Foundation Voir et Entendre and BQR, Foundation Fighting Blindness (IA, FFB Grant # CD-CL- 0808-0466-CHNO and the CIC503 recognized as an FFB center, Ville de Paris and region Ile de France ,
UMR_S 968, Department of Genetics, Institut de la Vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, p.75012 ,
9 Department of Celular Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER) ,
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
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene, Progress in Retinal and Eye Research, vol.27, issue.2, pp.213-235, 2008. ,
DOI : 10.1016/j.preteyeres.2008.01.002
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene, Progress in Retinal and Eye Research, vol.28, issue.3, pp.187-205, 2009. ,
DOI : 10.1016/j.preteyeres.2009.04.002
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP) ,
) gene, Allikmets R: Genotyping microarray (gene chip) for the ABCR (ABCA4) gene, pp.395-403, 2003. ,
DOI : 10.1002/humu.10263
Genotyping Microarray for CSNB-Associated Genes, Investigative Opthalmology & Visual Science, vol.50, issue.12, pp.5919-5926, 2009. ,
DOI : 10.1167/iovs.09-3548
Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa, The American Journal of Human Genetics, vol.84, issue.3, pp.380-387, 2009. ,
DOI : 10.1016/j.ajhg.2009.02.005
) Associated with Autosomal Recessive Retinitis Pigmentosa, Investigative Opthalmology & Visual Science, vol.50, issue.4, pp.1864-1872, 2009. ,
DOI : 10.1167/iovs.08-2497
FP: Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa ,
Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa, The American Journal of Human Genetics, vol.86, issue.5, pp.783-788, 2010. ,
DOI : 10.1016/j.ajhg.2010.03.016
Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa, The American Journal of Human Genetics, vol.87, issue.2, pp.199-208, 2010. ,
DOI : 10.1016/j.ajhg.2010.07.004
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family, Mol Vis, vol.17, pp.1598-1606, 2011. ,
EYS is a major gene for rod-cone dystrophies in France, Human Mutation, vol.31, issue.5, pp.1406-1435, 2010. ,
DOI : 10.1002/humu.21249
URL : https://hal.archives-ouvertes.fr/hal-00552377
Novel C2orf71 mutations account for ???1% of cases in a large French arRP cohort, Human Mutation, vol.32, issue.4, pp.2091-2103, 2011. ,
DOI : 10.1002/humu.21460
URL : https://hal.archives-ouvertes.fr/hal-00613916
Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod???Cone Dystrophy Patients, Investigative Opthalmology & Visual Science, vol.51, issue.7, pp.3687-3700, 2010. ,
DOI : 10.1167/iovs.09-4766
URL : https://hal.archives-ouvertes.fr/inserm-00472460
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports, BMC Medical Genetics, vol.12, issue.10, p.145, 2010. ,
DOI : 10.1038/ejhg.2008.223
URL : https://hal.archives-ouvertes.fr/inserm-00668443
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation, Human Mutation, vol.42, issue.1, pp.73-80, 2012. ,
DOI : 10.1002/humu.21640
URL : https://hal.archives-ouvertes.fr/inserm-00640066
Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing, Investigative Opthalmology & Visual Science, vol.52, issue.1, pp.494-503, 2011. ,
DOI : 10.1167/iovs.10-6180
mRNA in Patients with Autosomal Dominant Retinitis Pigmentosa: A Molecular Clue for Incomplete Penetrance?, Investigative Opthalmology & Visual Science, vol.44, issue.10, pp.4204-4209, 2003. ,
DOI : 10.1167/iovs.03-0253
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.1059-1066, 1997. ,
DOI : 10.1086/301614
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13, Mol Cell, vol.4, issue.8, pp.375-381, 2001. ,
Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families carrying Mutations in PRPF8, Invest Ophthalmol Vis Sci, 2011. ,
Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans, The American Journal of Human Genetics, vol.85, issue.5, pp.711-719, 2009. ,
DOI : 10.1016/j.ajhg.2009.10.003
Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness, The American Journal of Human Genetics, vol.85, issue.5, pp.730-736, 2009. ,
DOI : 10.1016/j.ajhg.2009.10.012
