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Ophthalmic Genetics, ISSN 1381-6810, 11/2018, Volume 39, Issue 6, pp. 699 - 705
Background: The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been... 
AMD | STGD | CFHY402H polymorphism | SYSTEM | ARMS2 | ACTIVATION | ISCEV STANDARD | GENE POLYMORPHISMS | VARIANT | CHRONIC INFLAMMATORY REACTION | PATHOGENESIS | COMPLEMENT FACTOR-H | GENETICS & HEREDITY | OPHTHALMOLOGY | ASSOCIATION | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 43 - 47
Journal Article
Nature Genetics, ISSN 1061-4036, 03/1997, Volume 15, Issue 3, pp. 236 - 246
Journal Article
Gene, ISSN 0378-1119, 08/2015, Volume 567, Issue 1, pp. 51 - 57
Objective: The aim of this study was to identify the relationship between G1961E and D2177N variants in the ABCA4 gene with AMD susceptibility. Design and... 
Age-related macular degeneration | ABCA4 | Polymorphism | MACULOPATHY | LIPOFUSCIN | FUNDUS AUTOFLUORESCENCE | SUSCEPTIBILITY | CASSETTE TRANSPORTER ABCA4 | STARGARDT DISEASE GENE | ALLELIC VARIATION | GENETICS & HEREDITY | JAPANESE | ACCUMULATION | BISRETINOIDS | DGGE denaturing gradient gel electrophoresis | HP hospital-based | PCR polymerase chain reaction | ABCA4 protein | RPE retinal pigment epithelium | Risk factors | Macular degeneration | NOS Newcastle-Ottawa Scale | Ethnic groups | AREDS Age-Related Eye Disease Study | DHPLC denaturing high performance liquid chromatography | CI confidence interval | ABC ATP-binding cassette | RmP rim protein | OR odds ratio | Age | WARMGS Wisconsin Age-related Maculopathy Grading System | SSCP single-strand conformation polymorphism | STGD Stargardt disease | ABCA4 ATP-binding cassette, sub-family A, member 4 | HA heteroduplex analysis | A2E N-retinyl-N-retinylidene ethanolamine | HWE Hardy-Weinberg equilibrium | AMD age-related macular degeneration | PB population-based | NA not applicable | NP meta-regression was not possible | NR not reported | Mutation | ICGS International Classification and Grading System | Genetic Predisposition to Disease | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | Humans | Risk Factors | Physiological aspects | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1999, Volume 64, Issue 4, pp. 1024 - 1035
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2002, Volume 10, Issue 3, pp. 197 - 203
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals.... 
STGD | Founder mutation | Carrier frequency | Retinal dystrophies | ABCR | ABCA4 | BIOCHEMISTRY & MOLECULAR BIOLOGY | carrier frequency | RECESSIVE RETINITIS-PIGMENTOSA | PHENOTYPE | MACULAR DEGENERATION | POPULATIONS | DISEASE GENE ABCR | CONE-ROD DYSTROPHY | TRANSPORTER GENE | GENETICS & HEREDITY | retinal dystrophies | FOUNDER | EXPRESSION | founder mutation | PHOTORECEPTORS
Journal Article
Human Mutation, ISSN 1059-7794, 05/2004, Volume 23, Issue 5, pp. 523 - 523
Journal Article
ACM International Conference Proceeding Series, 04/2018, pp. 38 - 43
Conference Proceeding
2008 42nd Asilomar Conference on Signals, Systems and Computers, ISSN 1058-6393, 10/2008, Volume 42, pp. 651 - 654
The literature of the last three decades is replete with automatic methods for retinal image analysis. Acceptance has been limited due to post-processing or... 
Degenerative diseases | Humans | Autofluorescence | Clinical trials | Retina | Optical imaging | Age-related Macular Degeneration (AMD) | Reflectivity | Image segmentation | Stargardt Disease (STGD) | Image analysis | Interactive Segmentation | Pressing | Biomedical engineering | Interactive segmentation
Conference Proceeding
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 12/1995, Volume 57, Issue 6, pp. 1351 - 1363
Journal Article
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