المؤلفون: Malka, Samantha, Biswas, Pooja, Berry, Anne-Marie, Sangermano, Riccardo, Ullah, Mukhtar, Lin, Siying, D’Antonio, Matteo, Jestin, Aleksandr, Jiao, Xiaodong, Quinodoz, Mathieu, Sullivan, Lori, Gardner, Jessica C, Place, Emily M, Michaelides, Michel, Kaminska, Karolina, Mahroo, Omar A, Schiff, Elena, Wright, Genevieve, Cancellieri, Francesca, Vaclavik, Veronika, Santos, Cristina, Rehman, Atta Ur, Mehrotra, Sudeep, Baig, Hafiz Muhammad Azhar, Iqbal, Muhammad, Ansar, Muhammad, Santos, Luisa Coutinho, Sousa, Ana Berta, Tran, Viet H, Matsui, Hiroko, Bhatia, Anjana, Naeem, Muhammad Asif, Akram, Shehla J, Akram, Javed, Riazuddin, Ayuso, Carmen, Pierce, Eric A, Hardcastle, Alison J, Riazuddin, S Amer, Frazer, Kelly A, Hejtmancik, J Fielding, Rivolta, Carlo, Bujakowska, Kinga M, Arno, Gavin, Webster, Andrew R, Ayyagari, Radha

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Neurodegenerative, Rare Diseases, Biotechnology, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, African ancestry, South Asian, ancestral allele, ciliopathy, equity of genetic testing, ethnic genetic diversity, gene expression, non-coding genetic variation, retinal dystrophy, retinitis pigmentosa, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8h58n8pt
https://escholarship.org/content/qt8h58n8pt/qt8h58n8pt.pdf

المؤلفون: Yang, Jing, Lewis, Geoffrey, Hsiang, Chin-Hui, Menges, Steven, Luna, Gabriel, Cho, William, Turovets, Nikolay, Fisher, Steven, Klassen, Henry

المصدر: International Journal of Molecular Sciences. 25(15)

مصطلحات موضوعية: electroretinogram, intraocular injection, neuroprotection, retinal dystrophy, stem cells, Animals, Rats, Retinal Degeneration, Stem Cell Transplantation, Humans, Retina, Stem Cells, Photoreceptor Cells, Vertebrate, Disease Models, Animal

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1td0b4bx
https://escholarship.org/content/qt1td0b4bx/qt1td0b4bx.pdf

المؤلفون: Whelan, James, Green, Jane, Burstedt, Marie, Greco, Erin, Ni, Xiao, Spera, Claudio, Mullins, Anmol, Deslandes, Jean-Yves, Su, Zhenzhong, Wald, Michael, Grosskreutz, Cynthia L., Normand, Guillaume, Charil, Arnaud, Lu, Darlene, Stasi, Kalliopi, Holopigian, Karen

المصدر: Translational Vision Science & Technology. 13(11):1-14

مصطلحات موضوعية: low luminance questionnaire, national eye institute visual function questionnaire, patient-reported outcomes, quality of life, retinal dystrophy, retinaldehyde-binding protein 1 (RLBP1), visual function

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-232486
https://doi.org/10.1167/tvst.13.11.16
https://umu.diva-portal.org/smash/get/diva2:1919754/FULLTEXT01.pdf

المؤلفون: Riera Gibernau, Marina

المساهمون: University/Department: Universitat de Barcelona. Departament de Genètica

Thesis Advisors: Gonzàlez-Duarte, Roser

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Models animals en la investigació, Modelos animales en investigación, Animal models in research, Malalties de la retina, Enfermedades de la retina, Retinal diseases, Distròfies de retina, Distrofias de la retina, Retinal dystrophy, Retinosi pigmentària, Retinosis pigmentaria, Retinitis pigmentosa, Empalmament alternatiu, Splicing alternativo, Alternative splicing, Anàlisi mutacional, Análisis mutacional, Mutational analysis, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/120425

المؤلفون: Stallworth, Jeannette Y, Blair, David R, Slavotinek, Anne, Moore, Anthony T, Duncan, Jacque L, de Alba Campomanes, Alejandra G

المصدر: Ophthalmic Genetics. 44(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Clinical Research, Neurosciences, Rare Diseases, Pediatric, Genetics, Genetic Testing, Human Genome, 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, Eye, Child, Female, Humans, Ubiquinone, Retinal Dystrophies, Visual Fields, Electroretinography, Optic Atrophy, Mutation, Tomography, Optical Coherence, Primary coenzyme Q(10) deficiency, cone-rod retinal dystrophy, optic atrophy, whole-exome genetic sequencing, Primary coenzyme Q10 deficiency, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0hm8k6h8
https://escholarship.org/content/qt0hm8k6h8/qt0hm8k6h8.pdf

المؤلفون: Garanto Iglesias, Alejandro

المساهمون: University/Department: Universitat de Barcelona. Departament de Genètica

Thesis Advisors: Gonzàlez-Duarte, Roser, Marfany i Nadal, Gemma

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Retinosi pigmentària, Distròfia de retina, Models animals, Esfingolípids, Esfingolípidos, Sphingolipids, Retinosis pigmentaria, Retinitis pigmentosa, Retinal dystrophy, Modelos animales, Animal models, CERKL, Ciències Experimentals i Matemàtiques

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/96312

المؤلفون: García Ayuso, Diego

Thesis Advisors: Villegas Pérez, María Paz, Agudo Barriuso, Marta, Universidad de Murcia. Departamento de Oftalmología, Otorrinolaringología y Anatomía Patológica

المصدر: TDR (Tesis Doctorales en Red)

مصطلحات موضوعية: Células ganglionares de la retina, retinal ganglion cells, degeneración de los fotorreceptores, Photoreceptor degeneration, Fototoxicidad, Phototoxicity, Degeneración hereditaria de la retina, Inherited retinal degeneration, Distrofia retiniana, Retinal dystrophy, Capa de fibras nerviosas de la retina, Retinal nerve fiber layer, Compresión axonal, axonal compression, Mutación de la rodopsina, Rhodopsin mutation, neurodegeneración, neurodegeneration, Ciencias de la visión

Time: 616.8

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/38877

المؤلفون: Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggiani

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Inherited retinal dystrophy, Autosomal recessive retinitis pigmentosa, EYS gene variant, Pseudodominant inheritance, Genetic testing, Copy-number variation, Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/19c63ac2433e44ae8524a2bb4611ce55

المؤلفون: Xiaonan Liu, Anna Pacwa, Giorgia Bresciani, Marta Swierczynska, Mariola Dorecka, Adrian Smedowski

المصدر: Molecular Medicine, Vol 30, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Retinal ciliopathy, Retinitis pigmentosa, Retinal dystrophy, Photoreceptors, RGC cells, Inherited blindness, Therapeutics. Pharmacology, RM1-950, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1528-3658

URL الوصول: https://doaj.org/article/bd0ceb0902444a55924bcb0841fec17c

المؤلفون: Ari H. August, Rebecca A. Procopio, Christopher J. Rapuano, José S. Pulido

المصدر: American Journal of Ophthalmology Case Reports, Vol 37, Iss , Pp 102262- (2025)

مصطلحات موضوعية: ADAMTS18, Microcornea, Myopic chorioretinal atrophy, And telecanthus (MMCAT) syndrome, Vitreoretinal degeneration, Hereditary retinal dystrophy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993625000155; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/c0fbdcf061ed46b191fd609b24030b38

المؤلفون: Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, Froylan Garcia‐Martínez, Luis Montes‐Almanza, Juan C. Zenteno

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)

مصطلحات موضوعية: copy number variation, deletion, exome sequencing, retinal dystrophy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/4f8c2030f5db48fdbf5b4b3d38238ac7

المؤلفون: Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: inherited retinal dystrophy, Leber congenital amaurosis, electroretinography, RPE65 gene mutation, whole exome sequencing, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1442107/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/0140d53651fb47e9808b8b5d93959952

