Bilaketaren emaitzak - Laurent Villard

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  1. 1
    MECP2 mutations in males

    MECP2 mutations in males nork Laurent Villard

    Argitaratua 2007
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  2. 2
    Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)

    Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome) nork Richard J. Gibbons, David J. Picketts, Laurent Villard, Douglas R. Higgs

    Argitaratua 1995
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  3. 3
    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient nork Affef Abidi, Cécile Mignon‐Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard

    Argitaratua 2015
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  4. 4
    GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

    GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice nork Rita El-Khoury, Nicolas Panayotis, Valérie Matagne, Adeline Ghata, Laurent Villard, Jean‐Christophe Roux

    Argitaratua 2014
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  5. 5
    Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

    Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia nork N. Philip, B. Chabrol, Anne-Marie Lossi, Carlos Cardoso, Renzo Guerrini, William B. Dobyns, Charles Raybaud, Laurent Villard

    Argitaratua 2003
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  6. 6
    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability nork Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Éliane Chouery

    Argitaratua 2015
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  7. 7
    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype nork Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix, Bilal El Waly, Anne Moncla, Chantal Missirian, B. Chabrol, Laurent Villard

    Argitaratua 2010
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  8. 8
    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) nork Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delépine, Diana Zélénika, Mark Lathrop, Nicolas Lévy, David H. Ledbetter, William B. Dobyns, Laurent Villard

    Argitaratua 2013
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  9. 9
    Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy

    Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy nork Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, B. Chabrol, Laurent Villard, Anna Fassio

    Argitaratua 2013
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  10. 10
    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype nork Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai‐Mallet, Jean-Luc Jouve, B. Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip

    Argitaratua 2007
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  11. 11
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations nork Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    Argitaratua 2015
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  12. 12
    A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

    A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 nork Laurent Villard, Karine Nguyen, Carlos Cardoso, Christa Lese Martin, Ann M. Weiss, Mara Sifry-Platt, Arthur W. Grix, John M. Graham, Robin M. Winter, Richard J. Leventer, William B. Dobyns

    Argitaratua 2002
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  13. 13
    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations nork Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminśka, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli, Cécile Mignon‐Ravix, Hélène Cuberos, B. Chabrol, Laurent Villard

    Argitaratua 2011
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  14. 14
    Poor Association Between Clinical Characteristics and Seropositivity in Children With Suspected Long <scp>COVID</scp>—A Single‐Centre Study

    Poor Association Between Clinical Characteristics and Seropositivity in Children With Suspected Long <scp>COVID</scp>—A Single‐Centre Study nork Selma Olsson‐Åkefeldt, Joachim Luthander, Lena Anmyr, Laurent Villard, Sigurður Árnason, Mike K. Kemani, E. I. Wallgren, Sara Rostlund, M. Tingborn, M. Pettersson, Eric M. George, Malin Ryd Rinder, Olof Hertting

    Argitaratua 2025
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  15. 15
    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 nork 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

    Argitaratua 2013
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  16. 16
    Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

    Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice nork Jean‐Charles Viemari, Jean‐Christophe Roux, Andrew K. Tryba, Véronique Saywell, H. Burnet, Fernando Peña‐Ortega, Sébastien Zanella, Michelle Bévengut, Magali Barthélémy-Requin, Laura B. K. Herzing, Anne Moncla, Josette Mancini, Jan‐Marino Ramirez, Laurent Villard, Gérard Hilaire

    Argitaratua 2005
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  17. 17
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome nork Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Argitaratua 2008
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  18. 18
    Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

    Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth nork Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer, Marlène Rio, Martine Doco‐Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motté, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng‐Ye Man

    Argitaratua 2013
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  19. 19
    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome nork Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso, Dalila Rondinella, Roberta De Filippis, Nadia Bahi‐Buisson, Juliette Nectoux, R. Rubinsztajn, Thierry Bienvenu, A. Moncla, B. Chabrol, Laurent Villard, Zita Krūmiņa, Judith Armstrong, Ana Roche, M. Pineda, Eva Gak, Francesca Mari, Francesca Ariani, Alessandra Renieri

    Argitaratua 2009
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  20. 20
    GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

    GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex nork Nadia Bahi‐Buisson, Karine Poirier, Nathalie Boddaert, Catherine Fallet‐Bianco, Nicola Specchio, Enrico Bertini, Ahmet Okay Çağlayan, Karine Lascelles, Caroline Elie, Jérôme Rambaud, Michel Baulac, Isabelle An, Patrícia Dias, Vincent des Portes, Marie Laure Moutard, Christine Soufflet, Monique El Maleh, Chérif Beldjord, Laurent Villard, Jamel Chelly

    Argitaratua 2010
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