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Results: 1-13 |
Results: 13
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
Authors: Gerber, S Perrault, I Hanein, S Barbet, F Ducroq, D Ghazi, I Martin-Coignard, D Leowski, C Homfray, T Dufier, JL Munnich, A Kaplan, J Rozet, JM
Citation: S. Gerber 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 G, 9(8), 2001, pp. 561-571
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)
Authors: Rozet, JM Perrault, I Gerber, S Hanein, S Barbet, F Ducroq, D Souied, E Munnich, A Kaplan, J
Citation: Jm. Rozet et al., Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA), INV OPHTH V, 42(6), 2001, pp. 1190-1192
Spectrum of retGC1 mutations in Leber's congenital amaurosis
Authors: Perrault, I Rozet, JM Gerber, S Ghazi, I Ducroq, D Souied, E Leowski, C Bonnemaison, M Dufier, JL Munnich, A Kaplan, J
Citation: I. Perrault et al., Spectrum of retGC1 mutations in Leber's congenital amaurosis, EUR J HUM G, 8(8), 2000, pp. 578-582
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
Authors: Gerber, S Rozet, JM Takezawa, SI dos Santos, LC Lopes, L Gribouval, O Penet, C Perrault, I Ducroq, D Souied, E Jeanpierre, M Romana, S Frezal, J Ferraz, F Yu-Umesono, R Munnich, A Kaplan, J
Citation: S. Gerber et al., The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition, HUM GENET, 107(3), 2000, pp. 276-284
ABCR gene analysis in familial exudative age-related macular degeneration
Authors: Souied, EH Ducroq, D Rozet, JM Gerber, S Perrault, I Munnich, A Coscas, G Soubrane, G Kaplan, J
Citation: Eh. Souied et al., ABCR gene analysis in familial exudative age-related macular degeneration, INV OPHTH V, 41(1), 2000, pp. 244-247
Leber congenital amaurosis
Authors: Perrault, I Rozet, JM Gerber, S Ghazi, I Leowski, C Ducroq, D Souied, E Dufier, JL Munnich, A Kaplan, J
Citation: I. Perrault et al., Leber congenital amaurosis, MOL GEN MET, 68(2), 1999, pp. 200-208
The ABCR gene: A major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly
Authors: Rozet, JM Gerber, S Souied, E Ducroq, D Perrault, I Ghazi, I Soubrane, G Coscas, G Dufier, JL Munnich, A Kaplan, J
Citation: Jm. Rozet et al., The ABCR gene: A major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly, MOL GEN MET, 68(2), 1999, pp. 310-315
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus
Authors: Souied, EH Ducroq, D Rozet, JM Gerber, S Perrault, I Sterkers, M Benhamou, N Munnich, A Coscas, G Soubrane, G Kaplan, J
Citation: Eh. Souied et al., A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus, INV OPHTH V, 40(11), 1999, pp. 2740-2744
Mutations of the retinal specific ATP binding transporter gene (ABCR) in asingle family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus
Authors: Rozet, JM Gerber, S Ghazi, I Perrault, I Ducroq, D Souied, E Cabot, A Dufier, JL Munnich, A Kaplan, J
Citation: Jm. Rozet et al., Mutations of the retinal specific ATP binding transporter gene (ABCR) in asingle family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus, J MED GENET, 36(6), 1999, pp. 447-451
Age-related macular degeneration in grandparents of patients with Stargardt disease: Genetic study
Authors: Souied, EH Ducroq, D Gerber, S Ghazi, I Rozet, JM Perrault, I Munnich, A Dufier, JL Coscas, C Soubrane, G Kaplan, J
Citation: Eh. Souied et al., Age-related macular degeneration in grandparents of patients with Stargardt disease: Genetic study, AM J OPHTH, 128(2), 1999, pp. 173-178
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
Authors: Cabot, A Rozet, JM Gerber, S Perrault, I Ducroq, D Smahi, A Souied, E Munnich, A Kaplan, J
Citation: A. Cabot et al., A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3, AM J HU GEN, 64(4), 1999, pp. 1141-1146
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
Authors: Perrault, I Rozet, JM Ghazi, I Leowski, C Bonnemaison, M Gerber, S Ducroq, D Cabot, A Souied, E Dufier, JL Munnich, A Kaplan, J
Citation: I. Perrault et al., Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis, AM J HU GEN, 64(4), 1999, pp. 1225-1228
Inherited macular dystrophies
Authors: Kaplan, J Rozet, JM Gerber, S Ducroq, D Souied, E Perrault, I Munnich, A
Citation: J. Kaplan et al., Inherited macular dystrophies, M S-MED SCI, 14(12), 1998, pp. 1329-1336
Risultati: 1-13 |