المؤلفون: Ardon, Monica, Nguyen, Lily, Chen, Rui, Rogers, Jeffrey, Stout, Tim, Thomasy, Sara, Moshiri, Ala

المصدر: Investigative Ophthalmology & Visual Science. 65(14)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Neurosciences, Genetics, 2.1 Biological and endogenous factors, Eye, Animals, Electroretinography, Tomography, Optical Coherence, Macaca mulatta, Cyclic Nucleotide Phosphodiesterases, Type 6, Retinal Cone Photoreceptor Cells, Disease Progression, Male, Female, Color Vision Defects, Disease Models, Animal, Mutation, Missense, Phenotype, Retinal Rod Photoreceptor Cells, Fluorescein Angiography, Homozygote, Cone Dystrophy, genetic diseases, ophthalmology, PDE6C, achromatopsia, photore- ceptors, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/67c8w32c
https://escholarship.org/content/qt67c8w32c/qt67c8w32c.pdf

المصدر: A Phase 1/2a Study of Subretinal Administration of OpCT-001 Photoreceptor Precursor Cells Derived from IPSCs in Patients with Primary Photoreceptor Disease

المصدر: A Phase I/II Study to Assess the Safety and Tolerability of a Single Subretinal Administration of SPVN06 Gene Therapy in Subjects with Rod-Cone Dystrophy (RCD) Due to a Mutation in the RHO, PDE6A, or PDE6B Gene

المؤلفون: Xiaoli Zhang, Shun Yao, Lujia Zhang, Beisi Zhang, Mingzhu Yang, Qingge Guo, Jin Xu, Zhongfeng Wang, Bo Lei, Xiuxiu Jin

المصدر: FASEB BioAdvances, Vol 6, Iss 11, Pp 555-564 (2024)

مصطلحات موضوعية: apoptosis, ARL3, mitochondria, mutation, rod‐cone dystrophy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2573-9832

URL الوصول: https://doaj.org/article/8b89c51d5f1143699d937fb8b3c3cfcd

المؤلفون: Alexis Ceecee Britten-Jones, BOptom (Hons), PhD, Chi D. Luu, BOrth (Hons), PhD, Jasleen K. Jolly, MSc, DPhil, Carla J. Abbott, BOptom, PhD, Penelope J. Allen, MBBS, FRANZCO, Tina Lamey, PhD, Terri McLaren, BSc, Jennifer A. Thompson, PhD, John De Roach, PhD, Thomas L. Edwards, PhD, FRANZCO, Lauren N. Ayton, BOptom, PhD

المصدر: Ophthalmology Science, Vol 5, Iss 2, Pp 100649- (2025)

مصطلحات موضوعية: Retinitis pigmentosa, Inherited retinal disease, Rod-cone dystrophy, Cone-rod dystrophy, Natural history, Ophthalmology, RE1-994

Relation: http://www.sciencedirect.com/science/article/pii/S2666914524001854; https://doaj.org/toc/2666-9145; https://doaj.org/article/cb266a848dae4b4f9180c27d3cfda2ff

الاتاحة: https://doi.org/10.1016/j.xops.2024.100649
https://doaj.org/article/cb266a848dae4b4f9180c27d3cfda2ff

المؤلفون: National Eye Institute (NEI)

المساهمون: Daniel Hammer, Deputy Director, Division of Biomedical Physics

المصدر: Adaptive Optics Imaging of Outer Retinal Diseases

المؤلفون: Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Hearing loss, Cone dystrophy, Achromatopsia, Whole exome sequencing, PDZD7, PDE6C, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/0953796e171344b2b31b2ac8dbdb4ba3

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: Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shamieh

المصدر: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: CRB1, Rod-cone dystrophy, Leber congenital Amaurosis, Genotype-phenotype, Ophthalmology, RE1-994

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/2f9fa42411304ac999e2c93ed33dc9eb

المؤلفون: Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: ARL2BP, Syndromic rod-cone dystrophy, Renal agenesis, Cryptorchidism, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/1af6536faa4e4fd2b67af9635c62c787

المؤلفون: Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P. M. Cremers, Susanne Roosing, Tamar Ben-Yosef

المصدر: Current Issues in Molecular Biology, Vol 46, Iss 3, Pp 2566-2575 (2024)

مصطلحات موضوعية: retina, retinitis pigmentosa, rod–cone dystrophy, BBS9, Bardet–Biedl syndrome, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/46/3/163; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/957bdc72c35d4714ac632f1170ffbc9d

المؤلفون: Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran

المصدر: Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)

مصطلحات موضوعية: gnb1, rod-cone dystrophy, retinitis pigmentosa, inherited retinal disease, case report, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/537997; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/0860ff5ddc024d86ada8fe8cf5af697c

المصدر: Foundation Fighting Blindness My Retina Tracker Registry

المؤلفون: Rodrigo Manuel Robalo Curado Vilares Morgado, Ana Margarida Ferreira, Renato Santos-Silva, Rita Quental, Angela Carneiro, Sérgio Estrela-Silva

المصدر: Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 519-527 (2023)

مصطلحات موضوعية: cohen syndrome, pigmentary retinopathy, vsp13b, rod-cone dystrophy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/533974; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/5972c07ec35447f282b072e3b82a7d22

