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المؤلفون: Byron L. Lam, William J. Feuer, Janet L. Davis, Vittorio Porciatti, Hong Yu, Robert B. Levy, Elizabeth Vanner, John Guy
المصدر: American Journal of Ophthalmology. 241:262-271
مصطلحات موضوعية: Retinal Ganglion Cells, Genetic Vectors, Vision Disorders, Visual Acuity, NADH Dehydrogenase, Genetic Therapy, Optic Atrophy, Hereditary, Leber, Dependovirus, DNA, Mitochondrial, Ophthalmology, Electroretinography, Humans, Prospective Studies, Visual Fields, Tomography, Optical Coherence
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المؤلفون: Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, Austin D. Igelman
المصدر: Ophthalmic genetics, vol 42, iss 6
Ophthalmic Genetمصطلحات موضوعية: Male, Pathology, Usher syndrome, Visual Acuity, Cell Cycle Proteins, Retinal Pigment Epithelium, Sensorineural, Neurodegenerative, Eye, Ophthalmology & Optometry, Autoantigens, Multimodal Imaging, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Frameshift Mutation, Tomography, Genetics (clinical), Arylsulfatases, Pediatric, 0303 health sciences, Middle Aged, 3. Good health, medicine.anatomical_structure, Phenotype, Codon, Nonsense, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, ARSG, Adult, medicine.medical_specialty, ABHD12, cep250, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Article, Pallor, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, Opthalmology and Optometry, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Genetics, Humans, CEP78, Genetic Testing, Hearing Loss, Codon, Eye Disease and Disorders of Vision, 030304 developmental biology, Retrospective Studies, Aged, Retinal pigment epithelium, business.industry, Neurosciences, Dystrophy, Retinal, medicine.disease, Monoacylglycerol Lipases, Ophthalmology, Orphan Drug, chemistry, Nonsense, Optical Coherence, Atypical usher syndrome, Pediatrics, Perinatology and Child Health, sense organs, business, 030217 neurology & neurosurgery, Cone-Rod Dystrophies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8960670d9c0f98cf50a87a64f9ffe5
https://escholarship.org/uc/item/0vc5m5k3 -
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المؤلفون: Rachel M. Huckfeldt, Cecinio C. Ronquillo, Jin Kyun Oh, Wadih M. Zein, Michael B. Gorin, Nan-Kai Wang, Alessandro Iannaccone, Cristy A. Ku, Byron L. Lam, Mark E. Pennesi, Paul S. Bernstein, John P. Kelly, Robert K. Koenekoop, Jeeyun Ahn, Jia Yue You, Robert B. Hufnagel, Emily Place, Aaron Nagiel, Paul Yang, Austin D. Igelman, Xinxin Zhang, Mariana Matioli da Palma, David G. Birch, Amanda Burr, Michelle T. Cabrera, Kari Branham, Abigail T. Fahim, Benjamin Bakall
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, JAG1, Visual acuity, genetic structures, Optic Disk, Visual Acuity, jaundice, Medical Records, Retina, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, Alagille syndrome, medicine, Genetics, Humans, Genetic Testing, Fluorescein Angiography, business.industry, Medical record, Optical Imaging, Eye Diseases, Hereditary, Jaundice, medicine.disease, eye diseases, retinal dystrophies, 030104 developmental biology, medicine.anatomical_structure, Cohort, Mutation, 030221 ophthalmology & optometry, Visual Field Tests, Female, sense organs, medicine.symptom, business, cholestasis, Retinal Dystrophies, Jagged-1 Protein, Tomography, Optical Coherence, Optic disc
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcae4fb9656764812418779807292ebb
http://europepmc.org/articles/PMC8254011 -
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المؤلفون: Frank G. Holz, Carel B. Hoyng, Kimberly E. Stepien, Eeva-Marja Sankila, Ian M. MacDonald, Neil M. Bressler, Byron L. Lam, M. Dominik Fischer, Aniz Girach, Mark E. Pennesi, Graeme C.M. Black, Robert E MacLaren, Michael B. Gorin, Amir H Hariri, David G. Birch, Srinivas R. Sadda, Michael Larsen, Michael S. Ip, Stephen H. Tsang, Andrew R. Webster, Isabelle Meunier
المصدر: Hariri, A H, Ip, M S, Girach, A, Lam, B L, Fischer, M D, Sankila, E-M, Pennesi, M E, Holz, F G, Maclaren, R E, Birch, D G, Hoyng, C B, MacDonald, I M, Black, G C, Tsang, S H, Bressler, N M, Stepien, K E, Larsen, M, Gorin, M B, Meunier, I, Webster, A R, Sadda, S & For Natural History of the Progression of Choroideremia (NIGHT) Study Group 2019, ' Macular spatial distribution of preserved autofluorescence in patients with choroideremia ', British Journal of Ophthalmology, vol. 103, no. 7, pp. 933-937 . https://doi.org/10.1136/bjophthalmol-2018-312620
Br J Ophthalmol
British Journal of Ophthalmology, 103, 7, pp. 933-937
British Journal of Ophthalmology, 103, 933-937مصطلحات موضوعية: Fovea Centralis, medicine.medical_specialty, genetic structures, Fundus Oculi, Visual Acuity, Retinal Pigment Epithelium, Multimodal Imaging, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Choroideremia, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Retinitis pigmentosa, medicine, Humans, In patient, Fluorescein Angiography, medicine.diagnostic_test, business.industry, Significant difference, medicine.disease, Sensory Systems, Fundus autofluorescence, eye diseases, Autofluorescence, nervous system, 030221 ophthalmology & optometry, sense organs, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: William W. Hauswirth, Erica N. Woertz, Christine N. Kay, Katie M. Litts, Mark E. Pennesi, Michel Michaelides, Michalis Georgiou, Gerald A. Fishman, Byron L. Lam, Joseph Carroll, Emily J Patterson
المصدر: Translational Vision Science & Technology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual acuity, Achromatopsia, genetic structures, Image quality, Biomedical Engineering, Visual Acuity, Color Vision Defects, Article, adaptive optics, Ophthalmoscopy, 03 medical and health sciences, 0302 clinical medicine, Optical coherence tomography, Ophthalmology, Medical imaging, Medicine, Humans, Adaptive optics, Artifact (error), optical coherence tomography, medicine.diagnostic_test, business.industry, medicine.disease, eye diseases, 030104 developmental biology, inherited retinal disease, 030221 ophthalmology & optometry, sense organs, medicine.symptom, achromatopsia, business, Artifacts, Tomography, Optical Coherence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a79e58ba086c8e74627c2fe580ad26
http://europepmc.org/articles/PMC7804582 -
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المؤلفون: Jayanth Sridhar, Anne L. Kunkler, Byron L. Lam
المصدر: Ophthalmology. 128(7)
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Fundus Oculi, MEK inhibitor, MAP Kinase Kinase 1, Middle Aged, medicine.disease, Ophthalmology, Craniopharyngioma, Text mining, Oct angiography, Piperidines, Retinal Diseases, Vemurafenib, Medicine, Azetidines, Humans, Female, Pituitary Neoplasms, Fluorescein Angiography, business, Protein Kinase Inhibitors, Tomography, Optical Coherence, Retinopathy
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7REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
المؤلفون: Maria Parker, William W. Hauswirth, Moataz M Razeen, Phyllis Summerfelt, Christine N. Kay, Joseph Carroll, Jeffrey D. Chulay, Laura R Erker, Alfredo Dubra, Brian P. Higgins, Paul Yang, Gerald A. Fishman, Byron L. Lam, David J. Wilson, Jing Zhang, Mark E. Pennesi, Frederick T Collison, Christopher S Langlo, Richard G. Weleber, Emily J. Patterson
المصدر: Retina (Philadelphia, Pa.)
