المؤلفون: Montaser, Ahmed, Gao, Fangyuan, Peters, Danielle, Vainionpää, Katri, Zhibin, Ning, Skowronska-Krawczyk, Dorota, Figeys, Daniel, Palczewski, Krzysztof, Leinonen, Henri

المصدر: Molecular & Cellular Proteomics. 23(11)

مصطلحات موضوعية: P23H, Rpe65(−/−), inherited retinal degenerations, rd10, retinal degeneration, retinal proteome, retinitis pigmentosa, Animals, Retinitis Pigmentosa, Disease Models, Animal, Proteome, Mice, Retina, Retinal Degeneration, Cyclic Nucleotide Phosphodiesterases, Type 6, Proteomics, Eye Proteins, Mice, Inbred C57BL, Leber Congenital Amaurosis, cis-trans-Isomerases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5qt534x8
https://escholarship.org/content/qt5qt534x8/qt5qt534x8.pdf

المؤلفون: Celso Costa, Carlos Nogueira, Mário Soares, Silvia Simão, Pedro Melo, Rufino Silva, Joaquim Murta, João Pedro Marques

المصدر: International Journal of Retina and Vitreous, Vol 10, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Inherited-retinal degenerations, Retinitis pigmentosa, Cystoid macular edema, Michigan retinal degeneration questionnaire, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-9920

URL الوصول: https://doaj.org/article/06e264b3174d44b1a066f84a1ac9b228

المؤلفون: João Pedro Marques, Nuno Ferreira, Natacha Moreno, Ana Marta, Sara Vaz-Pereira, Sérgio Estrela-Silva, José Costa, Ana Rocha Cardoso, Pedro Neves, Lilianne Duarte, Dália Meira, Joana Pires, Carlos Menezes, Filipa Rodrigues, Pedro Arede, André Coutinho, Diogo Cabral, Inês Coutinho, Miguel Ribeiro, Marta Macedo, Sérgio Brito, Filipe Isidro, Filipa Gomes Rodrigues, João Paulo Castro Sousa, Marco Marques, Raquel Martins, Eduardo Silva

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Inherited retinal degenerations, Genetic testing, Ophthalmic genetics, Rare eye diseases, Epidemiology, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/8fa619834869439da0bcbb2fd5623541

المؤلفون: Christensen, Gustav, Urimi, Dileep, Lorenzo‐Soler, Laura, Schipper, Nicolaas, Paquet-Durand, François

المصدر: European journal of pharmaceutics and biopharmaceutics. 187:175-183

مصطلحات موضوعية: Drug delivery, Explant cultures, Inherited retinal degenerations, Intravitreal injections, Lipid nanocapsules, Liposomes

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:ri:diva-64844
https://doi.org/10.1016/j.ejpb.2023.04.012

المؤلفون: De Silva, Samantha R, Moore, Anthony T

المصدر: The Journal of Physiology. 600(21)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurodegenerative, Regenerative Medicine, Rare Diseases, Gene Therapy, Biotechnology, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Eye, Adult, Humans, Retinal Degeneration, Optogenetics, Genetic Therapy, Vision, Ocular, gene therapy, inherited retinal degenerations, optogenetics, Biological Sciences, Medical and Health Sciences, Physiology, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6ph636z1
https://escholarship.org/content/qt6ph636z1/qt6ph636z1.pdf

المؤلفون: Wensheng Li, Qinxiang Zheng, Bo Chen, Radouil Tzekov

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: retina, editorial, inherited retinal degenerations, gene therapy, review, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1470998/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/2b81ad0b811c47e4938ae2c8521373db

المؤلفون: Asad Munir, Salma Afsar, Atta Ur Rehman

المصدر: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Inherited retinal degenerations, Consanguinity, Homozygous, Monogenic disorders, Pakistan, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/483403039c834f3e9be3706777fa1962

المؤلفون: Durham, Todd A, Duncan, Jacque L, Ayala, Allison R, Birch, David G, Cheetham, Janet K, Ferris, Frederick L, Hoyng, Carel B, Pennesi, Mark E, Sahel, José-Alain, Group, for the Foundation Fighting Blindness Consortium Investigator

المصدر: Translational Vision Science & Technology. 10(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Orphan Drug, Neurosciences, Rare Diseases, Neurodegenerative, 2.1 Biological and endogenous factors, Eye, Blindness, Choroideremia, Color Vision Defects, Humans, Leber Congenital Amaurosis, inherited retinal degenerations, retinitis pigmentosa, consortium, infrastructure, genetic, natural history, outcome measures, Foundation Fighting Blindness Consortium Investigator Group, Biomedical Engineering, Opthalmology and Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/72t44439
https://escholarship.org/content/qt72t44439/qt72t44439.pdf

المؤلفون: Asad Munir, Salma Afsar, Atta Ur Rehman

مصطلحات موضوعية: Genetics, Inherited retinal degenerations, Consanguinity, Homozygous, Monogenic disorders, Pakistan

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_systematic_review_of_inherited_retinal_dystrophies_in_Pakistan_updates_from_1999_to_April_2023/25150575

الاتاحة: https://doi.org/10.6084/m9.figshare.25150575.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_systematic_review_of_inherited_retinal_dystrophies_in_Pakistan_updates_from_1999_to_April_2023/25150575

المؤلفون: Marcus P. Conway, Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Tomas Burke, Jacqueline Turner, Francois Thai Le, James J. O’Byrne, David J. Keegan

المصدر: Life, Vol 14, Iss 1, p 107 (2024)

مصطلحات موضوعية: inherited retinal degenerations, ophthalmic genetics, syndromic retinopathy, multidisciplinary team, Science

Relation: https://www.mdpi.com/2075-1729/14/1/107; https://doaj.org/toc/2075-1729; https://doaj.org/article/65a4dbddf55c48be9b4d8ee0e740b47b

الاتاحة: https://doi.org/10.3390/life14010107
https://doaj.org/article/65a4dbddf55c48be9b4d8ee0e740b47b

المؤلفون: Biswas, Pooja, Borooah, Shyamanga, Matsui, Hiroko, Voronchikhina, Marina, Zhou, Jason, Zawaydeh, Qais, Raghavendra, Pongali B, Ferreyra, Henry, Riazuddin, S Amer, Wahlin, Karl, Frazer, Kelly A, Ayyagari, Radha

المصدر: Human Mutation. 42(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Neurodegenerative, Human Genome, Stem Cell Research - Induced Pluripotent Stem Cell, Biotechnology, Neurosciences, Clinical Research, Stem Cell Research, 2.1 Biological and endogenous factors, Eye, Female, Humans, Induced Pluripotent Stem Cells, Leukocytes, Mononuclear, Mutation, Phagocytosis, Retinal Degeneration, Retinal Pigment Epithelium, Whole Genome Sequencing, c-Mer Tyrosine Kinase, disease modelling, human iPSC‐, RPE, inherited retinal degenerations, RPE phagocytosis, whole genome sequencing, human iPSC-RPE, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7vk3p6k1
https://escholarship.org/content/qt7vk3p6k1/qt7vk3p6k1.pdf

المؤلفون: Isabelle Audo, Francesco Patalano, Christel Naujoks, Claudio Spera, M. Dominik Fischer, Jane Green, Christine Kay, Todd Durham, Nicola Williamson, Helena Bradley, Melissa Barclay, Kieran Boparai, Judit Banhazi

المصدر: Ophthalmology and Therapy, Vol 12, Iss 4, Pp 2069-2085 (2023)

مصطلحات موضوعية: Clinical outcome assessment, Health-related quality of life, Inherited retinal degenerations, Leber congenital amaurosis, Observer-reported outcome, Patient-reported outcome, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2193-8245; https://doaj.org/toc/2193-6528

URL الوصول: https://doaj.org/article/b7961033a6cd4deeb8df0cd4f0d46538

المؤلفون: Mustafi, Debarshi, Arbabi, Amirmohsen, Ameri, Hossein, Palczewski, Krzysztof

المصدر: Pharmaceuticals (Basel, Switzerland). 12(2)

مصطلحات موضوعية: RNA-Seq, drug discovery, geographic expression, inherited retinal degenerations, retina, retinal gene distribution, retinal gene functionality, systems pharmacology, Pharmacology and Pharmaceutical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/42m7w3fb

المؤلفون: Little, Abigail May

المساهمون: Hurd, Toby, Davey, Megan

مصطلحات موضوعية: Inherited Retinal Degenerations, Retinitis Pigmentosa, RP2, ARL3, photoreceptor death, CRISPR editing

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.783578

المؤلفون: Michael J. Gilhooley, Moritz Lindner, Teele Palumaa, Steven Hughes, Stuart N. Peirson, Mark W. Hankins

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 111-123 (2022)

مصطلحات موضوعية: inherited retinal degenerations, melanopsin, ReaChR, optogenetics, bipolar cells, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S232905012200033X; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/389b4ef8b91348ca90be5783efcfc4e6

المؤلفون: Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Childhood blindness, Cone vision, Inherited retinal degenerations, Low vision, Outcome measures, Rod vision, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/4f566c28bcc847919134b0de297a8186

المؤلفون: Vingolo EM

المصدر: Clinical Ophthalmology, Vol Volume 16, Pp 1413-1417 (2022)

مصطلحات موضوعية: covid-19, retinitis pigmentosa, vaccination, inherited retinal degenerations., Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.dovepress.com/covid-19-vaccines-in-inherited-retinal-degenerations-ird-fears-ideas-a-peer-reviewed-fulltext-article-OPTH; https://doaj.org/toc/1177-5483

URL الوصول: https://doaj.org/article/ae803e773cf64c8e9c6cb9c19c0e9f2a

المؤلفون: Lindsey A. Chew, Alessandro Iannaccone

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: inherited retinal degenerations, retinal dystrophies, gene therapy, gene-agnostic, optogenetics, photoreceptor transplantation, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1177838/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/bc670b6662884fdeafe0ebebb0104f7e

المؤلفون: Farrar, Gwyneth

مصطلحات موضوعية: inherited retinal degenerations (IRDs), panel-based next-generation sequencing (pNGS), autosomal recessive disease, Whole exome sequencing, Unresolved inherited retinal degenerations, Single gene sequencing, Retinal dystrophy, Next generation sequencing, Genetic testing, Inherited retinal degenerations

Relation: International Journal of Molecular Sciences; 23; 2; Stephenson, K.A.J. and Zhu, J. and Dockery, A. and Whelan, L. and Burke, T. and Turner, J. and Oâ byrne, J.J. and Jane Farrar, G. and Keegan, D.J., Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing, International Journal of Molecular Sciences, 2022, 23, 2; Y; http://hdl.handle.net/2262/98251; http://people.tcd.ie/gjfarrar; 239065; http://dx.doi.org/10.3390/ijms23020995

الاتاحة: http://hdl.handle.net/2262/98251
http://people.tcd.ie/gjfarrar
https://doi.org/10.3390/ijms23020995

المؤلفون: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1e2946a4b4e241398534724d3c217c69