Zoekresultaten - Anne Claude Tabet

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  1. 1
    Operative list of genes associated with autism and neurodevelopmental disorders based on database review

    Operative list of genes associated with autism and neurodevelopmental disorders based on database review door Claire S. Leblond, Thuy-Linh Le, Simon Malesys, Freddy Cliquet, Anne‐Claude Tabet, Richard Delorme, Thomas Rolland, Thomas Bourgeron

    Gepubliceerd in 2021
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  2. 2
    Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

    Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother door Anne‐Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloès, Brigitte Benzacken, Catalina Betancur

    Gepubliceerd in 2012
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  3. 3
    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

    Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype door Sylvie Tordjman, George M. Anderson, Michel Botbol, Annick Toutain, Pierre Sarda, Michèle Carlier, Pascale Saugier‐Veber, Clarisse Baumann, David Cohen, Céline Lagneaux, Anne‐Claude Tabet, Alain Verloès

    Gepubliceerd in 2012
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  4. 4
    Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

    Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome door Aline Vitrac, Claire S. Leblond, Thomas Rolland, Freddy Cliquet, Alexandre Mathieu, Anna Maruani, Richard Delorme, Michael P. Schön, Andreas M. Grabrucker, Conny M.A. van Ravenswaaij‐Arts, Katy Phelan, Anne‐Claude Tabet, Thomas Bourgeron

    Gepubliceerd in 2023
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  5. 5
    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus door Matias Wagner, Jonathan Lévy, Sabine Jung‐Klawitter, Somayeh Bakhtiari, Fabíola Paoli Monteiro, Reza Maroofian, Tatjana Bierhals, Maja Hempel, Monique Elmaleh, João Paulo Kitajima, Chong Ae Kim, Júlia Salomão, David J. Amor, Monica S. Cooper, Laurence Perrin, Eva Pipiras, Axel Neu, Mohammad Doosti, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Henry Houlden, Sheng Chih Jin, Yue C., Lance H. Rodan, Hanka Venselaar, Michael C. Kruer, Fernando Kok, Georg F. Hoffmann, Tim M. Strom, Saskia B. Wortmann, Anne-Claude Tabet, Thomas Opladen

    Gepubliceerd in 2020
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  6. 6
    Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

    Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans door Thuy-Linh Le, Louise Galmiche, J Levý, Pim Suwannarat, Debby M.E.I. Hellebrekers, Khomgrit Morarach, Franck Boismoreau, Tom E. J. Theunissen, Mathilde Lefebvre, Anna Pelet, Jéléna Martinovic, A. Gélot, Fabien Guimiot, Amanda Calleroz, Cyril Gitiaux, Marie Hully, Olivier Goulet, Christophe Chardot, Séverine Drunat, Yline Capri, Christine Bôle‐Feysot, Patrick Nitschké, Sandra Whalen, L. Mouthon, Holly E. Babcock, Robert M.W. Hofstra, Irenaeus F.M. de Coo, Anne‐Claude Tabet, Thierry Jo Molina, Boris Keren, Alice Brooks, Hubert J.M. Smeets, Ulrika Marklund, Christopher T. Gordon, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand

    Gepubliceerd in 2021
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  7. 7
    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments door Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kévin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Råstam, I. Carina Gillberg, Gudrun Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galán, Delphine Héron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiésa, François Rivier, Dominique Bonneau, Béatrice Regnault, Diana Zélénika, Marc Delépine, Mark Lathrop, Damien Sanlaville, Caroline Schluth–Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeißer, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

    Gepubliceerd in 2014
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  8. 8
    A framework to identify contributing genes in patients with Phelan-McDermid syndrome

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

    Gepubliceerd in 2017
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  9. 9
    Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

    Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) door Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara‐Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clémence Delcour, Constance Beyler, E. Bois, E. Bourrat, E. Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen‐Solal, Sabrina Corrêa da Costa, Claire Dossier, Stéphane Éderhy, Monique Elmaleh, Laurence Iserin, Hélène Lengline, Armelle Poujol‐Robert, Dominique Roulot, Jérôme Viala, F. Albarel, Élise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert‐Buffet, Philippe Chanson, R. Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, M. Grynberg, Karinne Gueniche, Carina Jorgensen, V. Kerlan, Charlotte Lebrun, Christine Lefèvre, F. Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean‐Pierre Siffroi, Anne‐Claude Tabet, Maïthé Tauber, V. Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zénaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean‐Claude Carel, Sophie Christin‐Maître, Juliane Léger

    Gepubliceerd in 2022
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  10. 10
    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

    Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders door Caroline Schluth–Bolard, Flavie Diguet, Nicolas Chatron, Pierre‐Antoine Rollat‐Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie‐Pierre Cordier, Christine Coubes, Bénédicte Demeer, Annabelle Chaussenot, Florence Démurger, Françoise Devillard, Martine Doco‐Fenzy, Céline Dupont, Jean‐Michel Dupont, Sophie Dupuis‐Girod, Laurence Faivre, Brigitte Gilbert‐Dussardier, Anne‐Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly‐Helas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Valérie Malan, Michèle Mathieu‐Dramard, Julie Masson, Alice Masurel‐Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice‐Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel‐Richard, Sylvie Odent, Véronique Paquis‐Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie‐France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean‐Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérôme Toutain, Stéphanie Valence, Alain Verloès, Sandra Whalen, Patrick Edery, Anne‐Claude Tabet, Damien Sanlaville

    Gepubliceerd in 2019
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  11. 11
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features door Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh

    Gepubliceerd in 2018
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