Hakutulokset - Pascale Saugier‐Veber

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  1. 1
    Refined Characterization of the Expression and Stability of the SMN Gene Products

    Refined Characterization of the Expression and Stability of the SMN Gene Products Tekijä Jérémie Vitte, Coralie Fassier, Francesco Danilo Tiziano, Cécile Dalard, Sabrina Soave, Natacha Roblot, Christine Brahe, Pascale Saugier‐Veber, Jean‐Paul Bonnefont, Judith Melki

    Julkaistu 2007
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  2. 2
    A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

    A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy Tekijä Myriam Vézain, Pascale Saugier‐Veber, Elisa Goina, Renaud Touraine, V. Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martins

    Julkaistu 2009
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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 Tekijä 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

    Julkaistu 2012
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  4. 4
    Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism

    Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism Tekijä Cécile Dumanchin, A. Camuzat, Dominique Campion, Patrice Verpillat, Didier Hannequin, Bruno Dubois, Pascale Saugier‐Veber, Cosette Martin, Christiane Penet, F. Charbonnier, Y. Agid, Thierry Frébourg, Alexis Brice

    Julkaistu 1998
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  5. 5
    Genetic Compensation in a Human Genomic Disorder

    Genetic Compensation in a Human Genomic Disorder Tekijä Nadège Calmels, Pascale Saugier‐Veber, Françoise Girard‐Lemaire, Gabrielle Rudolf, Bérénice Doray, Éric Guérin, Pierre Kuhn, Mathilde Arrivé, Catherine Gilch, Evelyne Schmitt, Séverine Fehrenbach, Albert Schnebelen, Thierry Frébourg, Elisabeth Flori

    Julkaistu 2009
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  6. 6
    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene Tekijä 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

    Julkaistu 2017
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  7. 7
    Murine <i> <scp>MPDZ</scp> </i> ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

    Murine <i> <scp>MPDZ</scp> </i> ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus Tekijä Junning Yang, Claire Simonneau, Robert Kilker, Laura Oakley, Matthew Byrne, Zuzana Nichtová, Ioana Stefanescu, Fnu Pardeep‐Kumar, Sushil Tripathi, Eric Londin, Pascale Saugier‐Veber, Belinda Willard, Mathew L. Thakur, Stephen Pickup, Hiroshi Ishikawa, Horst Schroten, Richard J. Smeyne, Arie Horowitz

    Julkaistu 2018
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  8. 8
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... Tekijä Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    Julkaistu 2009
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  9. 9
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome Tekijä Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    Julkaistu 2007
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  10. 10
    Penetrance, variable expressivity and monogenic neurodevelopmental disorders

    Penetrance, variable expressivity and monogenic neurodevelopmental disorders Tekijä Servane de Masfrand, Benjamin Cogné, Mathilde Nizon, Wallid Deb, Alice Goldenberg, François Lecoquierre, Gaël Nicolas, Marie Bournez, Antonio Vitobello, Frédéric Tran Mau‐Them, Gwenaël Le Guyader, Frédéric Bilan, Peter Bauer, Christiane Zweier, Juliette Piard, Laurent Pasquier, Stéphane Bézieau, Bénédicte Gérard, Laurence Faivre, Pascale Saugier‐Veber, Amélie Piton, Bertrand Isidor

    Julkaistu 2024
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  11. 11
    Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

    Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation Tekijä Audrey Guilmatre, Christèle Dubourg, A.L. Mosca, Solenn Legallic, Alice Goldenberg, Valérie Drouin‐Garraud, Valérie Layet, Antoine Rosier, Sylvain Briault, Frédérique Bonnet‐Brilhault, Frédéric Laumonnier, Sylvie Odent, G. Le Vacon, Géraldine Joly‐Helas, Véronique David, Claude Bendavid, Jean‐Michel Pinoit, Céline Henry, Caterina Impallomeni, Eva Germanò, Gaetano Tortorella, Gabriella Di Rosa, Catherine Barthélémy, Christian Andrés, Laurence Faivre, Thierry Frébourg, Pascale Saugier‐Veber, Dominique Campion