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness, The American Journal of Human Genetics, vol.85, issue.5, pp.720-729, 2009. ,
DOI : 10.1016/j.ajhg.2009.10.013
TRPM1 mutations are associated with the complete form of congenital stationary night blindness, Mol Vis, vol.16, pp.425-437, 2010. ,
Complement Factor H Polymorphism in Age-Related Macular Degeneration, Science, vol.308, issue.5720, pp.385-389, 2005. ,
DOI : 10.1126/science.1109557
Complement Factor H Polymorphism and Age-Related Macular Degeneration, Science, vol.308, issue.5720, pp.421-424, 2005. ,
DOI : 10.1126/science.1110189
Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration, Science, vol.308, issue.5720, pp.419-421, 2005. ,
DOI : 10.1126/science.1110359
Factor H and the pathogenesis of renal diseases, Pediatric Nephrology, vol.14, issue.10-11, pp.1045-1053, 2000. ,
DOI : 10.1007/s004670050069
The spectrum of phenotypes caused by variants in the CFH gene, Molecular Immunology, vol.46, issue.8-9, pp.1573-1594, 2009. ,
DOI : 10.1016/j.molimm.2009.02.013
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene, Mol Vis, vol.9, pp.129-137, 2003. ,
Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy, The American Journal of Human Genetics, vol.87, issue.3, pp.424-429, 2010. ,
DOI : 10.1016/j.ajhg.2010.08.009
The molecular basis of human retinal and vitreoretinal diseases, Progress in Retinal and Eye Research, vol.29, issue.5, pp.335-375, 2010. ,
DOI : 10.1016/j.preteyeres.2010.03.004
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.467-475, 2010. ,
Annexin A2 promotes choroidal neovascularization by increasing vascular endothelial growth factor expression in a rat model of argon laser coagulation-induced choroidal neovascularization, Chin Med J (Engl), vol.123, pp.713-721, 2010. ,
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome, The American Journal of Human Genetics, vol.83, issue.2, pp.170-179, 2008. ,
DOI : 10.1016/j.ajhg.2008.06.023
BMP7 and SHH regulate Pax2 in mouse retinal astrocytes by relieving TLX repression, Developmental Biology, vol.332, issue.2, pp.429-443, 2009. ,
DOI : 10.1016/j.ydbio.2009.05.579
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome, The American Journal of Human Genetics, vol.72, issue.5, pp.1187-1199, 2003. ,
DOI : 10.1086/375178
URL : https://hal.archives-ouvertes.fr/hal-00174595
Dissection of epistasis in oligogenic Bardet???Biedl syndrome, Nature, vol.97, issue.7074, pp.326-330, 2006. ,
DOI : 10.1038/nature04370
Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man, Cell, vol.104, issue.2, pp.205-215, 2001. ,
DOI : 10.1016/S0092-8674(01)00206-9
A review of the ocular manifestations, Ophthalmic Genetics, vol.47, issue.3, pp.161-173, 1997. ,
DOI : 10.1038/ki.1992.95
Mutations in the type IV collagen ??3 (COL4A3) gene in autosomal recessive Alport syndrome, Human Molecular Genetics, vol.3, issue.8, pp.1269-1273, 1994. ,
DOI : 10.1093/hmg/3.8.1269
Autosomal dominant Alport syndrome linked to the type IV collage ??3 and ??4 genes (COL4A3 and COL4A4), Nephrology Dialysis Transplantation, vol.12, issue.8, pp.1595-1599, 1997. ,
DOI : 10.1093/ndt/12.8.1595
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome, Human Molecular Genetics, vol.3, issue.2, pp.317-322, 1994. ,
DOI : 10.1093/hmg/3.2.317
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21, Human Molecular Genetics, vol.6, issue.4, pp.641-647, 1997. ,
DOI : 10.1093/hmg/6.4.641
Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor, Human Molecular Genetics, vol.12, issue.4, pp.365-373, 2003. ,
DOI : 10.1093/hmg/ddg035
Degeneration of Cone Photoreceptors Induced by Expression of the Mas1 Protooncogene, Experimental Neurology, vol.163, issue.1, pp.207-219, 2000. ,
DOI : 10.1006/exnr.2000.7370
Genomic Organization of the Human Myocilin Gene (MYOC) Responsible for Primary Open Angle Glaucoma (GLC1A), Biochemical and Biophysical Research Communications, vol.242, issue.2, pp.396-400, 1998. ,
DOI : 10.1006/bbrc.1997.7972
BETA2/ NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration, J Neurosci, vol.23, pp.453-461, 2003. ,
