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Autor:
Peter, Virginie G, Kaminska, Karolina, Santos, Cristina, Quinodoz, Mathieu, Cancellieri, Francesca, Cisarova, Katarina, Pescini Gobert, Rosanna, Rodrigues, Raquel, Custódio, Sónia, Paris, Liliana P, Sousa, Ana Berta, Coutinho Santos, Luisa, Rivolta, Carlo
Publikováno v:
Peter, Virginie G; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Pescini Gobert, Rosanna; Rodrigues, Raquel; Custódio, Sónia; Paris, Liliana P; Sousa, Ana Berta; Coutinho Santos, Luisa; Rivolta, Carlo (2023). The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus, 2(3), pgad043. Oxford University Press 10.1093/pnasnexus/pgad043
PNAS nexus, vol. 2, no. 3, pp. pgad043
PNAS nexus, vol. 2, no. 3, pp. pgad043
Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so f
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Autor:
Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Coutinho Santos, Luisa, Damme, Markus, Rivolta, Carlo
Publikováno v:
Human Mutation; Mar2021, Vol. 42 Issue 3, p261-271, 11p
Akademický článek
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Autor:
Iglesias-Romero AB; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland., Kaminska K; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland., Quinodoz M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK., Folcher M; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland., Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Greenwood Genetic Center, Greenwood, SC 29646, USA., Calado J; ToxOmics, NOVA Medical School, Universidade Nova de Lisboa, 1169-056 Lisboa, Portugal., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the Institute of Ophthalmology, London, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Moulin A; Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, 1004 Lausanne, Switzerland., Sousa AB; Department of Medical Genetics, Centro Hospitalar Universitario Lisboa Norte EPE, 1649-028 Lisboa, Portugal; Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal., Coutinho-Santos L; Instituto de Oftalmologia Dr. Gama Pinto, 1150-255 Lisboa, Portugal., Santos C; Instituto de Oftalmologia Dr. Gama Pinto, 1150-255 Lisboa, Portugal; iNOVA4Health, Universidade NOVA de Lisboa NOVA Medical School, 1150-082 Lisboa, Portugal., Rivolta C; Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland; Department of Ophthalmology, Universität Basel, 4031 Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK. Electronic address: carlo.rivolta@iob.ch.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.
Autor:
Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Peter VG; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.; Institute of Experimental Pathology, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Bedoni N; Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Royer Bertrand B; Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Cisarova K; Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Salmaninejad A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Sepahi N; Noncommunicable Diseases Research Center, Fasa University of Sciences, Fasa, Iran., Rodrigues R; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal., Piran M; Noncommunicable Diseases Research Center, Fasa University of Sciences, Fasa, Iran.; Bioinformatics and Computational Biology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Pasdar A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Division of Applied Medicine, Medical School, University of Aberdeen, Aberdeen, UK., Ghanbari Asad A; Noncommunicable Diseases Research Center, Fasa University of Sciences, Fasa, Iran., Sousa AB; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.; Medical Faculty, Lisbon University, Lisbon, Portugal., Coutinho Santos L; Instituto de Oftalmologia Dr Gama Pinto, Lisbon, Portugal., Superti-Furga A; Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Ophthalmology, University of Basel, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK. carlo.rivolta@iob.ch.
Publikováno v:
Nature communications [Nat Commun] 2021 Jan 22; Vol. 12 (1), pp. 518. Date of Electronic Publication: 2021 Jan 22.