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A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

artículo científico publicado en 2007

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

artículo científico publicado en 2006

Complement factor D in age-related macular degeneration

artículo científico publicado en 2011

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene

artículo científico publicado en 2008

Distinct signature of altered homeostasis in aging rod photoreceptors: implications for retinal diseases

artículo científico publicado en 2010

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

artículo científico publicado en 2011

Genetic association study of age-related macular degeneration in the Spanish population

artículo científico publicado en 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

artículo científico publicado en 2010

Genome-wide association study and meta-analysis of intraocular pressure

artículo científico publicado en 2013

Global expression profiling of peripheral Qa-1-restricted CD8αα+TCRαβ+ regulatory T cells reveals innate-like features: implications for immune-regulatory repertoire

artículo científico publicado en 2011

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

artículo científico publicado en 2007

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration

artículo científico publicado en 2013

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

artículo científico publicado en 2013

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

artículo científico publicado en 2007

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

artículo científico publicado en 2012

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations

artículo científico publicado en 2013

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

artículo científico publicado en 2006

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

artículo científico publicado en 2010

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

artículo científico publicado en 2014

Toll-like Receptor Polymorphisms and Age-Related Macular Degeneration

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

artículo científico publicado en 2011