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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K; Sergouniotis, Panagiotis I; Le Meur, Guylène; Dhaenens, Claire-Marie; Naacke, Hélène; Avila-Fernández, Almudena; Hoyng, Carel B; Klevering, Jeroen; Bocquet, Béatrice; Roubertie, Agathe; Sénéchal, Audrey; Banfi, Sandro; Muller, Agnès; Hamel, Christian L; Black, Graeme C; Conte, Ivan; Roosing, Susanne; Zanlonghi, Xavier; Ayuso, Carmen; Meunier, Isabelle; Manes, Gaël.
Afiliación
  • Olivier G; Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France.
  • Corton M; Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France.
  • Intartaglia D; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM)-Center for Biomedical Network Research on Rare Diseases-(CIBERER), Madrid, Spain.
  • Verbakel SK; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Telethon Institute of Genetics and Medicine, Pozzuoli (NA), and Medical Genetics, Naples, Italy.
  • Sergouniotis PI; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Le Meur G; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester Royal Eye Hospital, Manchester, M13 9WL, UK.
  • Dhaenens CM; Service Ophtalmologie, CHU Nantes, Nantes Université, Nantes, France.
  • Naacke H; University Lille-Nord de France, INSERM U837, Lille, France.
  • Avila-Fernández A; Lille Neuroscience & Cognition, LilNCog, Lille, France.
  • Hoyng CB; Service d'ophtalmologie, Clinique Saint Joseph, Angouleme, Nouvelle Aquitaine, France.
  • Klevering J; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM)-Center for Biomedical Network Research on Rare Diseases-(CIBERER), Madrid, Spain.
  • Bocquet B; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roubertie A; Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sénéchal A; Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France.
  • Banfi S; Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France.
  • Muller A; Département de Neuropédiatrie, CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, Hérault, France.
  • Hamel CL; Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, Hérault, France.
  • Black GC; Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France.
  • Conte I; Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France.
  • Roosing S; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Zanlonghi X; Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France.
  • Ayuso C; Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France.
  • Meunier I; Service d'ophtalmologie, Hôpital Gui de Chauliac, CHU Montpellier, Montpellier, France.
  • Manes G; Department of Genetic Medicine, University of Manchester, Manchester, UK.
J Med Genet ; 58(8): 570-578, 2021 08.
Article en En | MEDLINE | ID: mdl-32817297
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteoglicanos / Retinitis Pigmentosa / Proteínas de la Matriz Extracelular / Predisposición Genética a la Enfermedad / Proteínas del Ojo / Genes Recesivos / Mutación Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteoglicanos / Retinitis Pigmentosa / Proteínas de la Matriz Extracelular / Predisposición Genética a la Enfermedad / Proteínas del Ojo / Genes Recesivos / Mutación Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido