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Results: 1-8 |
Results: 8
Bietti crystalline retinopathy and juvenile retinoschisis in a family witha novel RS1 mutation
Authors: Weinberg, DV Sieving, PA Bingham, EL Jampol, LM Mets, MB
Citation: Dv. Weinberg et al., Bietti crystalline retinopathy and juvenile retinoschisis in a family witha novel RS1 mutation, ARCH OPHTH, 119(11), 2001, pp. 1719-1721
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy
Authors: Ayyagari, R Kakuk, LE Bingham, EL Szczesny, JJ Kemp, J Toda, Y Felius, J Sieving, PA
Citation: R. Ayyagari et al., Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy, HUM GENET, 107(1), 2000, pp. 75-82
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
Authors: Thompson, DA Gyurus, P Fleischer, LL Bingham, EL McHenry, CL Apfelstedt-Sylla, E Zrenner, E Lorenz, B Richards, JE Jacobson, SG Sieving, PA Gal, A
Citation: Da. Thompson et al., Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration, INV OPHTH V, 41(13), 2000, pp. 4293-4299
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
Authors: Eksandh, LC Ponjavic, V Ayyagari, R Bingham, EL Hiriyanna, KT Andreasson, S Ehinger, B Sieving, PA
Citation: Lc. Eksandh et al., Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene, ARCH OPHTH, 118(8), 2000, pp. 1098-1104
Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of thelocus control region (LCR) and part of the red pigment gene
Authors: Ayyagari, R Kakuk, LE Coats, CL Bingham, EL Toda, Y Felius, J Sieving, PA
Citation: R. Ayyagari et al., Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of thelocus control region (LCR) and part of the red pigment gene, MOL VIS, 5(13-14), 1999, pp. NIL_1-NIL_6
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
Authors: Hiriyanna, KT Bingham, EL Yashar, BM Ayyagari, R Fishman, G Small, KW Weinberg, DV Weleber, RG Lewis, RA Andreasson, S Richards, JE Sieving, PA
Citation: Kt. Hiriyanna et al., Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change, HUM MUTAT, 14(5), 1999, pp. 423-427
Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid induced gene in Xp22
Authors: Walpole, SM Hiriyana, KT Nicolaou, A Bingham, EL Durham, J Vaudin, M Ross, MT Yates, JRW Sieving, PA Trump, D
Citation: Sm. Walpole et al., Identification and characterization of the human homologue (RAI2) of a mouse retinoic acid induced gene in Xp22, GENOMICS, 55(3), 1999, pp. 275-283
Juvenile x-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave
Authors: Sieving, PA Bingham, EL Kemp, J Richards, J Hiriyanna, K
Citation: Pa. Sieving et al., Juvenile x-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave, AM J OPHTH, 128(2), 1999, pp. 179-184
Risultati: 1-8 |