. Burne, Nathan J. Palpant, Rikke S. Møller, Sebastian Glatt, Brandon J. Wainwright

    出版 2021
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  5. 5
    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy 由 Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava, Alice Masurel, Thibaud Jouan, Floor E. Jansen, Margaret Au, Agnes H. Chen, M. Cho, Yannis Duffourd, Ekaterina Lozier, Fedor A. Konovalov, Artem Sharkov, С. А. Коростелев, Benoit Urteaga, Patricia Dickson, M. Concepcion Nuñez Pardo de Vera, Julian A. Martínez‐Agosto, Anaïs Begemann, Markus Zweier, Thomas Schmitt‐Mechelke, Anita Rauch, Christophe Philippe, Koen L.I. van Gassen, S. F. Nelson, John M. Graham, Jennifer Friedman, Laurence Faivre, Henry J. Lin, Christel Thauvin‐Robinet, Antonio Vitobello

    出版 2018
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  6. 6
    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature 由 Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

    出版 2019
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    Revisão
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  7. 7
    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy

    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy 由 Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaëtan Lesca, Agnès Rastetter, Benoît Gachet, Yannick Marie, Georg Christoph Korenke, Ingo Borggraefe, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Mariola Rudzka‐Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Rieß, Stefanie Beck‐Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, М. Б. Миронов, M. Yu. Bobylоva, К. Yu. Мukhin, Laura Hernandez‐Hernandez, Bridget H. Maher, Sanjay M. Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T. Myers, Heather C. Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R. Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

    出版 2016
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  8. 8
    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) 由 Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al‐Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely N. James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, M. Mayer, Jennifer McEvoy‐Venneri, André Mégarbané, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, C. Mignon Ravix, Arndt Rolfs, Abdelrahim A. Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stéphanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann‐Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

    出版 2018
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  9. 9
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

    A framework to identify contributing genes in patients with Phelan-McDermid syndrome 由 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

    出版 2017
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  10. 10
    Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

    Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype 由 Lou Grangeon, David Wallon, Camille Charbonnier, Olivier Quenez, Anne‐Claire Richard, Stéphane Rousseau, Clara Budowski, Thibaud Lebouvier, Anne-Gaëlle Corbillé, Marie Vidailhet, Aurélie Méneret, Emmanuel Roze, Mathieu Anheim, Christine Tranchant, Pascal Favrole, Jean‐Christophe Antoine, Luc Defebvre, Xavier Ayrignac, Pierre Labauge, Jérémie Pariente, Michel Clanet, David Maltête, Anne Rovelet‐Lecrux, Anne Boland, Jean‐François Deleuze, Pascal Favrole, Christophe Verny, Pierre Krystkowiak, Ludivine Chamard, Sébastien Moutton, Cyril Goizet, Claude Férec, Serge Timsit, S. Schaeffer, Nathalie Derache, Gilles Defer, Franck Durif, François Sellal, Olivier Rouaud, Christel Thauvin‐Robinet, Stéphanie Cubizolle, Mathilde Sauvée, Amélie Leblanc, Alexis Demas, Alice Poisson, Elisabeth Tournier‐Lasserve, Dominique Hervé, Hugues Chabriat, Guillaume Grolez, Nicolas Carrière, Luc Defebvre, Thibaud Lebouvier, Tatiana Witjas, Jean‐Philippe Azulay, Frédérique Fluchère, Mira Didic, Karine Nguyen, Mahmoud Charif, Xavier Ayrignac, Pierre Labauge, C. Lionnet, Cécilia Marelli, Simon Gaud, Tiphaine Rouaud, Brice Laurens, Emmanuelle Folgoas, Bertrand Isidor, Jean Chiésa, Maud Pallix-Guyot, Nicolas Gaillard, Nadège Olivier, Snejana Jurici, Isabelle Marey, Perrine Charles, Claire Ewenczyck, Alexandra Dürr, Cécile Hubsch, Aurélie Méneret, Marie Vidailhet, Yann Nadjar, Isabelle Le Ber, David Grabli, Emmanuel Roze, Vincent Navarro, Sylvie Mecharles-Darrigol, Julien Lagarde, Marie Sarazin, Marc Vérin, Romain Lefaucheur, David Maltête, David Wallon, Didier Hannequin, Olivier Martinaud, Lucie Guyant‐Maréchal, Gaël Nicolas, Thierry Frébourg, Anne‐Claire Richard, Dominique Campion, Olivier Guillin, Marion Yger

    出版 2019
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  11. 11
    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures 由 Yoko Itō, Keren Carss, Sofia Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis‐Juan, Hans van Bokhoven, Anthony van Essen, Conny M.A. van Ravenswaaij‐Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond, Timothy J. Aitman, David Bennett, Mark J. Caulfield, Patrick F. Chinnery, Daniel P. Gale, Ania Koziell, Taco W. Kuijpers, Michael Laffan, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, Willem H. Ouwehand, David J. Perry, F. Lucy Raymond, Irene Roberts, Kenneth G. C. Smith, Adrian J. Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R. Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Christopher J. Penkett, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew A. Brown, Emma Clement, John Davis, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Amy Frary, Rachel Linger, Jennifer M. Martin, Sofia Papadia, Karola Rehnström, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K. Bariana, Paula Bolton‐Maggs, Elizabeth Chalmers, Janine Collins, Peter Collins, Wendy N. Erber, Tamara Everington, Rémi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Johanna Gebhart, Keith Gomez, Daniel Greene, Andreas Greinacher, Paolo Gresele, Daniel Hart, Johan W. M. Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M. Kelly, Michele P. Lambert, Claire Lentaigne, Ri Liesner, Μichael Μakris, Sarah Mangles, Mary Mathias, Carolyn M. Millar, Andrew Mumford, Paquita Nurden, Jeanette Payne, John Pasi, Kathelijne Peerlinck, Shoshana Revel‐Vilk, Michael Richards

    出版 2018
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