检索结果 - Marlène Rio

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  1. 1
    Spectrum of NSD1 mutations in Sotos and Weaver syndromes

    Spectrum of NSD1 mutations in Sotos and Weaver syndromes 由 Marlène Rio

    出版 2003
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  2. 2
    <i>CSNK2B</i> splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

    <i>CSNK2B</i> splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy 由 Karine Poirier, Laurence Hubert, Géraldine Viot, Marlène Rio, Pierre Billuart, Claude Besmond, Thierry Bienvenu

    出版 2017
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  3. 3
    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome 由 Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux

    出版 2004
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  4. 4
    Epileptic phenotypes in children with respiratory chain disorders

    Epileptic phenotypes in children with respiratory chain disorders 由 Sandra Sabbagh, Anne-Sophie Lèbre, Nadia Bahi‐Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Münnich, Isabelle Desguerre

    出版 2010
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  5. 5
    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto... 由 Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Münnich, Laurence Colleaux

    出版 2007
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  6. 6
    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation 由 Xavier Gérard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlène Rio, Arnold Münnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean‐Michel Rozet

    出版 2012
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  7. 7
    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation 由 Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bôle‐Feysot, Patrick Nitschké, Asma Smahi, Arnold Münnich, Laurence Colleaux

    出版 2009
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  8. 8
    A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

    A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy 由 Lam Son Nguyen, Taiane Schneider, Marlène Rio, Sébastien Moutton, Karine Siquier-Pernet, Florine Verny, Nathalie Boddaert, Isabelle Desguerre, Arnold Munich, José Luís Rosa, Valérie Cormier‐Daire, Laurence Colleaux

    出版 2015
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  9. 9
    Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

    Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy 由 Louise Galmiche, Valérie Serre, Marine Beinat, Zahra Assouline, Anne-Sophie Lèbre, Dominique Chrétien, Patrick Nietschke, Vladimı́r Beneš, Nathalie Boddaert, Daniel Sidi, Françis Brunelle, Marlène Rio, Arnold Münnich, Agnès Rötig

    出版 2011
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  10. 10
    A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

    A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome 由 Zahra Assouline, Marguerite Jambou, Marlène Rio, Christine Bôle‐Feysot, Pascale de Lonlay, Christine Barnérias, Isabelle Desguerre, C. Bonnemains, C. Guillermet, Julie Steffann, Arnold Münnich, Jean‐Paul Bonnefont, Agnès Rötig, A.S. Lebre

    出版 2012
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  11. 11
    Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

    Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy 由 Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, Giuseppe Fiermonte, Férechté Encha‐Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben‐Neriah, Noman Kadhom, Michel Vekemans, Tania Attié‐Bitach, Arnold Münnich, Pierre Rustin, Laurence Colleaux

    出版 2005
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  12. 12
    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population 由 Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bôle‐Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

    出版 2016
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  13. 13
    Key clinical features to identify girls with CDKL5 mutations

    Key clinical features to identify girls with CDKL5 mutations 由 Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Mathieu Milh, Nathalie Boddaert, Benoı̂t Girard, Claude Cancès, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu

    出版 2008
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  14. 14
    Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

    Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency 由 Laura Sánchez‐Caballero, Benedetta Ruzzenente, L Bianchi, Zahra Assouline, Giulia Barcia, Metodi D. Metodiev, Marlène Rio, Benoît Funalot, Mariël A.M. van den Brand, Sergio Guerrero‐Castillo, J. Molenaar, David A. Koolen, Ulrich Brandt, Richard J. Rodenburg, Leo Nijtmans, Agnès Rötig

    出版 2016
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  15. 15
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy 由 Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    出版 2009
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  16. 16
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome 由 Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia

    出版 2007
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  17. 17
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome 由 Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    出版 2007
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  18. 18
    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 由 Dominique Bonneau, Estelle Colin, Florine Oca, Marc Ferré, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Sylvie Nguyen, Magalie Barth, Xavier Zanlonghi, Marlène Rio, Isabelle Desguerre, Christine Barnérias, Marta Momtchilova, Diana Rodriguez, Abdelhamid Slama, Guy Lenaers, Vincent Procaccio, Patrizia Amati‐Bonneau, Pascal Reynier

    出版 2014
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  19. 19
    Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

    Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies 由 Metodi D. Metodiev, Kyle Thompson, Charlotte L. Alston, Andrew A. M. Morris, Langping He, Zarah Assouline, Marlène Rio, Nadia Bahi‐Buisson, Angela Pyle, Helen Griffin, Stefan J. Siira, Aleksandra Filipovska, Arnold Münnich, Patrick F. Chinnery, Robert McFarland, Agnès Rötig, Robert W. Taylor

    出版 2016
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  20. 20
    NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

    NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation 由 Xavier Lahaye, Matteo Gentili, Aymeric Silvin, Cécile Conrad, Léa Picard, Mabel Jouve, Elina Zueva, Mathieu Maurin, Francesca Nadalin, Gavin J. Knott, Baoyu Zhao, Fenglei Du, Marlène Rio, Jeanne Amiel, Archa H. Fox, Pingwei Li, Lucie Etienne, Charles S. Bond, Laurence Colleaux, Nicolas Manel

    出版 2018
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