Hakutulokset - Marc Delépine

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  1. 1
    AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

    AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) Tekijä Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delépine, Diana Zélénika, Mark Lathrop, Nicolas Lévy, David H. Ledbetter, William B. Dobyns, Laurent Villard

    Julkaistu 2013
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  2. 2
    A detailed analysis of second and third-generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers

    A detailed analysis of second and third-generation sequencing approaches for accurate length determination of short tandem repeats and homopolymers Tekijä Sophie I. Jeanjean, Yimin Shen, Lise M. Hardy, Antoine Daunay, Marc Delépine, Zuzana Gerber, A. Alberdi, Emmanuel Tubacher, Jean‐François Deleuze, Alexandre How‐Kit

    Julkaistu 2025
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  3. 3
    Deep Sequencing of the Trypanosoma cruzi GP63 Surface Proteases Reveals Diversity and Diversifying Selection among Chronic and Congenital Chagas Disease Patients

    Deep Sequencing of the Trypanosoma cruzi GP63 Surface Proteases Reveals Diversity and Diversifying Selection among Chronic and Congenital Chagas Disease Patients Tekijä Martin Llewellyn, Louisa A. Messenger, Alejandro O. Luquetti, Lineth García, Faustino Torrico, Suelene B. N. Tavares, Bachar Cheaib, Nicolas Derôme, Marc Délepine, Céline Baulard, Jean‐François Deleuze, Sascha Sauer, Michael A. Miles

    Julkaistu 2015
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  4. 4
    Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10

    Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10 Tekijä Cécile Julier, Marc Delépine, Bernard Keavney, Joseph D. Terwilliger, Sean Davis, Daniel E. Weeks, Thuỳ Anh Bùi, Xavier Jeunemaı̂tre, Gilberto Velho, Philippe Froguel, Peter J. Ratcliffe, Pierre Corvol, Florent Soubrier, G. Mark Lathrop

    Julkaistu 1997
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  5. 5
    Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples

    Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples Tekijä Eric Bonnet, Marie-Laure Moutet, Céline Baulard, Delphine Bacq‐Daian, Florian Sandron, Lilia Mesrob, Bertrand Fin, Marc Delépine, Marie-Ange Palomares, Claire Jubin, Hélène Blanché, Vincent Meyer, Anne Boland, Robert Olaso, Jean‐François Deleuze

    Julkaistu 2018
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  6. 6
    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus Tekijä Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean‐Christophe Roux, Imen Dorboz, Jean-Pierre Desvignes, Catherine Badens, Marc Delépine, Mark Lathrop, Pierre Cau, Nicolas Lévy, Nadine Girard, Pierre Sarda, Odile Boespflug‐Tanguy, Laurent Villard

    Julkaistu 2013
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  7. 7
    Polymorphisms in Type II SH2 Domain–Containing Inositol 5-Phosphatase (<i>INPPL1</i>, SHIP2) Are Associated With Physiological Abnormalities of the Metabolic Syndrome

    Polymorphisms in Type II SH2 Domain–Containing Inositol 5-Phosphatase (<i>INPPL1</i>, SHIP2) Are Associated With Physiological Abnormalities of the Metabolic Syndrome Tekijä Pamela J. Kaisaki, Marc Délepine, Peng Yeong Woon, Liam Sebag‐Montefiore, Steven P. Wilder, Stephan Menzel, Nathalie Vionnet, Evelyne Marion, Jean‐Pierre Riveline, G. Charpentier, Stéphane Schurmans, J Levý, Mark Lathrop, Martin Farrall, Dominique Gauguier

    Julkaistu 2004
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  8. 8
    Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy

    Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy Tekijä Chong Ae Kim, Marc Delépine, Emilie Boutet, Haquima El Mourabit, Soazig Le Lay, Muriel Meier, Mona Nemani, E. Bridel, Claudia C. Leite, Débora Romeo Bertola, Robert K. Semple, Stephen O’Rahilly, Isabelle Dugail, Jacqueline Capeau, Mark Lathrop, Jocelyne Magré

    Julkaistu 2008
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  9. 9
    Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy

    Perilipin Deficiency and Autosomal Dominant Partial Lipodystrophy Tekijä Sheetal Gandotra, Caroline Le Dour, William Bottomley, Pascale Cervera, Philippe Giral, Yves Reznik, G. Charpentier, Martine Auclair, Marc Delépine, Inês Barroso, Robert K. Semple, Mark Lathrop, Olivier Lascols, Jacqueline Capeau, Stephen O’Rahilly, Jocelyne Magré, David B. Savage, Corinne Vigouroux

