検索結果 - Marie‐Laure Moutard
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STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients 著者: Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron
出版事項 2011Artigo -
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Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia 著者: Marianne Besnard, Dominique Eyrolle‐Guignot, Prisca Guillemette-Artur, Stéphane Lastère, Frédérique Bost‐Bezeaud, Ludivine Marcelis, Véronique Abadie, Cathérine Garel, Marie‐Laure Moutard, Jean‐Marie Jouannic, Flore Rozenberg, Isabelle Leparc-Goffart, Henri‐Pierre Mallet
出版事項 2016Artigo -
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Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis 著者: F. D’Antonio, G. Pagani, Alessandra Familiari, Asma Khalil, Tally-Lerman Sagies, G. Malinger, Z. Leibovitz, Cathérine Garel, Marie Laure Moutard, G. Pilu, Amar Bhidé, Ganesh Acharya, Martina Leombroni, Lamberto Manzoli, Aris T. Papageorghiou, Federico Prefumo
出版事項 2016Revisão -
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Spectrum of epilepsy in terminal 1p36 deletion syndrome 著者: Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia
出版事項 2007Artigo -
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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex 著者: Nadia Bahi‐Buisson, Karine Poirier, Nathalie Boddaert, Catherine Fallet‐Bianco, Nicola Specchio, Enrico Bertini, Ahmet Okay Çağlayan, Karine Lascelles, Caroline Elie, Jérôme Rambaud, Michel Baulac, Isabelle An, Patrícia Dias, Vincent des Portes, Marie Laure Moutard, Christine Soufflet, Monique El Maleh, Chérif Beldjord, Laurent Villard, Jamel Chelly
出版事項 2010Artigo -
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New human-specific brain landmark: The depth asymmetry of superior temporal sulcus 著者: F. Leroy, Qing Cai, Stéphanie L. Bogart, Jessica Dubois, Olivier Coulon, Karla Monzalvo, Clara Fischer, Hervé Glasel, Lise Van der Haegen, A. Bénézit, Ching‐Po Lin, David N. Kennedy, Aya Ihara, Lucie Hertz‐Pannier, Marie-Laure Moutard, Cyril Poupon, Marc Brysbaert, Neil Roberts, William D. Hopkins, Jean‐François Mangin, Ghislaine Dehaene‐Lambertz
出版事項 2015Artigo -
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LIS1-Related Isolated Lissencephaly 著者: Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson
出版事項 2009Artigo -
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Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities 著者: 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
出版事項 2012Artigo -
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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) 著者: Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly
出版事項 2007Artigo -
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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... 著者: Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen
出版事項 2018Artigo -
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Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation 著者: Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Luca Borradori, E. Bourrat, Odile Boute, Nenad Bukvić, A.‐C. Bursztejn, C. Chiavérini, Bruno Delobel, Marine Fournet, Jehanne Martel, Alice Goldenberg, S. Hadj‐Rabia, A. Mahé, A. Maruani, J. Mazereeuw‐Hautier, Cyril Mignot, Fanny Morice‐Picard, Marie‐Laure Moutard, Florence Petit, Justine Pasteur, Alice Phan, Sandra Whalen, Marjolaine Willems, Christophe Philippe, P. Vabres
出版事項 2019Carta -
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<i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome 著者: Ashley P.L. Marsh, Timothy J. Edwards, Charles A. Galea, Helen Cooper, Elizabeth C. Engle, Saumya Shekhar Jamuar, Aurélie Méneret, Marie‐Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy A. Rouleau, Emmanuel Roze, Megan Spencer‐Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Héron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart
出版事項 2017Revisão -
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients 著者: Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay M. Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid E. Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramírez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie‐Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, J. Helen Cross, Fiorella Gurrieri, Francesco Danilo Tiziano, Soňa Nevšímalová, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad A. Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou
出版事項 2015Artigo -
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Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation 著者: Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron
出版事項 2020Artigo
関連主題
Biology
Medicine
Genetics
Gene
Phenotype
Corpus callosum
Mutation
Psychiatry
Epilepsy
Internal medicine
Pediatrics
Anatomy
Neuroscience
Pathology
Agenesis of the corpus callosum
Fetus
Microcephaly
Pregnancy
Abnormality
Agenesis
Anesthesia
Cerebellum
Encephalopathy
Hypoplasia
Intellectual disability
Lissencephaly
Magnetic resonance imaging
Missense mutation
Prenatal diagnosis
Radiology