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2017, Advances in experimental medicine and biology, ISBN 9783319639031, Volume 1016, ix, 178 pages
This book presents descriptive overviews of gene editing strategies across multiple species while also offering in-depth insight on complex cases of... 
Genetic engineering | Genome | Clustered Regularly Interspaced Short Palindromic Repeats | Precision Medicine | Life Sciences | Stem Cells | Human Genetics | Agriculture | Ophthalmology | Regenerative Medicine/Tissue Engineering
Book
01/2019, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085, 262
eBook
2013, Stem cell biology and regenerative medicine, ISBN 1461454921
Web Resource
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, p. vii
Journal Article
JAMA ophthalmology, ISSN 2168-6165, 04/2019, Volume 137, Issue 6, pp. 679 - 680
In this issue of JAMA Ophthalmology, Khateb et al1 fill a key knowledge gap by providing a comprehensive retrospective analysis of retinitis pigmentosa (RP)... 
CGMP | OPHTHALMOLOGY | BETA-SUBUNIT | Retina | Retinitis | Nyctalopia | Retinitis pigmentosa | Acuity | Phosphodiesterase | Index Medicus | Abridged Index Medicus
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 05/2019, Volume 9, Issue 1, pp. 7608 - 11
CAPN5 Neovascular Inflammatory Vitreoretinopathy (CAPN5-NIV; OMIM 193235) is a poorly-understood rare, progressive inflammatory intraocular disease with... 
DIABETIC-RETINOPATHY | PERSONALIZED PROTEOMICS | GLUTAMATE RECEPTORS | CALPAIN | VITREOUS FLUID | INFLAMMATION | MULTIDISCIPLINARY SCIENCES | SERUM-LEVELS | MECHANISMS | GROWTH-FACTOR | DEGENERATION | Diabetic retinopathy | Retinopathy | Ontology | Pathogenesis | Diabetes mellitus | Retina | Mass spectroscopy | Liquid chromatography | Macular degeneration | Proteins | Uveitis | Degeneration | Age | Immune system
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2018, Volume 195, pp. 16 - 25
To describe a distinct phenotypic outcome of outer retinal degeneration in a cohort of genetically confirmed patients with recessive Stargardt disease (STGD1).... 
ALPHA-SUBUNIT | OPTICAL COHERENCE TOMOGRAPHY | RECESSIVE RETINITIS-PIGMENTOSA | CHOROIDEREMIA CHM | OPHTHALMOLOGY | TERM-FOLLOW-UP | GENE ABCR | NATURAL-HISTORY | RETINAL-PIGMENT EPITHELIUM | OCCULT MACULAR DYSTROPHY | RP1L1 VARIANTS | Fluorescence | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Cells | Medical imaging | Mutation | Patients | Age
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2018, Volume 195, pp. 176 - 180
To determine rate of bone spicule pigmentation appearance in patients with retinitis pigmentosa (RP). Retrospective, observational case series. A total of 240... 
OPHTHALMOLOGY | Medical research | Care and treatment | Retinitis pigmentosa | Analysis | Medicine, Experimental | Medical records | Development and progression | Studies | Medical imaging | Genes | Photoreceptors | Retina | Mutation | Patients | Age
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2018, Volume 13, Issue 1, pp. 138 - 138
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2019, Volume 207, pp. 77 - 86
To characterize and bring awareness to the disease spectrum of female choroideremia patients, as severity can vary from mild to severe disease, comparable to... 
Journal Article
Nature Methods, ISSN 1548-7091, 05/2018, Volume 15, Issue 5, p. 394
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 04/2016, Volume 134, Issue 4, pp. 444 - 448
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 01/2019, Volume 60, Issue 1, pp. 282 - 293
PURPOSE. To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical course of three family members with Versican Vitreoretinopathy... 
Retinal detachment | Wagner disease | VCAN | Vitreous | MMP-2 | Extracellular matrix | Genetics | Gelatinase | Erosive vitreoretinopathy | MMP-9 | Versican | MATRIX | WAGNER-DISEASE | INVOLVEMENT | HYALURONAN | PROTEOGLYCAN | MMP9 | SUPRAMOLECULAR ORGANIZATION | wagner disease | FAMILY | erosive vitreoretinopathy | genetics | vitreous | OPHTHALMOLOGY | versican | gelatinase | retinal detachment | CSPG2 GENE | extracellular matrix | Index Medicus
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 06/2016, Volume 134, Issue 6, pp. 711 - 712
Journal Article
ISSN 1932-6203, 2018
Differences in regional protein expression within the human retina may explain molecular predisposition of specific regions to ophthalmic diseases like... 
Proteins | Stress (Physiology)--Health aspects | Proteomics | Retina--Diseases
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 312 - 316
Mutations in the gene SCAPER ( S ‐phase C yclinA A ssociated P rotein residing in the E ndoplasmic R eticulum) have recently been identified as causing... 
retinitis pigmentosa | syndromic disorder | SCAPER | autosomal recessive | PROTEIN | GENES | GENETICS & HEREDITY | MUTATIONS | Medical students | Retinitis pigmentosa | Attention deficit disorder | Intellectual disabilities | Hyperactivity | Attention deficit hyperactivity disorder | Retinitis | Mutation | Endoplasmic reticulum | Genetic screening
Journal Article
Nature Methods, ISSN 1548-7091, 05/2018, Volume 15, Issue 5, pp. 394 - 394
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