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JAMA Ophthalmology, ISSN 2168-6165, 08/2019
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 01/2019, Volume 137, Issue 1, pp. 109 - 110
A woman in her 70s and of Korean descent reported difficulty seeing in dimly lit settings for the past 6 years and was referred for evaluation. Her medical... 
OPHTHALMOLOGY | HYDROXYCHLOROQUINE RETINOPATHY | Women | Hypertension | Connective tissue diseases | Diabetes mellitus | Retina | Nyctalopia | Epithelium | Retinal pigment epithelium | Eye | Older people | Blindness | Diabetes | Ophthalmology | Mixed connective tissue disease | Geriatrics
Journal Article
Journal Article
American Journal of Health-System Pharmacy, ISSN 1079-2082, 09/2017, Volume 74, Issue 18, pp. 1422 - 1435
PurposePharmacists’ involvement in a population health initiative focused on chronic disease management is described.SummaryGeisinger Health System has... 
Drugs | Anticoagulants | Therapy | Warfarin | Multiple sclerosis | Health | Innovations | Emergency management | Pharmacology | Management | Patients | Disease control | Sclerosis | Fibrillation | Population | Pharmacists | Drug therapy | Drug stores | Emergency medical services | Ambulatory care
Journal Article
International Ophthalmology, ISSN 0165-5701, 1/2019, Volume 39, Issue 1, pp. 63 - 67
To assess whether mutations in Mer tyrosine kinase (MERTK) are associated with age-related macular degeneration (AMD).An association study using whole-genome... 
Retina | Genetics | Ophthalmology | Medicine & Public Health | Age-related macular degeneration | OPHTHALMOLOGY | VARIANTS | GENE | Macular degeneration | Tyrosine | Medical colleges | Genomics | Resveratrol | Genetic research | Physiological aspects | Genetic aspects | Nucleotide sequencing | DNA sequencing | Annotations | Gene frequency | Genomes | Degeneration | Mutation | Protein-tyrosine kinase | Age | Gene sequencing | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0160504 - e0160504
Background White blood cells have been shown in animal studies to play a central role in the pathogenesis of diabetic retinopathy. Lymphoblastoid cells are... 
EARLY DIABETIC-RETINOPATHY | PHARMACOGENOMIC DISCOVERY | TWINS DISCORDANT | POLYMORPHONUCLEAR LEUKOCYTES | RETINAL ENDOTHELIAL-CELLS | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION VARIATION | NECROSIS-FACTOR-ALPHA | HISTONE MODIFICATIONS | GENOME-WIDE ASSOCIATION | SKIN FIBROBLASTS | Reactive Oxygen Species - metabolism | Humans | Diabetic Retinopathy - pathology | Interleukin-1beta - genetics | NF-kappa B p50 Subunit - genetics | RNA, Messenger - metabolism | Transcription Factor RelA - genetics | Interleukin-1beta - metabolism | B-Lymphocytes - metabolism | Leukocytes - cytology | Cell Line | B-Lymphocytes - cytology | NF-kappa B p50 Subunit - metabolism | CD18 Antigens - genetics | Endothelial Cells - metabolism | Glucose - pharmacology | Cell Adhesion - drug effects | Diabetic Retinopathy - metabolism | CD18 Antigens - metabolism | Up-Regulation - drug effects | B-Lymphocytes - drug effects | Transcription Factor RelA - metabolism | Endothelial Cells - cytology | Leukocytes - drug effects | Leukocytes - metabolism | Treatment outcome | Diabetic retinopathy | Development and progression | Research | Gene expression | Risk factors | Biotechnology | Reactive oxygen species | Protein kinase C | Transcription factors | Retinopathy | Laboratories | Pathogenesis | Genomics | Adhesion tests | Erythrocytes | Biochemistry | Leukocytes | Glucose | Blood | Protein folding | Interleukin 1 | NF-κB protein | Oxygen | Review boards | Complications | Therapeutic applications | Diabetes mellitus | Blood cells | Lymphoblastoid cell lines | Pharmacology | Adhesion | Endothelial cells | Beta cells | White blood cells | Lymphocytes B | CD18 antigen | Diabetes | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 617 - 627
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 2016, Volume 10, Issue 3, pp. 211 - 213
To report a case of Batten disease due to a previously unreported mutation in PPT1. A 9-year-old girl presented with classic clinical findings of Batten... 
PPT1 | CLN3 | juvenile neuronal ceroid lipofuscinosis | Batten disease | Genetic Predisposition to Disease | Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Proteins - genetics | Humans | Female | Mutation | Child | Index Medicus
Journal Article
Blood, ISSN 0006-4971, 06/2019, p. blood.2019000782
To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing (WGS) data from 13,037... 
Journal Article