Expression of nitric oxide synthase-2 (NOS-2) in reactive astrocytes of the human glaucomatous optic nerve head, Glia, vol.813, issue.2, pp.178-186, 2000. ,
DOI : 10.1002/(SICI)1098-1136(200004)30:2<178::AID-GLIA7>3.0.CO;2-C
Identification and characterization of rod-derived cone viability factor, Nature Genetics, vol.124, issue.7, pp.755-759, 2004. ,
DOI : 10.1093/nar/25.17.3389
URL : https://hal.archives-ouvertes.fr/inserm-00312378
Rod-derived Cone Viability Factor-2 is a novel bifunctional-thioredoxin-like protein with therapeutic potential, BMC Molecular Biology, vol.8, issue.1, p.74, 2007. ,
DOI : 10.1186/1471-2199-8-74
URL : https://hal.archives-ouvertes.fr/hal-00188911
Expressions of rod and cone photoreceptor-like proteins in human epidermis, Experimental Dermatology, vol.127, issue.6, pp.567-570, 2009. ,
DOI : 10.1111/j.1600-0625.2009.00851.x
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin, Science, vol.295, issue.5557, pp.1077-1079, 2002. ,
DOI : 10.1126/science.1066901
Pias3-Dependent SUMOylation Directs Rod Photoreceptor Development, Neuron, vol.61, issue.2, pp.234-246, 2009. ,
DOI : 10.1016/j.neuron.2008.12.006
URL : http://doi.org/10.1016/j.neuron.2008.12.006
Review of Genetics in Age Related Macular Degeneration, Seminars in Ophthalmology, vol.37, issue.4, pp.229-240, 2007. ,
DOI : 10.1016/j.ajo.2004.05.025
Retinoid-related orphan nuclear receptor ROR?? is an early-acting factor in rod photoreceptor development, Proceedings of the National Academy of Sciences, vol.106, issue.41, pp.17534-17539, 2009. ,
DOI : 10.1073/pnas.0902425106
Altered visual function in monocarboxylate transporter 3 (Slc16a8) knockout mice, AJP: Cell Physiology, vol.295, issue.2, pp.451-457, 2008. ,
DOI : 10.1152/ajpcell.00124.2008
A thyroid hormone receptor that is required for the development of green cone photoreceptors, Nat Genet, vol.27, pp.94-98, 2001. ,
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes, Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes, pp.619-625, 2010. ,
DOI : 10.1038/ng.594
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome, The American Journal of Human Genetics, vol.80, issue.1, pp.186-194, 2007. ,
DOI : 10.1086/510499
The homeobox gene CHX10/VSX2 regulates RdCVF promoter activity in the inner retina, Human Molecular Genetics, vol.19, issue.2, pp.250-261, 2010. ,
DOI : 10.1093/hmg/ddp484
URL : https://hal.archives-ouvertes.fr/inserm-00465889
The disruption of the rod-derived cone viability gene leads to photoreceptor dysfunction and susceptibility to oxidative stress, Cell Death and Differentiation, vol.12, issue.7, pp.1199-1210, 2010. ,
DOI : 10.1023/A:1001869212639
URL : https://hal.archives-ouvertes.fr/inserm-00465893
XIAP Protection of Photoreceptors in Animal Models of Retinitis Pigmentosa, PLoS ONE, vol.7, issue.3, p.314, 2007. ,
DOI : 10.1371/journal.pone.0000314.g004
Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa, Human Molecular Genetics, vol.11, issue.1, pp.87-92, 2002. ,
DOI : 10.1093/hmg/11.1.87
Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa, The American Journal of Human Genetics, vol.81, issue.1, pp.147-157, 2007. ,
DOI : 10.1086/518426
Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population, Investigative Opthalmology & Visual Science, vol.51, issue.9, pp.4387-4394, 2010. ,
DOI : 10.1167/iovs.09-4732
mutations in inherited retinal dystrophies, CRB1 mutations in inherited retinal dystrophies, pp.306-315, 2011. ,
DOI : 10.1002/humu.21653
URL : https://hal.archives-ouvertes.fr/inserm-00640122
A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration, The American Journal of Human Genetics, vol.67, issue.4, pp.800-813, 2000. ,
DOI : 10.1086/303090
Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?, American Journal of Ophthalmology, vol.131, issue.6, pp.761-766, 2001. ,
DOI : 10.1016/S0002-9394(01)00838-8
Development and application of a nextgeneration-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases, Orphanet Journal of Rare Diseases, vol.7, issue.8, 2012. ,