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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet, Anaïs F; Grunewald, Olivier; Vaclavik, Veronika; Meunier, Isabelle; Drumare, Isabelle; Pelletier, Valérie; Bocquet, Béatrice; Todorova, Margarita G; Le Moing, Anne-Gaëlle; Devos, Aurore; Schorderet, Daniel F; Jobic, Florence; Defoort-Dhellemmes, Sabine; Dollfus, Hélène; Smirnov, Vasily M; Dhaenens, Claire-Marie.
Afiliação
  • Poncet AF; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.
  • Grunewald O; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.
  • Vaclavik V; University of Lausanne, Jules-Gonin Eye Hospital, 1004 Lausanne, Switzerland.
  • Meunier I; Cantonal Hospital, Department of Ophthalmology, 1700 Fribourg, Switzerland.
  • Drumare I; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, F-34000 Montpellier, France.
  • Pelletier V; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, F-34000 Montpellier, France.
  • Bocquet B; Exploration de la Vision et Neuro-Ophtalmology, CHU de Lille, F-59000 Lille, France.
  • Todorova MG; Centre de Référence pour les Affections Rares en Génétique Ophtalmologiques, Hopitaux Universitaires de Strasbourg, F-67000 Strasbourg, France.
  • Le Moing AG; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, F-34000 Montpellier, France.
  • Devos A; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, F-34000 Montpellier, France.
  • Schorderet DF; Department of Ophthalmology, Cantonal Hospital, 9007 St. Gallen, Switzerland.
  • Jobic F; Department of Ophthalmology, University of Zürich, 8091 Zürich, Switzerland.
  • Defoort-Dhellemmes S; Department of Ophthalmology, University of Basel, 4056 Basel, Switzerland.
  • Dollfus H; Department of Child Neurology, Amiens-Picardy University Hospital, F-80000 Amiens, France.
  • Smirnov VM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.
  • Dhaenens CM; Faculty of Biology and Medicine, University of Lausanne and Faculty of Life Sciences, Ecole Polytechnique Fédérale of Lausanne, 1004 Lausanne, Switzerland.
Int J Mol Sci ; 23(8)2022 Apr 13.
Article em En | MEDLINE | ID: mdl-35457110
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article