المؤلفون: Lin, Andrew C, Park, Soo J, Daniels, Gregory A, Borooah, Shyamanga

مصطلحات موضوعية: Immunology, Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Autoimmune Disease, Neurosciences, Clinical Research, Eye, Autoimmune retinopathy, Immune checkpoint inhibitor therapy, Ipilimumab, Nivolumab, Pigmentary retinopathy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3179z5cx

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

المؤلفون: Chwiejczak, Katarzyna, Byles, Daniel, Gerry, Paul, Von Lany, Hirut, Tasiopoulou, Anastasia, Hattersley, Andrew

المصدر: GMS Ophthalmology Cases, Vol 13, p Doc23 (2023)

مصطلحات موضوعية: maternally inherited diabetes and deafness, noninsulin-dependent diabetes mellitus with deafness, pigmentary retinopathy, mitochondrial disease, oct, oct-angiography, multimodal imaging, fundus autofluorescence, retinal ganglion cell layer, diabetes mellitus, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.egms.de/static/en/journals/oc/2023-13/oc000231.shtml; https://doaj.org/toc/2193-1496

URL الوصول: https://doaj.org/article/25cf8d0c650f451c9c211956646e45a3

المؤلفون: Jan Lestak, Jiri Chod, Jozef Rosina, Karel Hana

المصدر: Biomedical Papers, Vol 166, Iss 3, Pp 251-257 (2022)

مصطلحات موضوعية: functional magnetic resonance imaging, electrophysiological methods, pigmentary retinopathy, age-related macular degeneration, visual neuroprosthesis, Medicine

وصف الملف: electronic resource

Relation: https://biomed.papers.upol.cz/artkey/bio-202203-0002_visual-neuroprosthesis-present-and-future-perspectives.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521

URL الوصول: https://doaj.org/article/8e2314f0410a4190a79c64fbc6ce35ef

المؤلفون: Andrew C. Lin, Soo J. Park, Gregory A. Daniels, Shyamanga Borooah

المصدر: American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101849- (2023)

مصطلحات موضوعية: Pigmentary retinopathy, Immune checkpoint inhibitor therapy, Autoimmune retinopathy, Nivolumab, Ipilimumab, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993623000579; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/315534fdfff04fa2bd1b8ec36239b3ff

المؤلفون: Neelam Pawar, George J Manayath, Shishir Verghese, Prithvi Chandrakanth, Virna Shah, Ashwini Raut, Swarna Gaikwad, Parth A Patil, Mansha Daswani, R Meenakshi, Kalpana Narendran, Venkatapathy Narendran

المصدر: Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2605-2609 (2022)

مصطلحات موضوعية: hallervorden spatz syndrome, kearns sayre syndrome, pigmentary retinopathy, senior loken syndrome, spino-cerebellar ataxia type 7, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2605;epage=2609;aulast=Pawar; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/3380107e80f14863b4108bd0ab915ba7

المؤلفون: A. A. Panov, A. A. Petukhova, Ya. V. Malygin, B. D. Tsygankov, M. A. Kazanfarova

المصدر: Российский офтальмологический журнал, Vol 14, Iss 4, Pp 172-178 (2022)

مصطلحات موضوعية: antipsychotics, typical antipsychotics, atypical antipsychotics, chlorpromazine, keratopathy, cornea verticillata, cataract, pigmentary retinopathy, maculopathy, retinopathy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://roj.igb.ru/jour/article/view/804; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760

URL الوصول: https://doaj.org/article/187797e12f954f4eb015d352a9c03653

المؤلفون: Leung EH, Sharma S, Levie-Sprick A, Lee GD, Cho H, Mukkamala SK

المصدر: Clinical Ophthalmology, Vol Volume 15, Pp 4809-4816 (2021)

مصطلحات موضوعية: pentosan polysulfate sodium, pigmentary retinopathy, pharmacotoxicity, inherited retinal dystrophies, genetics, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.dovepress.com/pentosan-polysulfate-sodium-associated-pigmentary-retinopathy-risk-fac-peer-reviewed-fulltext-article-OPTH; https://doaj.org/toc/1177-5483

