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Results: 1-25 |
Results: 25
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
Authors: Boycott, KM Maybaum, TA Naylor, MJ Weleber, RG Robitaille, J Miyake, Y Bergen, AAB Pierpont, ME Pearce, WG Bech-Hansen, NT
Citation: Km. Boycott et al., A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants, HUM GENET, 108(2), 2001, pp. 91-97
Ophthalmologic screening of deaf students in Oregon
Authors: Brinks, MV Murphey, WH Cardwell, W Otos, M Weleber, RG
Citation: Mv. Brinks et al., Ophthalmologic screening of deaf students in Oregon, J PEDIAT OP, 38(1), 2001, pp. 11-15
An analysis of allelic variation in the ABCA4 gene
Authors: Webster, AR Heon, E 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
Citation: Ar. Webster et al., An analysis of allelic variation in the ABCA4 gene, INV OPHTH V, 42(6), 2001, pp. 1179-1189
Molecular genetic heterogeneity in autosomal dominant drusen
Authors: Tarttelin, EE Gregory-Evans, CY Bird, AC Weleber, RG Klein, ML Blackburn, J Gregory-Evans, K
Citation: Ee. Tarttelin et al., Molecular genetic heterogeneity in autosomal dominant drusen, J MED GENET, 38(6), 2001, pp. 381-384
Autosomal dominant Stargardt-like macular dystrophy - Founder effect and reassessment of genetic heterogeneity
Authors: Donoso, LA Frost, AT Stone, EM Weleber, RG MacDonald, IM Hageman, GS Cibis, GW Ritter, R Edwards, AO
Citation: La. Donoso et al., Autosomal dominant Stargardt-like macular dystrophy - Founder effect and reassessment of genetic heterogeneity, ARCH OPHTH, 119(4), 2001, pp. 564-570
Mutations in the CRB1 gene cause Leber congenital amaurosis
Authors: Lotery, AJ Jacobson, SG Fishman, GA Weleber, RG Fulton, AB Namperumalsamy, P Heon, E Levin, AV Grover, S Rosenow, JR Kopp, KK Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Mutations in the CRB1 gene cause Leber congenital amaurosis, ARCH OPHTH, 119(3), 2001, pp. 415-420
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, causeX-linked complete congenital stationary night blindness
Authors: Bech-Hansen, NT Naylor, MJ Maybaum, TA Sparkes, RL Koop, B Birch, DG Bergen, AAB Prinsen, CFM Polomeno, RC Gal, A Drack, AV Musarella, MA Jacobson, SG Young, RSL Weleber, RG
Citation: Nt. Bech-hansen et al., Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, causeX-linked complete congenital stationary night blindness, NAT GENET, 26(3), 2000, pp. 319-323
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Authors: Haider, NB Jacobson, SG Cideciyan, AV Swiderski, R Streb, LM Searby, C Beck, G Hockey, R Hanna, DB Gorman, S Duhl, D Carmi, R Bennett, J Weleber, RG Fishman, GA Wright, AF Stone, EM Sheffield, VC
Citation: Nb. Haider et al., Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate, NAT GENET, 24(2), 2000, pp. 127-131
Diagnostic and therapeutic challenges
Authors: Eifrig, DE Heckenlively, JR Smiddy, WE Weleber, RG
Citation: De. Eifrig et al., Diagnostic and therapeutic challenges, RETINA, 20(1), 2000, pp. 90-93
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration
Authors: Milam, AH Curcio, CA Cideciyan, AV Saxena, S John, SK Kruth, HS Malek, G Heckenlively, JR Weleber, RG Jacobson, SG
Citation: Ah. Milam et al., Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration, OPHTHALMOL, 107(12), 2000, pp. 2256-2266
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
Authors: Jacobson, SG Cideciyan, AV Iannaccone, A Weleber, RG Fishman, GA Maguire, AM Affatigato, LM Bennett, J Pierce, EA Danciger, M Farber, DB Stone, EM
Citation: Sg. Jacobson et al., Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa, INV OPHTH V, 41(7), 2000, pp. 1898-1908
Allelic variation in the VMD2 gene in best disease and age-related maculardegeneration
Authors: Lotery, AJ Munier, FL Fishman, GA Weleber, RG Jacobson, SG Affatigato, LM Nichols, BE Schorderet, DF Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Allelic variation in the VMD2 gene in best disease and age-related maculardegeneration, INV OPHTH V, 41(6), 2000, pp. 1291-1296