المؤلفون: Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H

المصدر: Orphanet Journal of Rare Diseases. 17(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Genetics, Neurosciences, Clinical Research, Neurodegenerative, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Eye, Carrier Proteins, Electroretinography, Genetic Association Studies, Humans, Mutation, Phenotype, Retinal Dystrophies, TTLL5, Inherited retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy, Cone dystrophy, Autosomal recessive, Cone–rod dystrophy, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/59g1m12n
https://escholarship.org/content/qt59g1m12n/qt59g1m12n.pdf

المؤلفون: Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: TUBB4B, Hereditary retinal dystrophy, Leber congenital amaurosis, Retinitis pigmentosa, Hearing loss, Structural analysis, Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/8ed648043ce34aba9586e83dd5fbdd7c

المؤلفون: Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal

المصدر: Disease Models & Mechanisms, Vol 17, Iss 8 (2024)

مصطلحات موضوعية: ribosomal rescue, hbs1l, pelo, retinal dystrophy, photoreceptor cell, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/17/8/dmm050557; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/d5f4ed2c3c5d4bf0b9ee27ab5b0d1cf5

المؤلفون: Frederico França Marques, Guilherme Bufarah, Daniela Meira Villano Marques, Bernardo Kaplan Moscovici, Daniel Diniz Da Gama, Sung Eun Song Watanabe, Octaviano Magalhaes Junior

المصدر: The Pan-American Journal of Ophthalmology, Vol 6, Iss 3, Pp 110-110 (2024)

مصطلحات موضوعية: cataract surgery, intraocular lens implantation, retinal dystrophy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://journals.lww.com/10.4103/pajo.pajo_27_24; https://doaj.org/toc/2666-4909

URL الوصول: https://doaj.org/article/f84b6f84523e495da4d317d666ee4bf7

المؤلفون: Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G, Pitceathly, Robert DS, Cordeiro, Francesca, Raymond, F Lucy, Moore, Anthony T, Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R, Arno, Gavin

المصدر: Investigative Ophthalmology & Visual Science. 62(15)

مصطلحات موضوعية: Human Genome, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Eye, Good Health and Well Being, Adolescent, Amino Acid Sequence, Child, Preschool, DNA, Mitochondrial, DNA-Binding Proteins, Electroretinography, Female, Genes, Recessive, Genotyping Techniques, Humans, Male, Middle Aged, Mitochondrial Diseases, Mitochondrial Proteins, Molecular Conformation, Molecular Sequence Data, Mutation, Missense, Optic Atrophy, Pedigree, Penetrance, Protein Stability, Protein Structure, Quaternary, Retinal Dystrophies, Whole Genome Sequencing, SSBP1, mtSSB, mtDNA replication, inherited optic neuropathy, retinal dystrophy, Genomics England Research Consortium, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5998j8pw
https://escholarship.org/content/qt5998j8pw/qt5998j8pw.pdf

المؤلفون: Milibari, Doaa, Magliyah, Moustafa, Semidey, Valmore A., Schatz, Patrik, Albalawi, Hani B.

المصدر: Clinics and Practice. 12(4):491-500

مصطلحات موضوعية: AGBL5, ciliopathy, ffERG, retinal dystrophy, RPGR, URP, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

URL الوصول: https://lup.lub.lu.se/record/50d1e9ee-a363-4b2b-aa4d-27714ce3e16f
http://dx.doi.org/10.3390/clinpract12040053

المؤلفون: Ágnes Jánossy, Eszter Vizvári, Máté Lőrincz, Szilvia Pál, Dóra Nagy, György Benedek, Edit Tóth-Molnár, Márta Janáky

المصدر: Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 454-461 (2023)

مصطلحات موضوعية: hereditary retinal dystrophy, leber’s congenital amaurosis, genetic treatment, electrophysiology, optical coherence tomography, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/530086; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/31cb056921834579b7611b4116e913a7

المؤلفون: Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck

المصدر: BMC Ophthalmology, Vol 23, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Inherited retinal dystrophy, Retinitis pigmentosa, Whole genome sequencing, GNPTG, Mucolipidosis type III gamma, Lysosomal disease, Ophthalmology, RE1-994

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/b0f3728a7d6c4dc781823ff03b46ad90