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Open Access
Peer-reviewed
Research Article
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
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Isabelle Perrault,
Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France
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Alejandro Estrada-Cuzcano,
Affiliation Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Irma Lopez,
Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada
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Susanne Kohl,
Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany
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Shiqiang Li,
Affiliation State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China
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Francesco Testa,
Affiliation Department of Ophthalmology, Second University of Naples, Naples, Italy
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Renate Zekveld-Vroon,
Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands
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Xia Wang,
Affiliation Department of Molecular and Human Genetics, Baylor College of Medecine, Houston, Texas, United States of America
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Esther Pomares,
Affiliation Faculty of Biology, Department of Genetics, University of Barcelona, Barcelona, Spain
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Jean Andorf,
Affiliation Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medecine, Iowa City, Iowa, United States of America
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Nisrine Aboussair,
Affiliation Service de Génétique CHU Mohammed VI, Faculté de Médecine et de Pharmacie, Université Caddi Ayyed, Marrakech, Morocco
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Sandro Banfi,
Affiliations Telethon Institute of Genetics and Medecine (TIGEM), Naples, Italy, Medical Genetics, Department of General Pathology, Second University of Naples, Naples, Italy
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Nathalie Delphin,
Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France
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Anneke I. den Hollander,
Affiliations Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Catherine Edelson,
Affiliation Ophtalmo-pédiatrie, Fondation Rothschild, Paris, France
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Ralph Florijn,
Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands
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Marc Jean-Pierre,
Affiliation Institut Cochin, Université Paris Descartes, Paris, France
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Corinne Leowski,
Affiliation Institut National des Jeunes Aveugles, Paris, France
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Andre Megarbane,
Affiliation Service de Génétique Médicale, Université Saint Joseph, Beyrouth, Lebanon
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Cristina Villanueva,
Affiliation Servicio de Génética, Asociacion Para Evitar La Ceguera en Mexico, Mexico City, Mexico
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Blanca Flores,
Affiliation Servicio de Génética, Asociacion Para Evitar La Ceguera en Mexico, Mexico City, Mexico
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Arnold Munnich,
Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France
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Huanan Ren,
Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada
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Ditta Zobor,
Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany
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Arthur Bergen,
Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands
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Rui Chen,
Affiliation Department of Molecular and Human Genetics, Baylor College of Medecine, Houston, Texas, United States of America
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Frans P. M. Cremers,
Affiliation Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Roser Gonzalez-Duarte,
Affiliation Faculty of Biology, Department of Genetics, University of Barcelona, Barcelona, Spain
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Robert K. Koenekoop,
Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada
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Francesca Simonelli,
Affiliation Department of Ophthalmology, Second University of Naples, Naples, Italy
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Edwin Stone,
Affiliation Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medecine, Iowa City, Iowa, United States of America
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Bernd Wissinger,
Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany
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Qingjiong Zhang,
Affiliation State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China
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Josseline Kaplan,
Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France
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Jean-Michel Rozet
* E-mail: jean-michel.rozet@inserm.fr
Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France
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Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
- Isabelle Perrault,
- Alejandro Estrada-Cuzcano,
- Irma Lopez,
- Susanne Kohl,
- Shiqiang Li,
- Francesco Testa,
- Renate Zekveld-Vroon,
- Xia Wang,
- Esther Pomares,
- Jean Andorf
- Published: January 7, 2013
- https://doi.org/10.1371/journal.pone.0051622
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