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model
Authors: Kobayashi, A Higashide, T Hamasaki, D Kubota, S Sakuma, H An, WJ Fujimaki, T McLaren, MJ Weleber, RG Inana, G
Citation: A. Kobayashi et al., HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model, INV OPHTH V, 41(11), 2000, pp. 3268-3277
A new locus for autosomal dominant congenital cataracts maps to chromosome3
Authors: Kramer, PL LaMorticella, D Schilling, K Billingslea, AM Weleber, RG Litt, M
Citation: Pl. Kramer et al., A new locus for autosomal dominant congenital cataracts maps to chromosome3, INV OPHTH V, 41(1), 2000, pp. 36-39
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation
Authors: Oh, KT Weleber, RG Lotery, A Oh, DM Billingslea, AM Stone, EM
Citation: Kt. Oh et al., Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation, ARCH OPHTH, 118(9), 2000, pp. 1269-1276
Mutation analysis of 3 genes in patients with leber congenital amaurosis
Authors: Lotery, AJ Namperumalsamy, P Jacobson, SG Weleber, RG Fishman, GA Musarella, MA Hoyt, CS Heon, E Levin, A Jan, J Lam, B Carr, RE Franklin, A Radha, S Andorf, JL Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Mutation analysis of 3 genes in patients with leber congenital amaurosis, ARCH OPHTH, 118(4), 2000, pp. 538-543
Autosomal-dominant congenital cataract associated with a deletion mutationin the human beaded filament protein gene BFSP2
Authors: Jakobs, PM Hess, JF FitzGerald, PG Kramer, P Weleber, RG Litt, M
Citation: Pm. Jakobs et al., Autosomal-dominant congenital cataract associated with a deletion mutationin the human beaded filament protein gene BFSP2, AM J HU GEN, 66(4), 2000, pp. 1432-1436
Effects of dystrophin isoforms on signal transduction through neural retina: Genotype-phenotype analysis of Duchenne muscular dystrophy mouse mutants
Authors: Pillers, DAM Weleber, RG Green, DG Rash, SM Dally, GY Howard, PL Powers, MR Hood, DC Chapman, VM Ray, PN Woodward, WR
Citation: Dam. Pillers et al., Effects of dystrophin isoforms on signal transduction through neural retina: Genotype-phenotype analysis of Duchenne muscular dystrophy mouse mutants, MOL GEN MET, 66(2), 1999, pp. 100-110
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
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
Authors: Pillers, DAH Fitzgerald, KM Duncan, NM Rash, SM White, RA Dwinnell, SJ Powell, BR Schnur, RE Ray, PN Cibis, GW Weleber, RG
Citation: Dah. Pillers et al., Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations, HUM GENET, 105(1-2), 1999, pp. 2-9
Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older
Authors: Grover, S Fishman, GA Anderson, RJ Tozatti, MSV Heckenlively, JR Weleber, RG Edwards, AO Brown, J
Citation: S. Grover et al., Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older, OPHTHALMOL, 106(9), 1999, pp. 1780-1785
Screening of the gene encoding the alpha '-subunit of cone cGMP-PDE in patients with retinal degenerations
Authors: Gao, YQ Danciger, M Longmuir, R Piriev, NI Zhao, DY Heckenlively, JR Fishman, GA Weleber, RG Jacobson, SG Stone, EM Farber, DB
Citation: Yq. Gao et al., Screening of the gene encoding the alpha '-subunit of cone cGMP-PDE in patients with retinal degenerations, INV OPHTH V, 40(8), 1999, pp. 1818-1822
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
Authors: Edwards, AO Miedziak, A Vrabec, T Verhoeven, J Acott, TS Weleber, RG Donoso, LA
Citation: Ao. Edwards et al., Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14, AM J OPHTH, 127(4), 1999, pp. 426-435
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome
Authors: Atchaneeyasakul, LO Linck, LM Connor, WE Weleber, RG Steiner, RD
Citation: Lo. Atchaneeyasakul et al., Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome, AM J MED G, 80(5), 1998, pp. 501-505
Peroxisomal disorders
Authors: Weleber, RG
Citation: Rg. Weleber, Peroxisomal disorders, OX MG MED G, (36), 1998, pp. 663-696
Risultati: 1-25 |