Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1), Invest Ophthalmol Vis Sci, vol.42, issue.10, pp.2217-2241, 2001. ,
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa, Human Molecular Genetics, vol.8, issue.11, pp.2121-2129, 1999. ,
DOI : 10.1093/hmg/8.11.2121
Causing Autosomal Recessive Retinitis Pigmentosa, Investigative Opthalmology & Visual Science, vol.51, issue.4, pp.2236-2278, 2010. ,
DOI : 10.1167/iovs.09-4437
A novel missense RP1 mutation in retinitis pigmentosa, Eye, vol.41, issue.5, pp.602-607, 2006. ,
DOI : 10.1111/j.1432-1033.2004.03991.x
Genetic Factors Modifying Clinical Expression of Autosomal Dominant RP, Adv Exp Med Biol, vol.572, pp.3-8, 2006. ,
DOI : 10.1007/0-387-32442-9_1
A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome, Cell, vol.92, issue.1, pp.51-61, 1998. ,
DOI : 10.1016/S0092-8674(00)80898-3
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa, British Journal of Ophthalmology, vol.86, issue.3, pp.328-360, 2002. ,
DOI : 10.1136/bjo.86.3.328
Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q., British Journal of Ophthalmology, vol.79, issue.9, pp.841-847, 1995. ,
DOI : 10.1136/bjo.79.9.841
Doublecortin Is a Developmentally Regulated, Microtubule-Associated Protein Expressed in Migrating and Differentiating Neurons, Neuron, vol.23, issue.2, pp.247-56, 1999. ,
DOI : 10.1016/S0896-6273(00)80777-1
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population, BMC Medical Genetics, vol.23, issue.2, p.35, 2006. ,
DOI : 10.1016/S0896-6273(00)80778-3
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene, Proceedings of the National Academy of Sciences, vol.99, issue.8, pp.995698-703, 2002. ,
DOI : 10.1073/pnas.042122399
doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein, Cell, vol.92, issue.1, pp.63-72, 1998. ,
DOI : 10.1016/S0092-8674(00)80899-5
A Nonsense Mutation in a Novel Gene Is Associated With Retinitis Pigmentosa in a Family Linked to the RP1 Locus, Human Molecular Genetics, vol.8, issue.8, pp.1541-1547, 1999. ,
DOI : 10.1093/hmg/8.8.1541
Retinitis pigmentosa, The Lancet, vol.368, issue.9549, pp.1795-809, 2006. ,
DOI : 10.1016/S0140-6736(06)69740-7
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa, Invest Ophthalmol Vis Sci, vol.41, issue.7, pp.1898-908, 2000. ,
Novel 2336-2337delCT mutation in RP1 gene in a japanese family with autosomal dominant retinitis pigmentosa, American Journal of Ophthalmology, vol.137, issue.6, pp.1137-1146, 2004. ,
DOI : 10.1016/j.ajo.2003.12.037
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa, Journal of Medical Genetics, vol.42, issue.5, pp.436-444, 2005. ,
DOI : 10.1136/jmg.2004.024281
Purification and crystallization of the N-terminal domain from the human doublecortin-like kinase, Acta Crystallographica Section D Biological Crystallography, vol.59, issue.3, pp.502-507, 2003. ,
DOI : 10.1107/S0907444903000027
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors, Invest Ophthalmol Vis Sci, vol.43, issue.1, pp.22-32, 2002. ,
RP1 Is Required for the Correct Stacking of Outer Segment Discs, Investigative Opthalmology & Visual Science, vol.44, issue.10, pp.4171-83, 2003. ,
DOI : 10.1167/iovs.03-0410
Gene-Targeted Mice Is Dependent on Genetic Background, Investigative Opthalmology & Visual Science, vol.50, issue.4, pp.1566-74, 2009. ,
DOI : 10.1167/iovs.08-2776
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele, The American Journal of Human Genetics, vol.61, issue.5, pp.1059-66, 1997. ,
DOI : 10.1086/301614
Unilateral Retinitis Pigmentosa Occurring in an Individual With a Germline Mutation in the <emph type="ital">RP1</emph> Gene, Archives of Ophthalmology, vol.129, issue.7, pp.954-960, 2011. ,
DOI : 10.1001/archophthalmol.2011.171
RP1 protein truncating mutations predominate at the RP1 adRP locus, Invest Ophthalmol Vis Sci, vol.41, issue.13, pp.4069-73, 2000. ,
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa, Nature Genetics, vol.22, issue.3, pp.248-54, 1999. ,
DOI : 10.1038/10305
Mutations in RP1 cause dominant retinitis pigmentosa via a dominant-negative mechanism, 2010. ,
in Three Consanguineous Pakistani Families, Investigative Opthalmology & Visual Science, vol.46, issue.7, pp.2264-70, 2005. ,
DOI : 10.1167/iovs.04-1280
mutations, Human Mutation, vol.419, issue.7, pp.644-53, 2006. ,
DOI : 10.1002/humu.20325
Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa, Mol Vis, vol.12, pp.177-83, 2006. ,
Gene (Arg677ter) Associated with Retinitis Pigmentosa, Investigative Opthalmology & Visual Science, vol.44, issue.8, pp.3593-3600, 2003. ,
DOI : 10.1167/iovs.03-0155
Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening, Investigative Opthalmology & Visual Science, vol.50, issue.9, pp.4065-71, 2009. ,
DOI : 10.1167/iovs.09-3479
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies, Human Mutation, vol.101, issue.1, pp.42-51, 2001. ,
DOI : 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa, Nature Genetics, vol.22, issue.3, pp.255-264, 1999. ,
DOI : 10.1038/10314
Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families, Investigative Opthalmology & Visual Science, vol.47, issue.7, pp.3052-64, 2006. ,
DOI : 10.1167/iovs.05-1443
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene, Mol Vis, vol.16, pp.467-75, 2010. ,
mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?, Investigative Opthalmology & Visual Science, vol.44, issue.10, pp.4204-4213, 2003. ,
DOI : 10.1167/iovs.03-0253
Mouse Model Resources for Vision Research, Journal of Ophthalmology, vol.11, issue.24, p.391384, 2011. ,
DOI : 10.1242/jcs.01301
Screening for mutations in a novel retinal-specific gene among Chinese patients with retinitis pigmentosa, Chin Med Sci J, vol.17, issue.4, pp.225-255, 2002. ,