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Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean-Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz-Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha-Boukbiza, Ouhaïd; Mutez, Eugenie; Carlander, Bertrand; Morales, Raul Juntas; Gonzalez, Victoria; Carra-Dalliere, Clarisse; Azakri, Souhayla; Mignard, Claude; Ollagnon, Elisabeth; Pageot, Nicolas; Chretien, Dominique; Geny, Christian; Azulay, Jean-Philippe; Tranchant, Christine; Claustres, Mireille; Labauge, Pierre; Anheim, Mathieu; Goizet, Cyril; Calvas, Patrick; Koenig, Michel.
Afiliação
  • Marelli C; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Guissart C; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, University Hospital, Montpellier, France.
  • Hubsch C; Department of Neurology, Pitié-Salpêtrière University Hospital, Paris, France.
  • Renaud M; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Villemin JP; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, University Hospital, Montpellier, France.
  • Larrieu L; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, University Hospital, Montpellier, France.
  • Charles P; Department of Genetics, Pitié-Salpêtrière University Hospital, Paris, France.
  • Ayrignac X; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Sacconi S; Peripheral Nervous System, Muscle and ALS, Neuromuscular & ALS Specialized Center, Nice University Hospital, Pasteur 2, Nice, France.
  • Collignon P; Department of Medical Genetics, Sainte Musse Hospital, Toulon, France.
  • Cuntz-Shadfar D; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Perrin L; Department of Paediatrics, University Hospital Gui de Chauliac, Montpellier, France.
  • Benarrosh A; Department of Physical Medicine and Rehabilitation and Department of Paediatric Neurology, CHU de Saint Etienne, France.
  • Degardin A; Department of Neurology, Sainte Musse Hospital, Toulon, France.
  • Lagha-Boukbiza O; Department of Neurology, University Hospital Roger Salengro, Lille, France.
  • Mutez E; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Carlander B; CHU Lille, UMR-S 1172 - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, University of Lille, Inserm, Lille, France.
  • Morales RJ; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Gonzalez V; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Carra-Dalliere C; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Azakri S; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Mignard C; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Ollagnon E; Centre de Référence des Maladies Neuro-musculaires et Neurologiques Rares du CHU de la Réunion, France.
  • Pageot N; Department of Medical Genetics and Reference Centre for Neurological and Neuromuscular Diseases, Croix-Rousse Hospital, Lyon, France.
  • Chretien D; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Geny C; INSERM UMR 1141 Robert Debré Hospital and Denis Diderot University Paris 7, Paris, France.
  • Azulay JP; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Tranchant C; Department of Neurology, La Timone University Hospital, Marseille, France.
  • Claustres M; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Labauge P; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, University Hospital, Montpellier, France.
  • Anheim M; Department of Neurology, University Hospital Gui de Chauliac, Montpellier, France.
  • Goizet C; Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
  • Calvas P; Department of Medical Genetics, Pellegrin University Hospital, and laboratoire Maladies Rares Génétique et Métabolisme (MRGM), INSERM U1211, Université Bordeaux, Bordeaux, France.
  • Koenig M; Department of Clinical Genetics, Purpan University Hospital, Toulouse, France.
Hum Mutat ; 37(12): 1340-1353, 2016 12.
Article em En | MEDLINE | ID: mdl-27528516
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Análise de Sequência de DNA / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Exoma Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Análise de Sequência de DNA / Variações do Número de Cópias de DNA / Sequenciamento de Nucleotídeos em Larga Escala / Exoma Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos