Хайлтын үр дүнгүүд - Frédéric Laumonnier

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  1. 1
    Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

    Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate -н Frédéric Laumonnier

    Хэвлэсэн 2005
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    Carta
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  2. 2
    The Role of Neuronal Complexes in Human X-Linked Brain Diseases

    The Role of Neuronal Complexes in Human X-Linked Brain Diseases -н Frédéric Laumonnier, Peter C. Cuthbert, Seth G. N. Grant

    Хэвлэсэн 2007
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    Revisão
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  3. 3
    Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders

    Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders -н Florence Desprez, Dévina C. Ung, Patrick Vourc’h, Médéric Jeanne, Frédéric Laumonnier

    Хэвлэсэн 2023
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    Revisão
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  4. 4
    1H–13C NMR-based urine metabolic profiling in autism spectrum disorders

    1H–13C NMR-based urine metabolic profiling in autism spectrum disorders -н Sylvie Mavel, Lydie Nadal‐Desbarats, Hélène Blasco, Frédérique Bonnet‐Brilhault, Catherine Barthélémy, Fréderic Montigny, Pierre Sarda, Frédéric Laumonnier, Patrick Vourc’h, Christian Andrés, Patrick Emond

    Хэвлэсэн 2013
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    Artigo
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  5. 5
    GC-MS-based urine metabolic profiling of autism spectrum disorders

    GC-MS-based urine metabolic profiling of autism spectrum disorders -н Patrick Emond, Sylvie Mavel, Nacima Aïdoud, Lydie Nadal‐Desbarats, Fréderic Montigny, Frédérique Bonnet‐Brilhault, Catherine Barthélémy, Marc Merten, Pierre Sarda, Frédéric Laumonnier, Patrick Vourc’h, Hélène Blasco, Christian Andrés

    Хэвлэсэн 2013
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    Artigo
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  6. 6
    Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

    Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency -н Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel, Paul Q. Thomas, James Lespinasse, Martine Raynaud, Christine Paringaux, Hans van Bokhoven, Vera M. Kalscheuer, Jean‐Pierre Fryns, Jamel Chelly, Claude Moraine, Sylvain Briault

    Хэвлэсэн 2002
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    Artigo
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  7. 7
    Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule

    Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule -н Betty Hébert, Susanna Pietropaolo, Sandra Même, Béatrice Laudier, Anthony Laugeray, Nicolas Doisne, Angélique Quartier, Sandrine Lefeuvre, Laurence Got, Dominique Cahard, Frédéric Laumonnier, Wim E. Crusio, Jacques Pichon, Arnaud Menuet, Olivier Perche, Sylvain Briault

    Хэвлэсэн 2014
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    Artigo
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  8. 8
    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

    Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism -н Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud

    Хэвлэсэн 2009
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    Artigo
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  9. 9
    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment -н Angélique Quartier, Jérémie Courraud, Thuong Ha, George McGillivray, Bertrand Isidor, Katherine Rose, Nathalie Drouot, Marie‐Armel Savidan, Claire Feger, Hélène Jagline, Jamel Chelly, Marie Shaw, Frédéric Laumonnier, Jozef Gécz, Jean‐Louis Mandel, Amélie Piton

    Хэвлэсэн 2019
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    Artigo
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  10. 10
    X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

    X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family -н Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie‐Pierre Moizard, Martine Raynaud, Nathalie Ronce, Éric Lemonnier, Patrick Calvas, Béatrice Laudier, Jamel Chelly, Jean‐Pierre Fryns, Hans‐Hilger Ropers, Ben C.J. Hamel, Christian Andrés, Catherine Barthélémy, Claude Moraine, Sylvain Briault

    Хэвлэсэн 2004
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    Artigo
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  11. 11
    Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

    Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability -н Lam Son Nguyen, Lachlan A. Jolly, Cheryl Shoubridge, Wai-Kin Chan, Lulu Huang, Frédéric Laumonnier, Martine Raynaud, Anna Hackett, Michael Field, Jayson Rodriguez, Anand Srivastava, Y Lee, R Long, Anjené Addington, Judith L. Rapoport, Suganthi Suren, Christopher N Hahn, Jennifer R. Gamble, Miles Wilkinson, Mark Corbett, Jozef Gécz

    Хэвлэсэн 2011
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    Artigo
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  12. 12
    Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

    Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse -н Dévina C. Ung, Giovanni Iacono, Hamid Méziane, Edward Blanchard, M-A Papon, Martijn Selten, J-R van Rhijn, Rodrick Montjean, J. Rucci, Stéphane Martin, Andrew Fleet, Marie‐Christine Birling, Sylviane Marouillat, Ronald Roepman, Mohammed Selloum, Aline Lux, Rose‐Anne Thépault, Paul A. Hamel, Kirti Mittal, John B. Vincent, Olivier Dorseuil, H.G. Stunnenberg, Pierre Billuart, Nael Nadif Kasri, Yann Hérault, Frédéric Laumonnier

