Resultados da busca - Renaud Touraine

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  1. 1
    Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome

    Identification and functional analysis of<i>SOX10</i>missense mutations in different subtypes of waardenburg syndrome por Asma Chaoui, Yuli Watanabe, Renaud Touraine, Viviane Baral, Michel Goossens, Véronique Pingault, Nadège Bondurand

    Publicado em 2011
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  2. 2
    Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

    Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex por Claire Bar, Rouba Ghobeira, Rita Azzi, Dorothée Ville, Audrey Riquet, Renaud Touraine, Nicole Chémaly, Rima Nabbout

    Publicado em 2019
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  3. 3
    Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with <i><scp>SLC</scp>16A2</i> mutations

    Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with <i><scp>SLC</scp>16A2</i> mutations por Ganaëlle Remérand, Odile Boespflug‐Tanguy, Davide Tonduti, Renaud Touraine, Diana Rodriguez, Aurore Curie, Nathalie Perreton, Vincent des Portes, Catherine Sarret

    Publicado em 2019
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  4. 4
    A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

    A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy por Myriam Vézain, Pascale Saugier‐Veber, Elisa Goina, Renaud Touraine, V. Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martins

    Publicado em 2009
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  5. 5
    Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study

    Epileptogenicity in tuberous sclerosis complex: A stereoelectroencephalographic study por Andrew Neal, Karine Ostrowsky‐Coste, Julien Jung, Stanislas Lagarde, Louis Maillard, Philippe Kahane, Renaud Touraine, Hélène Catenoix, Alexandra Montavont, Jean Isnard, Alexis Arzimanoglou, Fabrice Bartoloméi, Marc Guénot, Sylvain Rheims

    Publicado em 2019
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  6. 6
    Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

    Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures por Jeanne Amiel, Yolanda Espinosa‐Parrilla, Julie Steffann, Philippe Gosset, Anna Pelet, Marguerite Prieur, Odile Boute, Agnès Choiset, Didier Lacombe, Nicole Philip, Martine Le Merrer, Hajime Tanaka, Marianne Till, Renaud Touraine, Annick Toutain, Michel Vekemans, Arnold Münnich, Stanislas Lyonnet

    Publicado em 2001
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  7. 7
    Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

    Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain por Renaud Touraine, Tania Attié‐Bitach, E. Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Férechté Encha‐Razavi, Anna Pelet, Joëlle Augé, A Nivelon‐Chevallier, A. M. Holschneider, Marc Munnes, Walter Doerfler, Michel Goossens, A Munnich, Michel Vekemans, Stanislas Lyonnet

    Publicado em 2000
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  8. 8
    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

    Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 por Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attié‐Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Echaieb Anis, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Véronique Pingault

    Publicado em 2007
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  9. 9
    Natural history of Barth syndrome: a national cohort study of 22 patients

    Natural history of Barth syndrome: a national cohort study of 22 patients por Charlotte Rigaud, Anne-Sophie Lèbre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, A. Chabli, Hélène Ansquer, Hülya Özşahin, Sylvie Di Filippo, Pascale de Lonlay, Betina Borm, François Rivier, Marie-Catherine Vaillant, Michèle Mathieu‐Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlène Rio, Damien Bonnet, Jean Donadieu

    Publicado em 2013
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  10. 10
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient por Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Publicado em 2012
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  11. 11
    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients por David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux

    Publicado em 2017
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  12. 12
    TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

    TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex por J.C. Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J. de Vries, Carla Fladrowski, Christoph Hertzberg, Anna Jansen, Sergiusz Jóźwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard A. Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères, Е. Д. Белоусова, Tom Carter, Vincent Cottin, Maria Dahlin, José C. Ferreira, Alfons Macaya, Mirjana Perković Benedik, Valentin Sander, Sotirios Youroukos, Ramon Castellana, Bulent Ulker, Martha Feucht

    Publicado em 2014
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  13. 13
    The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

    The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome por M. Reza Sailani, Periklis Makrythanasis, Armand Valsesia, Federico Santoni, Samuel Deutsch, Konstantin Popadin, Christelle Borel, Eugenia Migliavacca, Andrew J. Sharp, Geneviève Duriaux Saïl, Emilie Falconnet, Raquel Rabionet, Clara Serra‐Juhé, Stefano Vicari, Daniéla Laux, Yann Grattau, Guy Dembour, André Mégarbané, Renaud Touraine, Samantha Stora, Sofìa Kitsiou, Helena Fryssira, Chariklia Chatzisevastou-Loukidou, Emmanouel Kanavakis, Giuseppe Merla, Damien Bonnet, Luis A. Pérez‐Jurado, Xavier Estivill, Jean Maurice Delabar, Stylianos E. Antonarakis

    Publicado em 2013
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  14. 14
    TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

    TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients por J.C. Kingswood, Guillaume Beaure d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O’Callaghan, Mirjana P. Benedik, Jiong Qin, Rubén Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen

    Publicado em 2017
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  15. 15
    Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness

    Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness por J.C. Kingswood, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D ́Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen

    Publicado em 2018
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  16. 16
    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study por Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume Beaure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, J.C. Kingswood, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen

    Publicado em 2018
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  17. 17
    Epilepsy in tuberous sclerosis complex: Findings from the <scp>TOSCA</scp> Study

    Epilepsy in tuberous sclerosis complex: Findings from the <scp>TOSCA</scp> Study por Rima Nabbout, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D ́Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen, J.C. Kingswood

    Publicado em 2018
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  18. 18
    Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

    Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex por Anna Jansen, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, J.C. Kingswood

    Publicado em 2019
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  19. 19
    Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study

    Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study por Anna Jansen, Stephanie Vanclooster, Petrus J. de Vries, Carla Fladrowski, Guillaume Beaure d’Augères, Tom Carter, Elena Belousova, Mirjana P. Benedik, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, José C. Ferreira, Martha Feucht, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, J.C. Kingswood

    Publicado em 2020
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  20. 20
    Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

    Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas por J.C. Kingswood, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume Beaure d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, Anna Jansen, Matthias Sauter

    Publicado em 2020
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