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Genomes and Genes | Margaret M DeAngelisSummaryAffiliation: Harvard University Country: USA Publications
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Publications
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degenerationMargaret M DeAngelis
Ocular Molecular Genetics Institute, Harvard Medical School, Boston, MA 02114, USA
Arch Ophthalmol 122:575-80. 2004..CONCLUSION: Using extremely discordant sib pairs to study risk factors for AMD, a novel approach in epidemiological design, we found evidence that smoking is a risk factor for neovascular AMD...
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patternsCarlo Rivolta
Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
Hum Mol Genet 11:1219-27. 2002..Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%...
Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degenerationMargaret M DeAngelis
Department of Ophthalmology, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, USA
Arch Ophthalmol 125:49-54. 2007....
Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degenerationIvana K Kim
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
Mol Vis 14:1487-95. 2008..Additionally we examined the degree to which CRP common variation was in linkage disequilibrium (LD) within our cohort...
Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degenerationMargaret M DeAngelis
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
Ophthalmology 115:1209-1215.e7. 2008....
Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degenerationMichael T Andreoli
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
Am J Ophthalmol 148:869-74. 2009..To examine the interaction of genotypic variation of 16 single-nucleotide polymorphisms (SNP) in the complement factor H (CFH) and LOC387715/ARMS2/HTRA1 loci with clinical characteristics of age-related macular degeneration (AMD)...
Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristicsMichael Feehan
Ocular Molecular Genetics Institute and the Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
BMC Med Genet 12:83. 2011..In the present study, we identify patient subtypes or clusters which could represent several different targets for treatment development, based on genetic pathways in AMD and cardiovascular pathology...
Prospective study of common variants in the retinoic acid receptor-related orphan receptor α gene and risk of neovascular age-related macular degenerationDebra A Schaumberg
Division of Preventive Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02215, USA
Arch Ophthalmol 128:1462-71. 2010..We aimed to determine if common variants in RORA predict future risk of neovascular AMD...
Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degenerationMargaux A Morrison
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA, USA
Hum Genomics 5:538-68. 2011..These data not only extend previous biological studies in the AMD field, but further emphasise common antecedents between several disorders with an inflammatory/immunogenic component such as cardiovascular disease, cancer and AMD...
The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degenerationHong Zhang
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
BMC Med Genet 9:51. 2008..Conditional logistic regression was used to determine significant gene-gene interactions. LRT was used to determine the best fit for each genotypic model tested (additive, dominant or recessive)...
Genetics of age-related macular degeneration: current concepts, future directionsMargaret M DeAngelis
Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA
Semin Ophthalmol 26:77-93. 2011..Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways...
Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approachAlexandra C Silveira
Ocular Molecular Genetics Institute and Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
Vision Res 50:698-715. 2010..Moreover, we found a significant interaction between RORA and the ARMS2/HTRA1 locus suggesting a novel pathway underlying AMD pathophysiology...
DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversityBao Jian Fan
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
BMC Med Genet 9:5. 2008....
Increased choroidal neovascularization following laser induction in mice lacking lysyl oxidase-like 1Hyeong Gon Yu
Angiogenesis Laboratory and Laser Laboratory, Retina Research Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
Invest Ophthalmol Vis Sci 49:2599-605. 2008..This study investigated the influence of defective elastic fiber maintenance in the development of laser-induced CNV...
High throughput mass spectrometry-based mutation profiling of primary uveal melanomaAnthony B Daniels
Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114 3096, USA
Invest Ophthalmol Vis Sci 53:6991-6. 2012..We assessed for mutations in a large number of oncogenes and tumor suppressor genes in primary uveal melanomas using a high-throughput profiling system...
Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analysesFrederick A Jakobiec
David G Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts 02114, USA Email
J AAPOS 15:579-86. 2011..To describe new findings in a case of unilateral retinal dysplasia...
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosaMargaret M DeAngelis
Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114, USA
Arch Ophthalmol 120:369-75. 2002....
