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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier, Sabrina; Almoallem, Basamat; Zeitz, Christina; Van Schil, Kristof; Jeddawi, Laila; Van Dorpe, Jo; Dueñas Rey, Alfredo; Condroyer, Christel; Pelle, Olivier; Polak, Michel; Boddaert, Nathalie; Bahi-Buisson, Nadia; Cavallin, Mara; Bacquet, Jean-Louis; Mouallem-Bézière, Alexandra; Zambrowski, Olivia; Sahel, José Alain; Audo, Isabelle; Kaplan, Josseline; Rozet, Jean-Michel; De Baere, Elfride; Perrault, Isabelle.
Afiliación
  • Mechaussier S; Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France.
  • Almoallem B; Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium; Department of Ophthalmology, King Abdul-Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • Zeitz C; Sorbonne Université, INSERM, Centre National de la Recherche Scientifique, Institut de la Vision, 75012 Paris, France.
  • Van Schil K; Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Jeddawi L; Pediatric Ophthalmology Division, Dhahran Eye Specialist Hospital, Dhahran 34257, Saudi Arabia.
  • Van Dorpe J; Department of Pathology, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Dueñas Rey A; Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium.
  • Condroyer C; Sorbonne Université, INSERM, Centre National de la Recherche Scientifique, Institut de la Vision, 75012 Paris, France.
  • Pelle O; Cell Sorting Facility, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France.
  • Polak M; Endocrinology, Gynecology, and Pediatric Diabetology Department, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France.
  • Boddaert N; Department of Pediatric Radiology, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France.
  • Bahi-Buisson N; Pediatric Neurology Department, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France.
  • Cavallin M; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France.
  • Bacquet JL; Service d'Ophtalmologie, Centre Hospitalier Intercommunal de Créteil, Assistance Publique-Hôpitaux de Paris, 94000 Créteil, France.
  • Mouallem-Bézière A; Service d'Ophtalmologie, Centre Hospitalier Intercommunal de Créteil, Assistance Publique-Hôpitaux de Paris, 94000 Créteil, France.
  • Zambrowski O; Service d'Ophtalmologie, Centre Hospitalier Intercommunal de Créteil, Assistance Publique-Hôpitaux de Paris, 94000 Créteil, France; Ophthalmology Department, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France.
  • Sahel JA; Sorbonne Université, INSERM, Centre National de la Recherche Scientifique, Institut de la Vision, 75012 Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM, Direction de l'Hospitalisation et de l'Organisation des Soins (DHOS), Centres d'Investigations Cliniques (CIC)
  • Audo I; Sorbonne Université, INSERM, Centre National de la Recherche Scientifique, Institut de la Vision, 75012 Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM, Direction de l'Hospitalisation et de l'Organisation des Soins (DHOS), Centres d'Investigations Cliniques (CIC)
  • Kaplan J; Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France; Service d'Ophtalmologie, Centre Hospitalier Intercommunal de Créteil, Assistance Publique-Hôpitaux de Paris, 94000 Créteil, France.
  • Rozet JM; Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France.
  • De Baere E; Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium. Electronic address: elfride.debaere@ugent.be.
  • Perrault I; Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France. Electronic address: isabelle.perrault@inserm.fr.
Am J Hum Genet ; 106(6): 859-871, 2020 06 04.
Article en En | MEDLINE | ID: mdl-32470375
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Ceguera Nocturna / Proteínas de Unión al GTP / Enfermedades Genéticas Ligadas al Cromosoma X / Mutación con Pérdida de Función / Miopía / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Africa / Asia / Europa Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Francia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Ceguera Nocturna / Proteínas de Unión al GTP / Enfermedades Genéticas Ligadas al Cromosoma X / Mutación con Pérdida de Función / Miopía / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Africa / Asia / Europa Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Francia