URL الوصول: https://doaj.org/article/89bd42a6671e490da81e806e9cab4cd2

المؤلفون: Jane H Lock, Neha K Irani, Nancy J Newman

المصدر: Taiwan Journal of Ophthalmology, Vol 11, Iss 1, Pp 39-52 (2021)

مصطلحات موضوعية: dominant optic atrophy, leber hereditary optic neuropathy, macular pattern dystrophy, mitochondrial disease, pigmentary retinopathy, progressive external ophthalmoplegia, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.e-tjo.org/article.asp?issn=2211-5056;year=2021;volume=11;issue=1;spage=39;epage=52;aulast=Lock; https://doaj.org/toc/2211-5056; https://doaj.org/toc/2211-5072

URL الوصول: https://doaj.org/article/7c87912185584f708c3b10952284893a

المؤلفون: Christopher S. Langlo, Alana Trotter, Honey V. Reddi, Kala F. Schilter, Rebecca C. Tyler, Rupa Udani, Maureen Neitz, Joseph Carroll, Thomas B. Connor

المصدر: American Journal of Ophthalmology Case Reports, Vol 25, Iss , Pp 101241- (2022)

مصطلحات موضوعية: Adaptive optics scanning light ophthalmoscopy, Rubella retinopathy, Pigmentary retinopathy, Cone photoreceptors, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993621002504; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/54ea1c402b6c4b9a831d7e9982294748

المؤلفون: K Ezhil Vendhan, S Harshitha, Arun Kumar, Aprajitha Gautam, R Rajesh Kannan

المصدر: Journal of Clinical and Diagnostic Research, Vol 16, Iss 2, Pp ND01-ND03 (2022)

مصطلحات موضوعية: pigmentary retinopathy, phenotype, sensorineural deafness, Medicine

وصف الملف: electronic resource

Relation: https://www.jcdr.net/articles/PDF/15954/52947_CE[Ra1]_F(KR)_PF1(SC_SS)_PFA(SC_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

URL الوصول: https://doaj.org/article/ab129fb29c894ba9bca3d510f526e5ef

المؤلفون: Darakhshanda Khurram, Syed M. Ali, Quan Dong Nguyen, Igor Kozak

المصدر: American Journal of Ophthalmology Case Reports, Vol 23, Iss , Pp 101121- (2021)

مصطلحات موضوعية: Torpedo maculopathy, Pigmentary retinopathy, Congenital ocular toxoplasmosis, Retinopathy of prematurity, Microphthalmia, Congenital cataract, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993621001304; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/e028ebea6053405a9183df763b499c07

المؤلفون: Kousal, B, Majer, F, Vlaskova, H, Dvorakova, L, Piherova, L, Meliska, M, Langrova, H, Palecek, T, Kubanek, M, Krebsova, A, Gurka, J, Stara, V, Michaelides, M, Kalina, T, Sikora, J, Liskova, P

المصدر: Acta Ophthalmologica , 99 (1) pp. 61-68. (2021)

مصطلحات موضوعية: LAMP2, Danon disease, autofluorescence, pigmentary retinopathy, somatic mosaicism, spectral-domain optical coherence tomography

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10102608/3/Michaelides_danon_rev02-actaPL_JS_MM_accepted.pdf; https://discovery.ucl.ac.uk/id/eprint/10102608/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10102608/3/Michaelides_danon_rev02-actaPL_JS_MM_accepted.pdf
https://discovery.ucl.ac.uk/id/eprint/10102608/

المؤلفون: Izabella Karska-Basta, Bożena Romanowska-Dixon, Dorota Pojda-Wilczek, Natalia Mackiewicz

المصدر: Medicina; Volume 57; Issue 9; Pages: 892

مصطلحات موضوعية: ocular toxoplasmosis, retinitis pigmentosa, unilateral pigmentary retinopathy, unilateral retinitis pigmentosa

وصف الملف: application/pdf

Relation: Ophthalmology; https://dx.doi.org/10.3390/medicina57090892

الاتاحة: https://doi.org/10.3390/medicina57090892

المؤلفون: Adrian Dockery, Kit Green Sanderson, David J Keegan, Kirk Stephenson

المصدر: BMJ case reports. 14(11)