المصدر: Functional Study of Intronic Variants in Inherited Cone Disorders

المؤلفون: D'Esposito, Fabiana, Randazzo, Viviana, Vega, Maria Igea, Esposito, Gabriella, Maltese, Paolo Enrico, Torregrossa, Salvatore, Scibetta, Paola, Listi, Florinda, Gagliano, Caterina, Scalia, Lucia, Pioppo, Antonino, Marino, Antonio, Piergentili, Marco, Malvone, Emanuele, Fioretti, Tiziana, Vitrano, Angela, Piccione, Maria, Avitabile, Teresio, Salvatore, Francesco, Bertelli, Matteo, Costagliola, Ciro, Cordeiro, Maria Francesca, Maggio, Aurelio, D'Alcamo, Elena

المصدر: Medicina , 60 (2) , Article 254. (2024)

مصطلحات موضوعية: Rod–cone dystrophy, retinitis pigmentosa, RP1 gene, founder effect, inherited retinal dystrophies, founder mutation

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10196418/1/iRP1i%20Dominant%20p.Ser740%20Pathogenic%20Variant%20in%2020%20Knowingly%20Unrelated%20Families%20Affected%20by%20Rod-Cone%20Dystrophy%20Potential%20Found.pdf; https://discovery.ucl.ac.uk/id/eprint/10196418/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10196418/1/iRP1i%20Dominant%20p.Ser740%20Pathogenic%20Variant%20in%2020%20Knowingly%20Unrelated%20Families%20Affected%20by%20Rod-Cone%20Dystrophy%20Potential%20Found.pdf
https://discovery.ucl.ac.uk/id/eprint/10196418/

المؤلفون: D'Esposito F., Randazzo V., Vega M. I., Esposito G., Maltese P. E., Torregrossa S., Scibetta P., Listi F., Gagliano C., Scalia L., Pioppo A., Marino A., Piergentili M., Malvone E., Fioretti T., Vitrano A., Piccione M., Avitabile T., Salvatore F., Bertelli M., Costagliola C., Cordeiro M. F., Maggio A., D'Alcamo E.

المساهمون: D'Esposito F., Randazzo V., Vega M.I., Esposito G., Maltese P.E., Torregrossa S., Scibetta P., Listi F., Gagliano C., Scalia L., Pioppo A., Marino A., Piergentili M., Malvone E., Fioretti T., Vitrano A., Piccione M., Avitabile T., Salvatore F., Bertelli M., Costagliola C., Cordeiro M.F., Maggio A., D'Alcamo E.

مصطلحات موضوعية: RP1 gene, founder effect, founder mutation, inherited retinal dystrophies, retinitis pigmentosa, rod–cone dystrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/38399542; info:eu-repo/semantics/altIdentifier/wos/WOS:001175202500001; volume:60; issue:2; numberofpages:11; journal:MEDICINA; https://hdl.handle.net/10447/630653

الاتاحة: https://hdl.handle.net/10447/630653
https://doi.org/10.3390/medicina60020254

المؤلفون: de Guimaraes, Thales AC, Lai, Francesco, Colombatti, Raffaella, Sato, Giovanni, Rizzo, Roberta, Kalitzeos, Angelos, Michaelides, Michel

المصدر: Ophthalmic Genetics pp. 1-10. (2024) (In press).

مصطلحات موضوعية: adaptive optics, AOSLO, cone dystrophy, cone-rod dystrophy, hypomorphic, inherited, KCNV2, microperimetry, VFMA

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10189811/1/Structural%20and%20functional%20characterization%20of%20an%20individual%20with%20the%20M285R%20KCNV2%20hypomorphic%20allele.pdf; https://discovery.ucl.ac.uk/id/eprint/10189811/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10189811/1/Structural%20and%20functional%20characterization%20of%20an%20individual%20with%20the%20M285R%20KCNV2%20hypomorphic%20allele.pdf
https://discovery.ucl.ac.uk/id/eprint/10189811/

المؤلفون: McGuinness, Myra B., Ayton, Lauren N., Schofield, Deborah, Britten-Jones, Alexis Ceecee, Chen, Fred K., Grigg, John R., Qi, Ziyi, Kraindler, Joshua, Shrestha, Rupendra, Mack, Heather G.

المصدر: McGuinness , M B , Ayton , L N , Schofield , D , Britten-Jones , A C , Chen , F K , Grigg , J R , Qi , Z , Kraindler , J , Shrestha , R & Mack , H G 2024 , ' EQ-5D-5L health utility scores in Australian adults with inherited retinal diseases : A cross-sectional survey ' , Acta Ophthalmologica , vol. 102 , no. 5 , pp. e736-e745 . https://doi.org/10.1111/aos.16634

مصطلحات موضوعية: health utility, inherited retinal disease, macular dystrophy, patient-reported outcome measures, patient-reported outcomes, retinitis pigmentosa, rod-cone dystrophy, vision-related quality of life

وصف الملف: application/pdf

الاتاحة: https://researchers.mq.edu.au/en/publications/cf2912f3-090d-4fcb-afc7-731e4286f42b
https://doi.org/10.1111/aos.16634
https://research-management.mq.edu.au/ws/files/353844803/Acta_Ophthalmologica_2024_McGuinness_EQ_5D_5L_health_utility_scores_in_Australian_adults_with_inherited_retinal.pdf
http://www.scopus.com/inward/record.url?scp=85182486283&partnerID=8YFLogxK
http://purl.org/au-research/grants/nhmrc/GNT1116360

المؤلفون: Vlasta Hadalin, Maša Buscarino, Jana Sajovic, Andrej Meglič, Martina Jarc-Vidmar, Marko Hawlina, Marija Volk, Ana Fakin

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 4; Pages: 3840

مصطلحات موضوعية: RPGR, rod-cone dystrophy, cone dystrophy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24043840

الاتاحة: https://doi.org/10.3390/ijms24043840