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Ophthalmology, ISSN 0161-6420, 2017, Volume 124, pp. 884 - 895
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN:... 
Journal Article
BMC Genomics, ISSN 1471-2164, 2015, Volume 16
Background: Alzheimer's disease (AD) is the most common form of dementia. AD has a multifactorial disease etiology and is currently untreatable. Multiple genes... 
Journal Article
PLoS One, ISSN 1932-6203, 2015, Volume 10, Issue 10
Background The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular degeneration (AMD). AMD is the leading... 
Journal Article
PLoS One, ISSN 1932-6203, 2012, Volume 7
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 2011, Volume 52, pp. 8356 - 8362
Journal Article
Ophthalmology, ISSN 0161-6420, 2010, Volume 117, pp. 1415 - 1422
PURPOSE: To describe the disease course in patients with vitelliform macular dystrophy (VMD) with a Best1 mutation and to determine the association between... 
Journal Article
Journal of Molecular Medicine, ISSN 0946-2716, 2010, Volume 88, pp. 467 - 475
Journal Article
Journal of Molecular Medicine, ISSN 0946-2716, 2010, Volume 88, Issue 5, pp. 467 - 475
Pseudoxanthoma elasticum (PXE) is a heritable disorder characterized by ectopic calcification of connective tissue in skin, Bruch's membrane of the eye, and... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2009, Volume 116, pp. 472 - 474
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 1998, Volume 7, Issue 7, pp. 1185 - 1192
X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in... 
LOCALIZATION | RS | YAC CONTIG | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 2000, Volume 84, pp. 682 - 686
Journal Article
Stem Cell Reviews and Reports, ISSN 1550-8943, 2017, Volume 13, Issue 5, pp. 659 - 669
In age-related macular degeneration (AMD) the retinal pigment epithelium (RPE) deteriorates, leading to photoreceptor decay and severe vision loss. New... 
Life Sciences | Stem Cells | Biomedical Engineering | Human embryonic stem cells | Cell replacement therapy | Regenerative Medicine/Tissue Engineering | Transcriptomics | Age related macular degeneration | Pigmentation | Retinal pigment epithelium | Cell Biology | MEDICINE, RESEARCH & EXPERIMENTAL | PHAGOCYTOSIS | INTEGRIN-LINKED KINASE | MELATONIN | PROTECTS | CELL & TISSUE ENGINEERING | CELL BIOLOGY | THERAPY | JUNCTIONS | RPE CELLS | DIFFERENTIATION | AGE | Biomarkers - metabolism | Cell Line | Cell Polarity | Human Embryonic Stem Cells - metabolism | Retinal Pigment Epithelium - metabolism | Gene Expression | Pluripotent Stem Cells - cytology | Signal Transduction | Tissue Array Analysis | Human Embryonic Stem Cells - cytology | Humans | Gene Expression Profiling | Transcription Factors - genetics | Cell Adhesion | Pluripotent Stem Cells - metabolism | Transcription Factors - metabolism | Pigmentation - genetics | Cell Differentiation | Retinal Pigment Epithelium - cytology | Macular degeneration | Analysis | Genes | Stem cells | Genetic research | Transplantation | Epithelium | Gene expression | Embryonic stem cells | Oxidative stress | Maturation | Epithelial cells | Visual observation | Retina | DNA microarrays | Pathways | Developmental stages | Polarity | Differentiation | In vitro methods and tests | Pluripotency | Age
Journal Article
PLoS One, ISSN 1932-6203, 2010, Volume 5
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2000, Volume 67, Issue 2, pp. 487 - 491
Age-related macular degeneration (AMD) accounts for >50% of the registered visual disability among North American and Western European populations and has been... 
GEL-ELECTROPHORESIS | MACULOPATHY | SYSTEM | DNA | GENETICS & HEREDITY | MUTATIONS | CASSETTE TRANSPORTER GENE | STARGARDT-DISEASE | Retinal degeneration | Chromosome mapping | Genetic aspects | Disease susceptibility | Research | Report
Journal Article
Ophthalmology, ISSN 0161-6420, 2010, Volume 117, pp. 1415 - 1422
Journal Article
Journal Article
PLoS One, ISSN 1932-6203, 2010, Volume 5, Issue 11
Background: Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the developed countries and is caused by both... 
Journal Article
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