مصطلحات موضوعية: medicine.medical_specialty, Retina, Visual acuity, genetic structures, Compressive optic neuropathy, business.industry, Pigmentary Retinopathy, General Medicine, eye diseases, medicine.anatomical_structure, Chronic angle-closure glaucoma, Ophthalmology, medicine, Retinal pigmentation, Humans, sense organs, medicine.symptom, business, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35e996b2ac249c9ae0368e4cfd8fd616
https://pubmed.ncbi.nlm.nih.gov/34725069

المؤلفون: Immonen, Tuuli, Ahola, Emilia, Toppila, Jussi, Lapatto, Risto, Tyni, Tiina, Lauronen, Leena

المساهمون: Clinicum, Children's Hospital, Department of Diagnostics and Therapeutics, Kliinisen neurofysiologian yksikkö, University of Helsinki, HUS Children and Adolescents

مصطلحات موضوعية: Fatty acid oxidation disorders, Inborn errors of metabolism, Mitochondrial fatty acid beta-oxidation, Polyneuropathy, MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, FATTY-ACID OXIDATION, OPTIMAL DIETARY THERAPY, PIGMENTARY RETINOPATHY, CLINICAL PRESENTATION, DEFECTS, Neurology and psychiatry, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work has been supported by 1) Lea and Arvo Ylppo Foundation. 2) The Academy of Finland. 3) Jane and Aatos Erkko Foundation. 4) Marta Donner foundation.; Immonen , T , Ahola , E , Toppila , J , Lapatto , R , Tyni , T & Lauronen , L 2016 , ' Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients ' , European Journal of Paediatric Neurology , vol. 20 , no. 1 , pp. 38-44 . https://doi.org/10.1016/j.ejpn.2015.10.009; http://hdl.handle.net/10138/312511; 21cde20f-8ef1-4e6c-94b7-d0213628a2f9; 84951907692; 000368569100006

الاتاحة: http://hdl.handle.net/10138/312511

المؤلفون: Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, June-Gone Kim, Joo Yong Lee

المصدر: Genes; Volume 11; Issue 11; Pages: 1356

مصطلحات موضوعية: Danon disease, Asian, pigmentary retinopathy, peripheral retinopathy, inherited retinal disorder

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11111356

الاتاحة: https://doi.org/10.3390/genes11111356

المؤلفون: B Pramila, M Bharathi Mohan, K Kavitha

المصدر: TNOA Journal of Ophthalmic Science and Research, Vol 56, Iss 4, Pp 254-256 (2018)

مصطلحات موضوعية: classical triad, cochlear implant, congenital heart disease, congenital rubella syndrome, pigmentary retinopathy, salt-and-pepper fundus, sensorineural deafness, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.tnoajosr.com/article.asp?issn=2589-4528;year=2018;volume=56;issue=4;spage=254;epage=256;aulast=Pramila; https://doaj.org/toc/2589-4528; https://doaj.org/toc/2589-4536

URL الوصول: https://doaj.org/article/a2cb7eb3290344b29a8b498f7c70da7b

المؤلفون: Kilicarslan, Oguzhan, Batu Oto, Bilge, Yetik, Hueseyin, Agirbasli, Deniz, Kalayci Yigin, Aysel, celik, Goekhan

مصطلحات موضوعية: Retina, pigmentary retinopathy, mitochondrial myopathy, foveal atrophy, MFF mutation, Mitochondrial Diseases, Retinal Manifestations, Children

Relation: Ophthalmic Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1080/13816810.2023.2189945; https://hdl.handle.net/20.500.12831/11928; WOS:000951323900001; 2-s2.0-85150918109

الاتاحة: https://doi.org/10.1080/13816810.2023.2189945
https://hdl.handle.net/20.500.12831/11928

المؤلفون: Ella H, Leung, Sahana, Sharma, Ana, Levie-Sprick, Gregory D, Lee, Hyung, Cho, Krishna, Mukkamala

المصدر: Clinical Ophthalmology (Auckland, N.Z.)

مصطلحات موضوعية: Ophthalmology, education, inherited retinal dystrophies, Clinical Ophthalmology, pigmentary retinopathy, genetics, pharmacotoxicity, health care economics and organizations, Original Research, pentosan polysulfate sodium

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be587edee2a8a44d9bfc49e63915f07a
http://europepmc.org/articles/PMC8714003