مصطلحات موضوعية: 0301 basic medicine, Male, Fovea Centralis, Achromatopsia, Visual acuity, genetic structures, DNA Mutational Analysis, Visual Acuity, Color Vision Defects, 0302 clinical medicine, Foveal, cone photoreceptor, Medicine, Original Study, Longitudinal Studies, Child, medicine.diagnostic_test, imaging, General Medicine, gene therapy, medicine.anatomical_structure, Retinal Cone Photoreceptor Cells, Female, medicine.symptom, achromatopsia, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Color vision, Cyclic Nucleotide-Gated Cation Channels, adaptive optics, Ophthalmoscopy, 03 medical and health sciences, Young Adult, Optical coherence tomography, Ophthalmology, Electroretinography, Humans, Outer nuclear layer, business.industry, DNA, medicine.disease, eye diseases, 030104 developmental biology, color vision, Mutation, 030221 ophthalmology & optometry, retinal degeneration, sense organs, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af235d238ffbf6579dc1d386b5fa53fd
http://europepmc.org/articles/PMC5537050 -
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المؤلفون: Stephen G. Schwartz, Byron L. Lam, Joshua Pasol, Harry W. Flynn
المصدر: Ophthalmic Surgery, Lasers and Imaging Retina. 47:768-772
مصطلحات موضوعية: Male, Retinal Ganglion Cells, Retinal degeneration, medicine.medical_specialty, Adolescent, genetic structures, Nerve fiber layer, Spectral domain, Documentation, 03 medical and health sciences, chemistry.chemical_compound, Nerve Fibers, 0302 clinical medicine, Optics, Optical coherence tomography, Ophthalmology, medicine, Humans, Aged, Retina, medicine.diagnostic_test, business.industry, Retinal Degeneration, Retinal, medicine.disease, eye diseases, Ganglion, medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, Female, sense organs, Visual field loss, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery
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المؤلفون: Giovanni Staurenghi, Carlos Alexandre de Amorim Garcia Filho, Renata Portella Nunes, Giovanni Gregori, Raquel Goldhardt, Andrea Giani, William J. Feuer, Benjamin J. Thomas, Philip J. Rosenfeld, Potyra R. Rosa, Byron L. Lam
المصدر: Ophthalmic Surgery, Lasers and Imaging Retina. 46:814-822
مصطلحات موضوعية: Adult, medicine.medical_specialty, genetic structures, DNA Mutational Analysis, Retinal Drusen, Polymerase Chain Reaction, Macular Degeneration, Young Adult, Geographic Atrophy, Ophthalmology, Age related, medicine, Humans, Stargardt Disease, Prospective Studies, Fluorescein Angiography, Prospective cohort study, Aged, Aged, 80 and over, medicine.diagnostic_test, Choroid, business.industry, Significant difference, Organ Size, Middle Aged, Macular degeneration, medicine.disease, Fluorescein angiography, eye diseases, Stargardt disease, Geographic atrophy, medicine.anatomical_structure, Optometry, ATP-Binding Cassette Transporters, sense organs, business, Tomography, Optical Coherence
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المؤلفون: Byron L. Lam, Giovana Rosa Gameiro, Anny D Rodriguez, Tatjana Rundek, Barry S. Baumel, Clinton B. Wright, Yantao Wei, Chuanhui Dong, Yi Shao, Hong Jiang, Ce Shi, Xiaoyan Sun, Yingying Shi, Elizabeth A. Vanner, Jianhua Wang
المصدر: Journal of Alzheimer's disease : JAD. 64(4)
مصطلحات موضوعية: Male, Retinal Ganglion Cells, medicine.medical_specialty, genetic structures, Nerve fiber layer, Outer plexiform layer, Retina, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Nerve Fibers, Alzheimer Disease, Ophthalmology, medicine, Humans, Cognitive Dysfunction, Outer nuclear layer, Aged, Aged, 80 and over, business.industry, General Neuroscience, Retinal, General Medicine, Middle Aged, Inner plexiform layer, eye diseases, Ganglion, Psychiatry and Mental health, Clinical Psychology, medicine.anatomical_structure, chemistry, Inner nuclear layer, 030221 ophthalmology & optometry, Female, sense organs, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Tomography, Optical Coherence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b27164ac21d5d299acfaacd979b373a
https://pubmed.ncbi.nlm.nih.gov/30040712