תוצאות חיפוש - Sylvain Briault

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  1. 1
    STING agonist diABZI induces PANoptosis and DNA mediated acute respiratory distress syndrome (ARDS)

    STING agonist diABZI induces PANoptosis and DNA mediated acute respiratory distress syndrome (ARDS) מאת Yasmine Messaoud‐Nacer, Elodie Culerier, Stéphanie Rose, Isabelle Maillet, Nathalie Rouxel, Sylvain Briault, Bernhard Ryffel, Valérie Quesniaux, Dieudonnée Togbe

    יצא לאור 2022
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  2. 2
    Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model

    Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model מאת Danijela Bataveljić, Helena Pivoňková, Vidian de Concini, Betty Hébert, Pascal Ezan, Sylvain Briault, Alexis‐Pierre Bemelmans, Jacques Pichon, Arnaud Menuet, Nathalie Rouach

    יצא לאור 2024
    קבל טקסט מלא
    Artigo
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  3. 3
    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 מאת 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

    יצא לאור 2002
    קבל טקסט מלא
    Artigo
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  4. 4
    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 מאת 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

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    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 מאת 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

    יצא לאור 2009
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    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 מאת 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

    יצא לאור 2004
    קבל טקסט מלא
    Artigo
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  7. 7
    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

    The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene מאת C E Schwartz, Patrick Tarpey, Herbert A. Lubs, Alain Verloès, Melanie May, Hiba Risheg, Michael J. Friez, PA Futreal, Sarah Edkins, J. Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, R J Simensen, Sumy Joseph, Julie R. Jones, Jozef Gécz, Michael R. Stratton, F. Lucy Raymond, R.E. Stevenson

    יצא לאור 2007
    קבל טקסט מלא
    Carta
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  8. 8
    The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

    The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients מאת Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie‐José Gregoire, Bruno Leheup, Laurence Taine, Didier Lacombe, Marie‐Ange Delrue, Annick Toutain, Agathe Paubel, Francine Mugneret, Christel Thauvin‐Robinet, Stéphanie Arpin, Cédric Le Caignec, Philippe Jonveaux, Mylène Béri, Nathalie Leporrier, Jacques Motté, Caroline Fiquet, Olivier Brichet, Monique Mozelle-Nivoix, Pascal Sabouraud, Nathalie Golovkine, Nathalie Bednarek, Dominique Gaillard, Martine Doco‐Fenzy

    יצא לאור 2012
    קבל טקסט מלא
    Artigo
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  9. 9
    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 מאת 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

    יצא לאור 2009
    קבל טקסט מלא
    Revisão
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  10. 10
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment מאת Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    יצא לאור 2023
    קבל טקסט מלא קבל טקסט מלא
    Pré-impressão
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  11. 11
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment מאת Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    יצא לאור 2023
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    Pré-impressão
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  12. 12
    Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

    Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders מאת Kagistia Hana Utami, Axel M. Hillmer, Irène Aksoy, Elaine Guo Yan Chew, Audrey S.M. Teo, Zhenshui Zhang, Charlie W. H. Lee, Pauline J. Chen, Chan Chee Seng, Pramila Ariyaratne, Sigrid Rouam, Lim Seong Soo, Saira Yousoof, Ivan Prokudin, Gregory B. Peters, Felicity Collins, Meredith Wilson, Alyson Kakakios, Georges Haddad, Arnaud Menuet, Olivier Perche, S K Tay, Wing‐Kin Sung, Xiaoan Ruan, Yijun Ruan, Edison T. Liu, Sylvain Briault, Robyn V. Jamieson, Sonia Dávila, Valère Cacheux

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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