    Хэвлэсэн 2017
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    Artigo
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  13. 13
    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 -н 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

    Хэвлэсэн 2009
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    Revisão
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  14. 14
    Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

    Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation -н Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Järvelä, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bokhoven, Hans‐Hilger Ropers, Frédéric Laumonnier, Enzo Ranieri, Charles E. Schwartz, Fatima Abidi, Patrick Tarpey, P. Andrew Futreal, Annabel Whibley, F. Lucy Raymond, Michael R. Stratton, Jean‐Pierre Fryns, Rodney J. Scott, Maarit Peippo, Marjatta Sipponen, M. W. Partington, David Mowat, Michael Field, Anna Hackett, Peter Marynen, Gillian Turner, Jozef Gécz

    Хэвлэсэн 2008
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    Artigo
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  15. 15
    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

    Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities -н Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie‐Laure Vuillaume, Sophie Blesson, Rose‐Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie A. Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hančárová, Šárka Bendová, Zdeněk Sedláček, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina England, Séverine Audebert‐Bellanger, Dominique Bonneau, Estelle Colin, Anne‐Sophie Denommé‐Pichon, Brigitte Gilbert‐Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

    Хэвлэсэн 2021
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    Artigo
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  16. 16
    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity -н Hiromi Hirata, Indrajit Nanda, Anne van Riesen, G. McMichael, Hao Hu, M Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair H. MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A. Haas, Wolfram Kreß, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G. Shaffer, Jill A. Rosenfeld, Nancy Kramer, Rena E. Falk, Dima El‐Khechen, Luis Escobar, Raoul C. M. Hennekam, Peter Wieacker, Christoph Hübner, Hans‐Hilger Ropers, Jozef Gécz, Markus Schuelke, Frédéric Laumonnier, Vera M. Kalscheuer

    Хэвлэсэн 2013
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    Artigo
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  17. 17
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction -н Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    Хэвлэсэн 2020
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    Artigo
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  18. 18
    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 -н 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

    Хэвлэсэн 2020
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    Artigo
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  19. 19
    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

    PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production -н Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka‐Turski, Tianyun Wang, Tzung‐Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M. W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley C. Adès, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie‐José H. van den Boogaard, Jennifer Wambach, D.J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C. Towne, Kristine Bachman, Andrea Seeley, Anita Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hákon Hákonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René G. Feichtinger, Johannes A. Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François V. Bolduc, Elke Krüger, Stéphane Bézieau

    Хэвлэсэн 2023
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    Artigo
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  20. 20
    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes -н Hao Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen, Suzanna G.M. Frints, Frédéric Laumonnier, Tomasz Żemojtel, Michael I. Love, Hugues Richard, A-K Emde, Melanie Bienek, Corinna Jensen, M Hambrock, Utz Fischer, Claudia Langnick, Mirjam Feldkamp, W.M. Wissink-Lindhout, Nicolas Lebrun, L. Castelnau, J. Rucci, Rodrick Montjean, Olivier Dorseuil, Pierre Billuart, Till Stuhlmann, M Shaw, Mark Corbett, Alison Gardner, Saffron A.G. Willis‐Owen, Chuan Tan, Kathryn Friend, Stefanie Belet, Kees E. P. van Roozendaal, M Jimenez-Pocquet, M.‐P. Moizard, Nathalie Ronce, Ren Sun, Sean O’Keeffe, R Chenna, Alena van Bömmel, Jonathan Göke, Anna Hackett, Michael Field, Louise Christie, Jackie Boyle, Eric Haan, John W. Nelson, Gillian Turner, Gareth Baynam, Gabriele Gillessen‐Kaesbach, Ulrich Müller, Daniela Steinberger, Bartłomiej Budny, Magdalena Badura‐Stronka, Anna Latos‐Bieleńska, Lilian Bomme Ousager, Peter Wieacker, Germán Rodríguez Criado, M.-L. Bondeson, Göran Annerén, Andreas Dufke, Monika Cohen, Lionel Van Maldergem, C. Vincent‐Delorme, Bernard Échenne, Brigitte Simon‐Bouy, Tjitske Kleefstra, Marjolein H. Willemsen, J-P. Fryns, Koenraad Devriendt, Reinhard Ullmann, Martin Vingron, Klaus Wrogemann, Thomas F. Wienker, Andreas Tzschach, Hans van Bokhoven, Jozef Gécz, Thomas J. Jentsch, W. Chen, H‐H Ropers, Vera M. Kalscheuer

    Хэвлэсэн 2015
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    Artigo
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