Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Mutations in the ARMS2 gene have been associated with age-related macular degeneration.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Bergeron-Sawitzke J et al. (2009) Multilocus analysis of age-related macular degeneration. 
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| 2. |
Fritsche LG et al. (2013) Seven new loci associated with age-related macular degeneration.
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| 3. |
Ho L et al. (2011) Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study.
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| 4. |
Francis PJ et al. (2008) Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.
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| 5. |
Fritsche LG et al. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.
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| 6. |
Kanda A et al. (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.
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| 7. |
Schaumberg DA et al. (2007) A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors.
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| 8. |
Dewan A et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration.
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| 9. |
Conley YP et al. (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
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| 10. |
Schmidt S et al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.
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| 11. |
Rivera A et al. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
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| 12. |
Fisher SA et al. (2005) Meta-analysis of genome scans of age-related macular degeneration.
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| 13. |
Kenealy SJ et al. (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.
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| 14. |
Jakobsdottir J et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26.
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| 15. |
Weeks DE et al. (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.
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| 16. |
Seddon JM et al. (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.
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| 17. |
Majewski J et al. (2003) Age-related macular degeneration--a genome scan in extended families.
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| 18. |
Maller J et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.
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| 19. |
OMIM.ORG article Omim 611313
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| 20. |
NCBI article NCBI 387715
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| 21. |
Wikipedia article Wikipedia EN (ARMS2)
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