    Julkaistu 2009
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  12. 12
    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

    A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability Tekijä Anne‐Laure Mosca‐Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi‐Pocachard, Antonio Falace, Laurence Duplomb, Julien Thévenon, Yannis Duffourd, Judith St‐Onge, Pascal Chambon, Jean‐Baptiste Rivière, Christel Thauvin‐Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clémence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Caldérari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean‐Michel Pinoit, Antoine Rosier, Alice Masurel‐Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier‐Veber, Dominique Campion, Laurence Faivre, Thomas Bourgeron

    Julkaistu 2015
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  13. 13
    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications

    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications Tekijä Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury‐Ecob, Sian Ellard, Hana Lango Allen, Emily Yu, Ramil R. Noche, Suzi Walker, Stephen W. Scherer, Sonal Mahida, Christopher M. Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier‐Veber, François Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M. Keppler‐Noreuil, Lucy Drayson, Kristin Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frédéric Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay B. Henderson, Lauren Brady, Mark A. Tarnopolsky, Matthew N. Bainbridge, Jennifer Friedman, Yline Capri, Larissa Sampaio de Athayde, Fernando Kok, Juliana Gurgel‐Giannetti, Luiza Ramos, Susan Blaser, James J. Dowling, Rosanna Weksberg

    Julkaistu 2022
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  14. 14
    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features Tekijä Christel Thauvin‐Robinet, Aurore Garde, M Favier, Julian Delanne, Caroline Racine, Thierry Rousseau, Sophie Nambot, Ange‐Line Bruel, Sébastien Moutton, Chloé Quēlin, Cindy Colson, Anne‐Claire Bréhin, Anne-Marie Guerrot, Caroline Rooryck, Audrey Putoux, Patricia Blanchet, Sylvie Odent, Élise Schaefer, Odile Boute, Alice Goldenberg, Agnès Guichet, Carine Abel, Godeliève Morel, Mélanie Fradin, Bertrand Isidor, Marie Vincent, Christine Francannet, Gabriella Vera, Florence Petit, Mathilde Nizon, Constance Wells, Médéric Jeanne, Caroline Deiller, Alban Ziegler, Manon Godin, Pascale Saugier‐Veber, Kévin Cassinari, Pierre Blanc, E. Simon, Christine Binquet, Yannis Duffourd, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran Mau‐Them, Nicolas Bourgon

    Julkaistu 2025
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  15. 15
    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects Tekijä Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki

    Julkaistu 2013
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  16. 16
    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

    Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Tekijä David A. Koolen, Andrew J. Sharp, Jane A. Hurst, Helen V. Firth, Samantha J.L. Knight, Alice Goldenberg, Pascale Saugier‐Veber, Rolph Pfundt, Lisenka E.L.M. Vissers, Anne Destrèe, Bernard Grisart, Liesbeth Rooms, Nathalie Van der Aa, Michael Field, Anna Hackett, Katrina M. Bell, M.J.M. Nowaczyk, Grazia M.S. Mancini, Pino J. Poddighe, Charles E. Schwartz, Elena Rossi, Manuela De Gregori, Lucinda Antonacci-Fulton, Michael D. McLellan, J M Garrett, Maddy Wiechert, Tracie L. Miner, Seth D. Crosby, Roberto Ciccone, Lionel Willatt, Anita Rauch, Martin Zenker, Swaroop Aradhya, Melanie A. Manning, Tim M. Strom, Janine Wagenstaller, Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Carla Rosenberg, Sue Price, Helen Stewart, Charles Shaw‐Smith, Han G. Brunner, Andrew O.M. Wilkie, Joris A. Veltman, Orsetta Zuffardi, Evan E. Eichler, Bert B.A. de Vries

    Julkaistu 2008
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  17. 17
    Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Tekijä Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier‐Veber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M.A.M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković

    Julkaistu 2020
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  18. 18
    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Tekijä Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    Julkaistu 2023
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