Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
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J. Cruysberg | T. de Ravel | A. D. den Hollander | R. Roepman | F. Cremers | I. Casteels | R. Allikmets | S. Yzer | F. Meire | K. Rohrschneider | L. I. van den Born | U. Kellner | Norka van Moll-Ramirez | B. Leroy | Marijke N. Zonneveld | J. D. de Faber | K. Voesenek | E. de Baere | J. P. M. Ciriano | Bart P. Leroy | F. Meire | F. Cremers | Jan T H N de Faber | J. R. Cruysberg
[1] B. J. Klevering,et al. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa , 2004, European Journal of Human Genetics.
[2] Jason J. Davis,et al. CRB1 mutation spectrum in inherited retinal dystrophies , 2004, Human mutation.
[3] A. Munnich,et al. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. , 2004, American journal of human genetics.
[4] Peter Nürnberg,et al. Erratum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy (Nature Genetics (2004) 36 (850-854)) , 2004 .
[5] A. Bird,et al. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. , 2004, Archives of ophthalmology.
[6] P. Rakoczy,et al. Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue , 2004, Genetic vaccines and therapy.
[7] A. Munnich,et al. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis , 2004, Human mutation.
[8] A. Y. Chow,et al. The artificial silicon retina microchip for the treatment of vision loss from retinitis pigmentosa. , 2004, Archives of ophthalmology.
[9] G. Bock,et al. Retinal dystrophies : functional genomics to gene therapy , 2003 .
[10] J. Lupski,et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene , 2003, Human mutation.
[11] H. Brunner,et al. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population , 2003, Journal of medical genetics.
[12] B. Lorenz,et al. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. , 2003, Investigative ophthalmology & visual science.
[13] Weng Tao,et al. Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa. , 2002, Investigative ophthalmology & visual science.
[14] A. D. den Hollander,et al. Molecular genetics of Leber congenital amaurosis. , 2002, Human molecular genetics.
[15] K Rohrschneider,et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. , 2001, American journal of human genetics.
[16] T. L. McGee,et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. , 2001, American journal of human genetics.
[17] Jean Bennett,et al. Gene therapy restores vision in a canine model of childhood blindness , 2001, Nature Genetics.
[18] C. Hamel,et al. Retinal dystrophies caused by mutations inRPE65: assessment of visual functions , 2001, The British journal of ophthalmology.
[19] V. Sheffield,et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. , 2001, Archives of ophthalmology.
[20] E. Stone,et al. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation , 2001, Ophthalmic genetics.
[21] B. Lorenz,et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. , 2000, Investigative ophthalmology & visual science.
[22] C. Cepko,et al. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis , 2000, Nature Genetics.
[23] Shomi S. Bhattacharya,et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa with preserved para-arteriolar RPE (RP12). , 2000 .
[24] E. Traboulsi,et al. Mutational analysis and clinical correlation in Leber congenital amaurosis , 2000, Ophthalmic genetics.
[25] A. Deutman,et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) , 1999, Nature Genetics.
[26] C. Freund,et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. , 1998, American journal of human genetics.
[27] V. Sheffield,et al. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis , 1998, Nature Genetics.
[28] A Blankenagel,et al. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. , 1998, Genomics.
[29] Birgit Lorenz,et al. Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy , 1997, Nature Genetics.
[30] E. Zrenner,et al. Mutations in RPE65 cause Leber's congenital amaurosis , 1997, Nature Genetics.
[31] J. Lupski,et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy , 1997, Nature Genetics.
[32] D. Paslier,et al. Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis , 1996, Nature Genetics.
[33] Shirley A. Miller,et al. A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.
[34] J. Schappert-Kimmijser,et al. ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS * , 1963, Acta ophthalmologica.
[35] Th. Leber,et al. Ueber Retinitis pigmentosa und angeborene Amaurose , 1869, Archiv für Ophthalmologie.
[36] G. Silvestri,et al. Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. , 2005, Investigative ophthalmology & visual science.
[37] J. Heckenlively,et al. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy , 2004, Nature Genetics.
[38] J. Bennett. Gene therapy for Leber congenital amaurosis. , 2004, Novartis Foundation symposium.
[39] J. Bennett,et al. Gene therapy for Leber congenital amaurosis. , 2003, Advances in experimental medicine and biology.
[40] P. Sieving,et al. Clinical course and visual function in a family with mutations in the RPE65 gene. , 2002, Archives of ophthalmology.
[41] A Uvijls,et al. A large field Panel D-15 test for low vision patients. , 1998, Bulletin de la Societe belge d'ophtalmologie.
[42] J. Lupski,et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. , 1997, Science.