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Results: 1-13 |
Results: 13
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominantretinitis pigmentosa (RP13)
Authors: McKie, AB McHale, JC Keen, TJ Tarttelin, EE Goliath, R van Lith-Verhoeven, JJC Greenberg, J Ramesar, RS Hoyng, CB Cremers, FPM Mackey, DA Bhattacharya, SS Bird, AC Markham, AF Inglehearn, CF
Citation: Ab. Mckie et al., Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominantretinitis pigmentosa (RP13), HUM MOL GEN, 10(15), 2001, pp. 1555-1562
Long-term results of radiotherapy for age-related macular degeneration
Authors: Bergink, GJ Hoyng, CB Van Der Maazen, RWM Vingerling, JR Van Daal, WAJ Deutman, AF
Citation: Gj. Bergink et al., Long-term results of radiotherapy for age-related macular degeneration, MED RADIOL, 2001, pp. 103-109
CNGA3 mutations in hereditary cone photoreceptor disorders
Authors: Wissinger, B Gamer, D Jagle, H Giorda, R Marx, T Mayer, S Tippmann, S Broghammer, M Jurklies, B Rosenberg, T Jacobson, SG Sener, EC Tatlipinar, S Hoyng, CB Castellan, C Bitoun, P Andreasson, S Rudolph, G Kellner, U Lorenz, B Wolff, G Verellen-Dumoulin, C Schwartz, M Cremers, FPM Apfelstedt-ylla, E Zrenner, E Salati, R Sharpe, LT Kohl, S
Citation: B. Wissinger et al., CNGA3 mutations in hereditary cone photoreceptor disorders, AM J HU GEN, 69(4), 2001, pp. 722-737
Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
Authors: den Hollander, AI Heckenlively, JR van den Born, LI de Kok, YJM van der Velde-Visser, SD Kellner, U Jurklies, B van Schooneveld, MJ Blankenagel, A Rohrschneider, K Wissinger, B Cruysberg, JRM Deutman, AF Brunner, HG Apfeldstedt-Sylla, E Hoyng, CB Cremers, FPM
Citation: Ai. Den Hollander et al., Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene, AM J HU GEN, 69(1), 2001, pp. 198-203
Relationship between anticoagulant medication and massive intraocular hemorrhage in age-related macular degeneration
Authors: Tilanus, MAD Vaandrager, W Cuyper, MHM Verbeek, AM Hoyng, CB
Citation: Mad. Tilanus et al., Relationship between anticoagulant medication and massive intraocular hemorrhage in age-related macular degeneration, GR ARCH CL, 238(6), 2000, pp. 482-485
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
Authors: Maugeri, A Klevering, BJ Rohrschneider, K Blankenagel, A Brunner, HG Deutman, AF Hoyng, CB Cremers, FPM
Citation: A. Maugeri et al., Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy, AM J HU GEN, 67(4), 2000, pp. 960-966
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Authors: den Hollander, AI ten Brink, JB de Kok, YJM van Soest, S van den Born, LI van Driel, MA van de Pol, DJR Payne, AM Bhattacharya, SS Kellner, U Hoyng, CB Westerveld, A Brunner, HG Bleeker-Wagemakers, EM Deutman, AF Heckenlively, JR Cremers, FPM Bergen, AAB
Citation: Ai. Den Hollander et al., Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12), NAT GENET, 23(2), 1999, pp. 217-221
Isolation and mapping of novel candidate genes for retinal disorders usingsuppression subtractive hybridization
Authors: den Hollander, AI van Driel, MA de Kok, YJM van de Pol, DJR Hoyng, CB Brunner, HG Deutman, AF Cremers, FPM
Citation: Ai. Den Hollander et al., Isolation and mapping of novel candidate genes for retinal disorders usingsuppression subtractive hybridization, GENOMICS, 58(3), 1999, pp. 240-249
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22
Authors: den Hollander, A van der Velde-Visser, SD Pinckers, AJLG Hoyng, CB Brunner, HG Cremers, FPM
Citation: A. Den Hollander et al., Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22, HUM GENET, 104(1), 1999, pp. 73-76
Using interleukin 10 to interleukin 6 ratio to distinguish primacy intraocular lymphoma and uveitis - Response
Authors: Ongkosuwito, JV Feron, EJ van Doornik, CEM Van der Lelij, A Hoyng, CB La Heij, E Kijlstra, A
Citation: Jv. Ongkosuwito et al., Using interleukin 10 to interleukin 6 ratio to distinguish primacy intraocular lymphoma and uveitis - Response, INV OPHTH V, 40(10), 1999, pp. 2462-2463
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene
Authors: Klevering, BJ van Driel, M van de Pol, DJR Pinckers, AJLG Cremers, FPM Hoyng, CB
Citation: Bj. Klevering et al., Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene, BR J OPHTH, 83(8), 1999, pp. 914-918
The 2588G -> C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCRmutations in patients with Stargardt disease
Authors: Maugeri, A van Driel, MA van de Pol, DJR Klevering, BJ van Haren, FJJ Tijmes, N Bergen, AAB Rohrschneider, K Blankenagel, A Pinckers, AJLG Dahl, N Brunner, HG Deutman, AF Hoyng, CB Cremers, FPM
Citation: A. Maugeri et al., The 2588G -> C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCRmutations in patients with Stargardt disease, AM J HU GEN, 64(4), 1999, pp. 1024-1035
Analysis of immunoregulatory cytokines in ocular fluid samples from patients with uveitis
Authors: Ongkosuwito, JV Feron, EJ van Doornik, CEM Van der Lelij, A Hoyng, CB La Heij, EC Kijlstra, A
Citation: Jv. Ongkosuwito et al., Analysis of immunoregulatory cytokines in ocular fluid samples from patients with uveitis, INV OPHTH V, 39(13), 1998, pp. 2659-2665
Risultati: 1-13 |