検索結果 - Catherine Fallet Bianco
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Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A 著者: Catherine Fallet‐Bianco, Laurence Lœuillet, Karine Poirier, Philippe Loget, Françoise Chapon, Laurent Pasquier, Yoann Saillour, Chérif Beldjord, Jamel Chelly, Fiona Francis
出版事項 2008Artigo -
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Loss of VGLUT1 and VGLUT2 in the prefrontal cortex is correlated with cognitive decline in Alzheimer disease 著者: Alireza Kashani, Eve M. Lepicard, Odile Poirel, Catherine Videau, Jean Philippe David, Catherine Fallet‐Bianco, Axelle Simon, André Delacourte, Bruno Giros, Jacques Epelbaum, Catalina Betancur, Salah El Mestikawy
出版事項 2007Artigo -
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The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 著者: Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie, Karine Lascelles, Isabelle Souville, Chérif Beldjord, Jamel Chelly
出版事項 2014Artigo -
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Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects 著者: Karine Poirier, Yoann Saillour, Nadia Bahi‐Buisson, Xavier H. Jaglin, Catherine Fallet‐Bianco, Rima Nabbout, Laëtitia Castelnau-Ptakhine, Agathe Roubertie, Tania Attié‐Bitach, Isabelle Desguerre, David Geneviève, Christine Barnérias, Boris Keren, Nicolas Lebrun, Nathalie Boddaert, Férechté Encha‐Razavi, Jamel Chelly
出版事項 2010Artigo -
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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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Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome) 著者: Esther Meyer, Christopher J. Ricketts, Neil V. Morgan, Mark R. Morris, Shanaz Pasha, Louise Tee, Fatimah Rahman, Anne Bazin, Bettina Bessières, Pierre Déchelotte, Mohamed Taher Yacoubi, Mudher Al‐Adnani, Tamás Marton, David Tannahill, Richard C. Trembath, Catherine Fallet‐Bianco, P. Cox, Denise Williams, Eamonn R. Maher
出版事項 2010Artigo -
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 著者: Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, Ferechté Razavi, Fabien Guimiot, Patrícia Dias, Laurence Lœuillet, Karine Lascelles, Chérif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revençu, Marie‐Claude Addor, Benoît Lhermitte, Marie Gonzalès, Jelena Martinovich, Bettina Bessières, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi‐Buisson
出版事項 2014Artigo -
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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly 著者: Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet‐Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clémenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bôle‐Feysot, Jean‐Pierre Bernard, Laurence Lœuillet, Marie Gonzalès, Koryna Socha, Bernard Grandchamp, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Seta
出版事項 2012Artigo -
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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria 著者: Xavier H. Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Nadia Bahi‐Buisson, Catherine Fallet‐Bianco, Françoise Phan-Dinh-Tuy, Xiang‐Peng Kong, Pascale Bomont, Laëtitia Castelnau-Ptakhine, Sylvie Odent, Philippe Loget, Manoëlle Kossorotoff, I. Snoeck, Ghislaine Plessis, Philippe Parent, Chérif Beldjord, Carlos Cardoso, Alfonso Represa, Jonathan Flint, David A. Keays, Nicholas J. Cowan, Jamel Chelly
出版事項 2009Artigo -
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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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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis 著者: Sarah Boissel, Catherine Fallet‐Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie‐Ange Delrue, Dorothée Dal Soglio, Luc L. Oligny, Natalie Patey, Elisabeth Flori, M. Cloutier, David A. Dyment, Philippe M. Campeau, Aspasia Karalis, Sonia Nizard, William D. Fraser, François Audibert, Emmanuelle Lemyre, Guy A. Rouleau, Fadi F. Hamdan, Zoha Kibar, Jacques L. Michaud
出版事項 2017Artigo -
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Molecular heterogeneity in fetal forms of type II lissencephaly 著者: C Bouchet, M. Gonzalés, Sandrine Vuillaumier‐Barrot, Louise Devisme, C. Lebizec, Elisabeth Alanio, Anne Bazin, B. Bessières-Grattagliano, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Dominique Carles, Sophie Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, B. Gasser, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, F. Menez, Sophie Patrier, Fanny Pelluard-Nehmé, Marie-José Perez, C. Rouleau-Dubois, Stéphane Triau, A. Laquérrière, Férechté Encha‐Razavi, Nathalie Seta
出版事項 2007Artigo -
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 著者: Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne‐Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean‐Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet‐Bianco, Jean‐François Soucy, Anne‐Marie Laberge, Catalina Maftei, Kym M. Boycott, Bernard Brais, Renée‐Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit A. Shalev, Jacques L. Michaud
出版事項 2015Artigo -
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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies 著者: Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi
出版事項 2012Artigo
関連主題
Biology
Genetics
Medicine
Gene
Neuroscience
Pathology
Lissencephaly
Phenotype
Epilepsy
Anatomy
Polymicrogyria
Pregnancy
Fetus
Internal medicine
Mutation
Disease
Pachygyria
Psychology
Cell biology
Cerebellum
Corpus callosum
Genetic heterogeneity
Magnetic resonance imaging
Missense mutation
Radiology
Agenesis
Bioinformatics
Central nervous system
Cerebellar hypoplasia (non-human)
Ciliopathies