نتائج البحث - Annie Laquerrière
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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis حسب Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki
منشور في 2015Artigo -
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PLGF, a placental marker of fetal brain defects after in utero alcohol exposure حسب Matthieu Lecuyer, Annie Laquerrière, Soumeya Bekri, Céline Lesueur, Yasmina Ramdani, Sylvie Jégou, Arnaud Uguen, Pascale Marcorelles, Stéphane Marret, Bruno J. Gonzalez
منشور في 2017Artigo -
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Autophagosome maturation is impaired in Fabry disease حسب Marc Chévrier, Noureddine Brakch, Céline Lesueur, Damien Genty, Yasmina Ramdani, Solange Moll, Mojgan Djavaheri‐Mergny, Carole Brasse‐Lagnel, Annie Laquerrière, Frédéric Barbey, Soumeya Bekri
منشور في 2010Artigo -
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Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain حسب Sylvie Jégou, Faiza El Ghazi, Pamela Kwetieu de Lendeu, Stéphane Marret, Vincent Laudenbach, Arnaud Uguen, Pascale Marcorelles, Vincent Roy, Annie Laquerrière, Bruno J. Gonzalez
منشور في 2012Artigo -
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Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases حسب Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière
منشور في 2008Artigo -
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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene حسب Pascale Saugier‐Veber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
منشور في 2017Artigo -
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Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma حسب Maxime Fontanilles, Florent Marguet, Ludivine Beaussire, Nicolas Magné, Louis‐Ferdinand Pépin, Cristina Alexandru, Isabelle Tennevet, C. Hanzen, Olivier Langlois, Fabrice Jardin, Annie Laquerrière, Nasrin Sarafan‐Vasseur, Frédéric Di Fiore, Florian Clatot
منشور في 2020Artigo -
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Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease حسب David M. A. Mann, Yvonne S. Davidson, Andrew Robinson, N.P. Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S. Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, V. P. Prasher, Takeshi Iwatsubo, André Strydom
منشور في 2018Artigo -
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Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis حسب Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki
منشور في 2016Artigo -
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Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma حسب Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre‐Julien Viailly, Sydney Dubois, Philìppe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Leprêtre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin
منشور في 2017Artigo -
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Amyloid precursor protein controls cholesterol turnover needed for neuronal activity حسب Nathalie Pierrot, Donatienne Tyteca, Ludovic D’Auria, Ilse Dewachter, Philippe Gailly, Aurélie Hendrickx, Bernadette Tasiaux, Laetitia El Haylani, Nathalie Muls, Francisca N’Kuli, Annie Laquerrière, Jean‐Baptiste Demoulin, Dominique Campion, Jean‐Pierre Brion, Pierre J. Courtoy, Pascal Kienlen‐Campard, Jean‐Noël Octave
منشور في 2013Artigo -
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Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors حسب Arnault Tauziède‐Espariat, Damien Bresson, Marc Polivka, S. Bouazza, François Labrousse, Eleonora Aronica, Jean‐Luc Prétet, Fabrice Projetti, Philippe Herman, Henri Salle, Franck Monnien, Séverine Valmary‐Degano, Annie Laquerrière, Marc Pocard, L. Chaigneau, Nicolás Isambert, Marie‐Hélène Aubriot‐Lorton, L. Feuvret, Bernard George, Sébastien Froelich, Homa Adle‐Biassette
منشور في 2016Artigo -
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly حسب 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
منشور في 2014Artigo -
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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly حسب 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
منشور في 2012Artigo -
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Progranulin null mutations in both sporadic and familial frontotemporal dementia حسب Isabelle Le Ber, Julie van der Zee, Didier Hannequin, Ilse Gijselinck, Dominique Campion, Michèle Puel, Annie Laquerrière, Tim De Pooter, Agnès Camuzat, Marleen Van den Broeck, Bruno Dubois, François Sellal, Lucette Lacomblez, Martine Vercelletto, Catherine Thomas-Antérion, Bernard‐François Michel, Véronique Golfier, Mira Didic, François Salachas, Charles Duyckaerts, Marc Cruts, Patrice Verpillat, Christine Van Broeckhoven, Alexis Brice
منشور في 2007Artigo -
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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease حسب Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer, Stefan H. Lelieveld, Stéphane Rousseau, Anne‐Claire Richard, Manon S. Oud, Florent Marguet, Annie Laquerrière, Christopher M. Morris, Johannes Attems, Colin Smith, Olaf Ansorge, Safa Al Sarraj, Thierry Frébourg, Dominique Campion, Didier Hannequin, David Wallon, Christian Gilissen, Patrick F. Chinnery, Joris A. Veltman, Alexander Hoischen
منشور في 2018Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Genetics
Gene
Pathology
Internal medicine
Neuroscience
Disease
Mutation
Cell biology
Phenotype
Anatomy
Cancer research
Fetus
Pregnancy
Arthrogryposis
Biochemistry
Cancer
Endocrinology
Epilepsy
Exome sequencing
Hypoplasia
Lissencephaly
Oncology
Agenesis of the corpus callosum
Alzheimer's disease
Central nervous system
Corpus callosum
Frameshift mutation
Pachygyria