References
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- Braude P, Pickering S, Flinter F, Ogilvie CM. Preimplantation
genetic diagnosis. Nat Rev Genet. Dec 2002;3(12):941-953.
- Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa
and allied diseases: numerous diseases, genes, and inheritance patterns. Hum
Mol Genet. May 15 2002;11(10):1219-1227.
- Stone EM, Sheffield VC, Hageman GS. Molecular genetics of
age-related macular degeneration. Hum Mol Genet. Oct 1 2001;10(20):2285-2292.
- Johnson AT, Alward WLM, Sheffield VC, Stone EM. Genetics
and Glaucoma. In: Ritch R, Shields MB, Krupin T, eds. The Glaucomas. Vol II.
Second ed. Chicago: Mosby; 1996:39-54.
- Sohocki MM, Perrault I, Leroy BP, et al. Prevalence of AIPL1
mutations in inherited retinal degenerative disease. Mol Genet Metab. Jun
2000;70(2):142-150.
- Lotery AJ, Namperumalsamy P, Jacobson SG, et al. Mutation
analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol.
Apr 2000;118(4):538-543.
- Gerber S, Perrault I, Hanein S, et al. Complete exon-intron
structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification
of mutations underlying Leber congenital amaurosis. Eur J Hum Genet. Aug 2001;9(8):561-571.
- Acland GM, Aguirre GD, Ray J, et al. Gene therapy restores
vision in a canine model of childhood blindness. Nat Genet. May 2001;28(1):92-95.
- Kahn HA, Moorhead HB. Statistics on blindness in the model
reporting area 1969-70: United States Department of Health, Education, and
Welfare Publication; 1973. 73-427.
- Kahn HA, Leibowitz HM, Ganley JP, et al. The Framingham
eye study I. Outline and major prevalence findings. Am J Epidemiol. 1977;106:17-32.
- Klein BE, Klein R. Cataracts and Macular Degeneration in
Older Americans. Arch Ophthal. 1982;100(April):571-573.
- Sunyaev S, Ramensky V, Koch I, Lathe W, 3rd, Kondrashov
AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet. Mar 15
2001;10(6):591-597.
- Webster AR HE, Lotery AJ, Vandenburgh K, Casavant TL, Oh
KT, Beck G, Fishman, GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber
RG, Sheffield VC, Stone EM. An analysis of allelic variation in the ABCA4
gene. Invest Ophthalmol Vis Sci. 2001;42(6):1179-1189.
- Palczewski K, Kumasaka T, Hori T, et al. Crystal structure
of rhodopsin: A G protein-coupled receptor. Science. Aug 4 2000;289(5480):739-745.
- Teller DC, Okada T, Behnke CA, Palczewski K, Stenkamp RE.
Advances in determination of a high-resolution three-dimensional structure
of rhodopsin, a model of G-protein-coupled receptors (GPCRs). Biochemistry.
Jul 3 2001;40(26):7761-7772.
- Olsson JE, Gordon, J.W., Pawlyk, B.S., Roof, D., Hayes,
A., Molday, R.S., Mukai, S., Cowley, G.S., Berson, E.L., Dryja, T.P. Transgenic
Mice with a Rhodopsin Mutation (Pro23His): A Mouse Model of Autosomal Dominant
Retinitis Pigmentosa. Neuron. 1992;9:815-830.
- Naash MI, Hollyfield JG, al-Ubaidi MR, Baehr W. Simulation
of human autosomal dominant retinitis pigmentosa in transgenic mice expressing
a mutated murine opsin gene. Proc Natl Acad Sci U S A. Jun 15 1993;90(12):5499-5503.
- Petters RM, Alexander CA, Wells KD, et al. Genetically
engineered large animal model for studying cone photoreceptor survival and
degeneration in retinitis pigmentosa. Nat Biotechnol. Oct 1997;15(10):965-970.
- Henikoff S HJ. Amino acid substitution matrices from protein
blocks. Proc Natl Acad Sci USA. 1992;89:10915-10919.
- Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1
mutation associated with both Malattia Leventinese and Doyne honeycomb retinal
dystrophy. Nature Genetics. 1999;Vol. 22(June):199-202.
- Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin
mutations in 1703 glaucoma patients from five different populations. Hum Mol
Genet. 1999;8(5):899-905.
- Donoso LA, Edwards AO, Frost A, et al. Autosomal dominant
Stargardt-like macular dystrophy. Surv Ophthalmol. Sep-Oct 2001;46(2):149-163.
- Dryja TP, McGee TL, Reichel E, et al. A point mutation
of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343:364-366.
- Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja
TP. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991;354:480-483.
- Farrar GJ, Kenna P, Siobhan, et al. A three base pair deletion in the peripherin RDS gene in one form of retinitis pigmentosa. Nature. 1991;354(12)(December):478-483.
- Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Human Molecular Genetics. 1996;Vo. 5 No.4:525-531
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