Genes and the Eye

Austin C.P. The impact of the completed human genome sequence on the development of novel therapeutics for human disease. Ann Rev Med 2004; 55: 1–13

Nebert D.W. , Vesell E.S. Advances in pharmacogenomics and individualising drug therapy: exciting challenges that lie ahead. Euro J Pharmacol 2004; 500: 267–80

Freimer N. , Sabatti C. The Human Phenome Project. N Genet 2003; 34: 15–21

Scriver C.R. After the genome—the phenome? J Inherit Metab Dis 2004; 27: 305–17

Wilson E.B. The sex chromosome. Arch Mikrusk Anal Entwicklungsmech 1911; 77: 249–71

Blackburn J. , Tarttelin E.E. , Gregory-Evans C.Y. , Moosajee M. , Gregory-Evans K. Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina. Invest Ophthalmol Vis Sci 2003; 44: 4613–21

Klein M.L. , Francis P.J. Genetic of age-related macular degeneration. Ophthalmol Clin N Am 2003; 16: 567–74

McKusick V.A. Mendelian Inheritance in Man. Baltimore: Johns Hopkins University Press, 1992

Schulz H.L. , Goetz T. , Kaschkoetoe J. , Weber B.H.F. The retinome—defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium. BMC Genomics 2004; 5: 50–61

Bird A.C. What should a clinician know to be prepared for the advent of treatment of retinal dystrophies? Novartis Found Symp 2004; 255: 85–94

Rolling F. Recombinant AAV-mediated gene transfer to the retina: gene therapy perspectives. Gene Therapy 2004; 11: S26–32

Narfstrom K. , Katz M.L. , Bragadothir R. . Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest Ophthalmol Vis Sci 2003; 44: 1663–72

Otani A. , Dorrell M.I. , Kinder K. . Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells. J Clin Invest 2004; 114: 765–74