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American Journal of Ophthalmology, ISSN 0002-9394, 06/2019, Volume 202, pp. 23 - 29
Mutations in the photoreceptor gene lead to recessive or dominantly inherited retinitis pigmentosa (RP). Since the dominantly inherited phenotype is generally... 
OPHTHALMOLOGY | RETINITIS | PROTEIN | Medical research | Genes | Amino acids | Genetic screening | Proteins | Genetic counseling | Hospitals | Medical genetics | Genetic research | Medicine, Experimental | Genetic aspects | Nucleotide sequencing | Gene therapy | DNA sequencing | Medical imaging | Family medical history | Patients | Consultants | Custom design | Tomography | Photoreceptors | Genetic engineering | Mutation | Ophthalmology | Age
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 08/2019, Volume 103, Issue 8, pp. 1092 - 1098
BackgroundMacular Integrity Assessment (MAIA) microperimetry is increasingly used in clinical and research settings to assess point retinal sensitivity and... 
SENSITIVITY | OPHTHALMOLOGY | ROD | CHOROIDEREMIA | Cataracts | Photoreceptors | Retina | Ophthalmology | Topography
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 06/2019, Volume 97, Issue 4, pp. e589 - e600
Journal Article
Trends in Biotechnology, ISSN 0167-7799, 05/2018, Volume 36, Issue 5, pp. 477 - 480
3D models are emerging as valuable tools for personalised nanoparticle-based cancer treatments. 3D models represent in vivo cancers more realistically than 2D... 
nanoparticle | gene therapy | drug delivery | 3D cancer model | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Nanoparticles | Genetic Therapy | Humans | Neoplasms | Drugs | Medical colleges | Drug delivery systems | Analysis | Genes | Stem cells | Transplantation | Drug therapy | Cancer | Vehicles | Cell culture | Angiogenesis | Toxicology | Two dimensional models | Models | Gene therapy | Gene expression | Cancer therapies | Three dimensional models | Tumors
Journal Article
Journal of the American Chemical Society, ISSN 0002-7863, 09/2018, Volume 140, Issue 36, pp. 11408 - 11415
Reductive elimination (RE) is a critical step in many catalytic processes. The reductive elimination of unsaturated groups (aryl, vinyl and ethynyl) from... 
CARBON BOND FORMATION | CROSS-COUPLING REACTIONS | PD(III) | PLATINUM(II) | ISOMERIZATION | REACTIVITY | MECHANISMS | OXIDATIVE ADDITION | SELECTIVITY | CHEMISTRY, MULTIDISCIPLINARY | CATALYSTS
Journal Article
Eye (London, England), ISSN 0950-222X, 08/2019, Volume 33, Issue 8, pp. 1215 - 1223
The first gene therapy for an inherited retinal dystrophy recently received market approval in the United States; multiple other gene therapies are in the... 
OPHTHALMOLOGY | Young adults | Advisors | Clinical trials | Medical education | Retinal degeneration | Retina | Accreditation | Dystrophy | Gene therapy | Patients | Quality of life | Acuity
Journal Article
Genes, ISSN 2073-4425, 09/2019, Volume 10, Issue 9, p. 674
Mutations affecting the ( ) gene are the commonest cause of X-linked and recessive retinitis pigmentosa (RP), accounting for 10%-20% of all cases of RP. The... 
gene therapy | Retinitis Pigmentosa GTPase Regulator | adeno-associated viral | Retinitis Pigmentosa (RP)
Journal Article
FRONTIERS IN PHARMACOLOGY, ISSN 1663-9812, 09/2019, Volume 10
Multiple gene therapy trials are occurring for a variety of ophthalmic diseases around the world. The safety of gene therapy in the eye has been established,... 
clinical trial | outcome measure | ADENOASSOCIATED VIRUS | SAFETY | gene therapy | MACULAR DEGENERATION | RPE65 MUTATIONS | OPEN-LABEL | retinal imaging | vision | LEBER CONGENITAL AMAUROSIS | SUBRETINAL INJECTION | genetic eye disease | PHARMACOLOGY & PHARMACY | 3-YEAR FOLLOW-UP | INITIAL FINDINGS | visual function
Journal Article
Genes, ISSN 2073-4425, 09/2019, Volume 10, Issue 10, p. 738
Advances in molecular research have culminated in the development of novel gene-based therapies for inherited retinal diseases. We have recently witnessed... 
treatment | gene therapy | REP1 | choroideremia | inherited retinal disease
Journal Article
Yale Journal of Biology and Medicine, ISSN 0044-0086, 12/2017, Volume 90, Issue 4, pp. 611 - 623
The use of adeno-associated viral (AAV) vectors for gene therapy treatments of inherited disorders has accelerated over the past decade with multiple clinical... 
Dual vector | Large transgenes | Gene therapy | AAV
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 07/2018, Volume 136, Issue 7, p. 761
Importance Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. Objective To report olfactory function and the... 
Neuroimaging | Retinitis pigmentosa | Anosmia | Retina | Nyctalopia | Genetic screening | Neurodegeneration | Coding | Sensory evaluation | Sensory neurons | Olfactory receptor neurons | Ophthalmology | Age | Phenotypes | EEG | Magnetic resonance imaging | Blindness | Phenotyping | Olfaction | Photoreceptors | Olfactory bulb | Retinitis | Dystrophy | Mutation | Odor
Journal Article
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10045, pp. 635 - 636
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(16)30783-8 Byline: Robert E MacLaren Author Affiliation:... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | LEBERS CONGENITAL AMAUROSIS | DELIVERY | Genetic Therapy | Genetic Vectors | Visual Acuity | Humans | Genetic research | Gene therapy | Retina | Genomes | Congenital diseases | Blindness
Journal Article
BMJ Case Reports, ISSN 1757-790X, 05/2019, Volume 12, Issue 5, p. e224451
Retinitis pigmentosa (RP) relates to a heterogeneous group of rod-cone dystrophies of varying genetic aetiology. There is currently great interest in gene... 
Atrophy | Proteins | Diabetic retinopathy | Genes | Tomography | Photoreceptors | Optics | Retina | Family medical history | Mutation | Bioinformatics | Age
Journal Article
Journal Article
Lancet, The, ISSN 0140-6736, 2015, Volume 386, Issue 10011, pp. 2369 - 2370
Journal Article