    Julkaistu 2011
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  10. 10
    Prevalence of Mutations in <i>AGPAT2</i> Among Human Lipodystrophies

    Prevalence of Mutations in <i>AGPAT2</i> Among Human Lipodystrophies Tekijä Jocelyne Magré, Marc Délepine, Lionel Van Maldergem, Jean‐Jacques Robert, J. Antonie Maassen, Muriel Meier, Vanessa R. Panz, Chong Ae Kim, Nadia Tubiana‐Rufi, Paul Czernichow, E Seemanová, Charles Buchanan, Didier Lacombe, Corinne Vigouroux, Olivier Lascols, C. Ronald Kahn, Jacqueline Capeau, Mark Lathrop

    Julkaistu 2003
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  11. 11
    Wolcott-Rallison Syndrome

    Wolcott-Rallison Syndrome Tekijä Valérie Senée, Krishna M. Vattem, Marc Delépine, Lynn A. Rainbow, Céline Haton, Annick Lecoq, Nick J. Shaw, Jean-Jacques Robert, Raoul Rooman, C. Diatloff‐Zito, Jacques L. Michaud, Bassan Bin-Abbas, Doris Taha, B. Zabel, Piergiorgio Franceschini, Ali Kemal Topaloğlu, G.M. Lathrop, Timothy Barrett, Marc Nicolino, Ronald C. Wek, Cécile Julier

    Julkaistu 2004
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  12. 12
    SRPX2 mutations in disorders of language cortex and cognition

    SRPX2 mutations in disorders of language cortex and cognition Tekijä Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E. Scheffer, Annick Massacrier, Mp Valenti, N. Roeckel-Trevisol, Sara Jamali, Christophe Béclin, Caroline Seegmüller, Mn Metz-Lutz, Arnaud Lemainque, Marc Delépine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, D. Depétris, Marie‐Geneviève Mattéi, Elisabeth Flori, Andrée Robaglia‐Schlupp, Nicolas Lévy, Ba Neubauer, Rivka Ravid, Christian Marescaux, Samuel F. Berkovic, Édouard Hirsch, Mark Lathrop, P. Cau, Pierre Szepetowski

    Julkaistu 2006
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  13. 13
    Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

    Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy Tekijä Lionel Van Maldergem, J. Magre, T. E. Khallouf, Tobias Gedde‐Dahl, Marc Delépine, Olav Trygstad, E Seemanová, Terence Stephenson, C. Sophia Albott, F Bonńici, Vanessa R. Panz, José Luís Medina, Paula Bogalho, Fabien Huet, Salvatore Savasta, Alain Verloès, Jean‐Jacques Robert, H. Loret, Marc de Kerdanet, Nadia Tubiana‐Rufi, André Mégarbané, J. A. Maassen, Marta E. Polak, Didier Lacombe, C. Ronald Kahn, Eduardo L. V. Silveira, Francisco Homero D’Abronzo, Florin Grigorescu, Mark Lathrop, J. Capeau, Stephen O’Rahilly

    Julkaistu 2002
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  14. 14
    CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

    CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders Tekijä Oriane Mercati, Guillaume Huguet, Anne Danckaert, Gwenaëlle André-Leroux, A. Maruani, Marco Bellinzoni, Thomas Rolland, Laura Gouder, Alexandre Mathieu, Julien Buratti, Frédérique Amsellem, Max E. Benabou, Julien Van‐Gils, Anita Beggiato, Marina Konyukh, JP Bourgeois, Matthew J. Gazzellone, Ryan K. C. Yuen, Susan Walker, Marc Delépine, Anne Boland, Béatrice Regnault, M. François, T. Van Den Abbeele, Anne-Laure Mosca-Boidron, Laurence Faivre, Yasushi Shimoda, Kazutada Watanabe, Dominique Bonneau, Maria Råstam, Marion Leboyer, Stephen W. Scherer, Christopher Gillberg, Richard Delorme, Isabelle Cloëz-Tayarani, Thomas Bourgeron

    Julkaistu 2016
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  15. 15
    Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations

    Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations Tekijä Jean‐Charles Lambert, Diana Zélénika, Mikko Hiltunen, Vincent Chouraki, Onofre Combarros, María J. Bullido, Gloria Tognoni, Nathalie Fiévet, Anne Boland, Beatrice Arosio, Eliécer Coto, Maria Del Zompo, Ignacio Mateo, Ana Frank, Seppo Helisalmi, Elisa Porcellini, Alberto Pilotto, Paola Forti, Raffaele Ferri, Marc Delépine, Elio Scarpini, Gabriele Siciliano, Vincenzo Solfrizzi, Sandro Sorbi, Gianfranco Spalletta, Giovanni Ravaglia, Fernando Valdivieso, Victoria Álvarez, Paolo Bosco, Michelangelo Mancuso, Francesco Panza, Benedetta Nacmias, Paola Bossù, Paola Piccardi, Giorgio Annoni, Davide Seripa, Daniela Galimberti, Federico Licastro, Mark Lathrop, Hilkka Soininen, Philippe Amouyel

    Julkaistu 2011
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  16. 16
    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis Tekijä Crystel Bonnet, M’hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, M. Parodi, Magali Niasme-Grare, Diana Zélénika, Marc Delépine, Delphine Feldmann, Laurence Jonard, A. Amraoui, Dominique Weil, Bruno Delobel, C. Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Jacqueline Vigneron, B. Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, T. Mom, Didier Lacombe, F Duriez, Valérie Drouin‐Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José‐Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle

    Julkaistu 2011
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  17. 17
    Lung cancer susceptibility locus at 5p15.33

    Lung cancer susceptibility locus at 5p15.33 Tekijä James McKay, Rayjean J. Hung, Valérie Gaborieau, Paolo Boffetta, Amélie Chabrier, Graham Byrnes, Давид Заридзе, Anush Mukeria, Neonilia Szeszenia‐Dabrowska, Jolanta Lissowska, Péter Rudnai, Eleonóra Fabiánová, Dana Mateș, Vladimír Bencko, Lenka Foretová, Vladimí­r Janout, Esther M. John, Frances A. Shepherd, Alexandre Montpetit, Steven A. Narod, Hans E. Krokan, Frank Skorpen, Maiken Bratt Elvestad, Lars J. Vatten, Inger Njølstad, Tomas Axelsson, Chu Chen, Gary E. Goodman, Matt J. Barnett, Melissa M. Loomis, Jan Lubiński, Joanna Matyjasik, Marcin Lener, Dorota Oszutowska–Mazurek, John K. Field, Triantafillos Liloglou, George Xinarianos, Adrian Cassidy, Diana Zélénika, Anne Boland, Marc Delépine, Mario Foglio, Doris Lechner, Fumihiko Matsuda, Hélène Blanché, Marta Gut, Simon Heath, Mark Lathrop, Paul Brennan

    Julkaistu 2008
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  18. 18
    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders Tekijä Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Råstam, Henrik Anckarsäter, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Béatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P. Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David Collier, Patrick Bolton, Andreas G. Chiocchetti, Sabine M. Klauck, Fritz Poustka, Christine M. Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana Filipa Sequeira, Bárbara Oliveira, Astrid M. Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W. Scherer, Diana Zélénika, Marc Delépine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie–Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

    Julkaistu 2012
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  19. 19
    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 Tekijä 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

    Julkaistu 2014
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  20. 20
    A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

    A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25 Tekijä Rayjean J. Hung, James McKay, Valérie Gaborieau, Paolo Boffetta, Mia Hashibe, Давид Заридзе, Anush Mukeria, Neonilia Szeszenia‐Dabrowska, Jolanta Lissowska, Péter Rudnai, Eleonóra Fabiánová, Dana Mateș, Vladimír Bencko, Lenka Foretová, Vladimí­r Janout, Chu Chen, Gary E. Goodman, John K. Field, Triantafillos Liloglou, George Xinarianos, Adrian Cassidy, Esther M. John, Geoffrey Liu, Steven A. Narod, Hans E. Krokan, Frank Skorpen, Maiken Bratt Elvestad, Kristian Hveem, Lars J. Vatten, Jakob Linseisen, Françoise Clavel‐Chapelon, Paolo Vineis, H. Bas Bueno‐de‐Mesquita, Eiliv Lund, Carmen Martı́nez, Sheila Bingham, Torgny Rasmuson, Pierre Hainaut, Elio Ríboli, Wolfgang Ahrens, Simone Benhamou, Παγώνα Λάγιου, Dimitrios Trichopoulos, Ivana Holcátová, Franco Merletti, Kristina Kjærheim, Antonio Agudo, Gary J. Macfarlane, Renato Talamini, Lorenzo Simonato, Ray Lowry, David I. Conway, Ariana Znaor, Claire M. Healy, Diana Zélénika, Anne Boland, Marc Delépine, Mario Foglio, Doris Lechner, Fumihiko Matsuda, Hélène Blanché, Marta Gut, Simon Heath, Mark Lathrop, Paul Brennan

    Julkaistu 2008
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