Fast and slow oscillations of the electro-oculogram in best's mcular dystrophy and retinitis pigmentosaWELEBER, R. G.Archives of ophthalmology (1960). 1989, Vol 107, Num 4, pp 530-537, issn 0003-9950Article

Familial optic atrophy with negative electroretinogramsWELEBER, R. G; MIYAKE, Y.Archives of ophthalmology (1960). 1992, Vol 110, Num 5, pp 640-645, issn 0003-9950Article

The dystrophic retina in multisystem disorders : the electroretinogram in neuronal ceroid lipofuscinosesWELEBER, R. G.Eye (London. 1987). 1998, Vol 12, pp 580-590, issn 0950-222X, 3BConference Paper

Electrophysiological evaluation of children with visual impairmentWELEBER, R. G; PALMER, E. A.Seminars in ophthalmology. 1991, Vol 6, Num 4, pp 161-168, issn 0882-0538Article

X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenonNECKENLIVELY, J. R; WELEBER, R. G.Archives of ophthalmology (1960). 1986, Vol 104, Num 9, pp 1322-1328, issn 0003-9950Article

Normal α-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophySTOUMBOS, V. D; WELEBER, R. G; KENNAWAY, N. G et al.American journal of ophthalmology. 1988, Vol 106, Num 1, pp 11-16, issn 0002-9394Article

Ocular clinicopathologic study of gyrate atrophyWILSON, D. J; WELEBER, R. G; GREEN, W. R et al.American journal of ophthalmology. 1991, Vol 111, Num 1, pp 24-33, issn 0002-9394, 10 p.Article

Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retinaHOTTA, Y; KENNAWAY, N. G; WELEBER, R. G et al.American journal of human genetics. 1989, Vol 44, Num 3, pp 353-357, issn 0002-9297Article

Retinal dystrophy in Jeune's syndromeWILSON, D. J; WELEBER, R. G; BEALS, R. K et al.Archives of ophthalmology (1960). 1987, Vol 105, Num 5, pp 651-657, issn 0003-9950Article

Heterogeneity and complementation analysis of fibroblasts from vitam B₆ responsive and non-responsive patients with gyrate atrophy of the choroid and retinaWIRTZ, M. K; KENNAWAY, N. G; WELEBER, R. G et al.Journal of inherited metabolic disease. 1985, Vol 8, Num 2, pp 71-74, issn 0141-8955Article

A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophyMASHIMA, Y; WELEBER, R. G; KENNAWAY, N. G et al.Human genetics. 1992, Vol 90, Num 3, pp 305-307, issn 0340-6717Article

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2JAKOBS, P. M; HESS, J. F; FITZGERALD, P. G et al.American journal of human genetics. 2000, Vol 66, Num 4, pp 1432-1436, issn 0002-9297Article

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosaJACOBSON, S. G; CIDECIYAN, A. V; FARBER, D. B et al.Investigative ophthalmology & visual science. 2000, Vol 41, Num 7, pp 1898-1908, issn 0146-0404Article

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutationsPILLERS, D.-A. M; FITZGERALD, K. M; WELEBER, R. G et al.Human genetics. 1999, Vol 105, Num 1-2, pp 2-9, issn 0340-6717Article

Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or olderGROVER, S; FISHMAN, G. A; ANDERSON, R. J et al.Ophthalmology (Rochester, MN). 1999, Vol 106, Num 9, pp 1780-1785, issn 0161-6420Article

Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosaFISHMAN, G. A; GILBERT, L. D; ANDERSON, R. J et al.Ophthalmology (Rochester, MN). 1994, Vol 101, Num 4, pp 687-693, issn 0161-6420Article

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity testsOTT, J; BHATTACHARYA, S; HUMPHRIES, P et al.Proceedings of the National Academy of Sciences of the United States of America. 1990, Vol 87, Num 2, pp 701-704, issn 0027-8424Article

Bietti's crystalline dystrophy: a clinicopathologic correlative studyWILSON, D. J; WELEBER, R. G; KLEIN, M. L et al.Archives of ophthalmology (1960). 1989, Vol 107, Num 2, pp 213-221, issn 0003-9950Article

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosaOH, K. T; OH, D. M; WELEBER, R. G et al.British journal of ophthalmology. 2004, Vol 88, Num 12, pp 1533-1537, issn 0007-1161, 5 p.Article

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fateHAIDER, N. B; JACOBSON, S. G; DUHL, D et al.Nature genetics. 2000, Vol 24, Num 2, pp 127-131, issn 1061-4036Article

Screening of the gene encoding the α'-subunit of cone cGMP-PDE in patients with retinal degenerationsYONG QING GAO; DANCIGER, M; FARBER, D. B et al.Investigative ophthalmology & visual science. 1999, Vol 40, Num 8, pp 1818-1822, issn 0146-0404Article

Age-related macular degeneration: Clinical features in a large family and linkage to chromosome 1qKLEIN, M. L; SCHULTZ, D. W; ACOTT, T. S et al.Archives of ophthalmology (1960). 1998, Vol 116, Num 8, pp 1082-1088, issn 0003-9950Article

OA1 mutations and deletions in x-linked ocular albinismSCHNUR, R. E; MEI GAO; KISTENMACHER, M et al.American journal of human genetics. 1998, Vol 62, Num 4, pp 800-809, issn 0002-9297Article

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphismFUKAI, K; HOLMES, S. A; LUCCHESE, N. J et al.Nature genetics. 1995, Vol 9, Num 1, pp 92-95, issn 1061-4036Article

Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivityMARMOR, M. F; JACOBSON, S. G; FOERSTER, M. H et al.American journal of ophthalmology. 1990, Vol 110, Num 2, pp 124-134, issn 0002-9394, 11 p.Article