{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:59:26Z","timestamp":1761101966125},"reference-count":114,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1998,5,1]],"date-time":"1998-05-01T00:00:00Z","timestamp":893980800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[1998,5]]},"DOI":"10.1038\/eye.1998.147","type":"journal-article","created":{"date-parts":[[2011,7,4]],"date-time":"2011-07-04T10:55:00Z","timestamp":1309776900000},"page":"571-579","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Molecular genetics of human retinal dystrophies"],"prefix":"10.1038","volume":"12","author":[{"given":"Chris F","family":"Inglehearn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFeye1998147_CR1","first-page":"139","volume":"3","author":"F Donders","year":"1857","unstructured":"Donders F . Beitraege zur pathologischen Anatomie des Auges. 2. Pigmentbildung in der Netzhaut. Arch Fr Ophtalmol 1857;3:139\u201365.","journal-title":"Arch Fr Ophtalmol"},{"key":"BFeye1998147_CR2","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/0002-9394(84)90636-6","volume":"97","author":"CH Bunker","year":"1984","unstructured":"Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH . Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 1984;97:357\u201365.","journal-title":"Am J Ophthalmol"},{"key":"BFeye1998147_CR3","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1136\/jmg.21.6.421","volume":"21","author":"S Bundey","year":"1984","unstructured":"Bundey S, Crews SJ . A study of retinitis pigmentosa in the City of Birmingham. II. Clinical and genetic heterogeneity. J Med Genet 1984;21:421\u20138.","journal-title":"J Med Genet"},{"key":"BFeye1998147_CR4","first-page":"5","volume":"28","author":"J Evans","year":"1996","unstructured":"Evans J, Rooney C, Ashwood F, Dattani N, Wormald R . Blindness and partial sight in England and Wales: April 1990-March 1991. Health Trends 1996;28:5\u201312.","journal-title":"Health Trends"},{"key":"BFeye1998147_CR5","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/ng0595-13","volume":"10","author":"MT Bassi","year":"1995","unstructured":"Bassi MT, Schiaffino MV, Renieri A, Denigris F, Galli L, Bruttini M, et al. Cloning of the gene for ocular albinism type-1 from the distal short arm of the X-chromosome. Nature Genet 1995;10:13\u20139.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR6","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/ng1097-164","volume":"17","author":"CG Sauer","year":"1997","unstructured":"Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genet 1997;17:164\u201370.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR7","first-page":"87","volume":"57","author":"RE McGuire","year":"1995","unstructured":"McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP . X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet 1995;57:87\u201394.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR8","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1073\/pnas.87.2.701","volume":"87","author":"J Ott","year":"1990","unstructured":"Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, et al. Localising multiple X-chromosome-linked retinitis-pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA 1990;87:701\u20134.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye1998147_CR9","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/ng0596-35","volume":"13","author":"A Meindl","year":"1996","unstructured":"Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, et al. A gene (RPGR) with homology to the RCC1 guanine-nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nature Genet 1996;13:35\u201342.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR10","first-page":"3702","volume":"38","author":"E Apfelstedt-Sylla","year":"1996","unstructured":"Apfelstedt-Sylla E, Meitinger T, Meindl A, Hermann B, Brandau O, Wissinger B, Engel C, Zrenner E . RPGR missense mutation in congenital stationary night blindness (CSNB). Invest Ophthalmol Vis Sci 1996;38:3702.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye1998147_CR11","first-page":"2750","volume":"38","author":"AJ Hardcastle","year":"1997","unstructured":"Hardcastle AJ, David-Gray Z, Thiselton DL, Jay M, Bird AC, Bhattacharya SS . Localisation of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Invest Ophthalmol Vis Soc 1997;38:2750\u20135.","journal-title":"Invest Ophthalmol Vis Soc"},{"key":"BFeye1998147_CR12","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1136\/bjo.78.2.103","volume":"78","author":"FM Meire","year":"1994","unstructured":"Meire FM, Bergen AAB, Derouck A, Leys M, Delleman JW . X-linked progressive cone dystrophy. Br J Ophthalmol 1994;78:103\u20138.","journal-title":"Br J Ophthalmol"},{"key":"BFeye1998147_CR13","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1086\/514884","volume":"61","author":"JJM Assink","year":"1997","unstructured":"Assink JJM, Tijmes NT, tenBrink JB, Oostra RJ, Riemslag EC, deJong PTVM, Bergen AAB . A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. Am J Hum Genet 1997;61:934\u20139.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR14","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/ng0692-199","volume":"1","author":"W Berger","year":"1992","unstructured":"Berger W, Meindl A, Vandepol TJR, Cremers FPM, Ropers HH, Doerner C, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genet 1992;1:199\u2013203.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR15","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/ng1093-180","volume":"5","author":"ZY Chen","year":"1993","unstructured":"Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW . A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nature Genet 1993;5:180\u20133.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR16","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1038\/309253a0","volume":"309","author":"SS Bhattacharya","year":"1984","unstructured":"Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CME, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 1984;309:253\u20135.","journal-title":"Nature"},{"key":"BFeye1998147_CR17","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/S0888-7543(05)80289-7","volume":"14","author":"MA Aldred","year":"1992","unstructured":"Aldred MA, Dry KL, Sharp DM, VanDorp DB, Brown J, Hardwick LJ, et al. Linkage analysis in X-linked congenital stationary night blindness. Genomics 1992;14:99\u2013104.","journal-title":"Genomics"},{"key":"BFeye1998147_CR18","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1136\/jmg.31.7.580","volume":"31","author":"AAB Bergen","year":"1994","unstructured":"Bergen AAB, Kestelyn P, Leys M, Meire F . Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. J Med Genet 1994;31:580\u20132.","journal-title":"J Med Genet"},{"key":"BFeye1998147_CR19","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1136\/jmg.30.12.1044","volume":"30","author":"IA Glass","year":"1993","unstructured":"Glass IA, Good P, Coleman MP, Fullwood P, Giles MG, Lindsay S, et al. Genetic mapping of a cone and rod dysfunction (Aland Island Eye Disease) to the proximal short arm of the human X-chromosome. J Med Genet 1993;30:1044\u201350.","journal-title":"J Med Genet"},{"key":"BFeye1998147_CR20","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1038\/347674a0","volume":"347","author":"FPM Cremers","year":"1990","unstructured":"Cremers FPM, VanDePol DJR, Vankerkhoff LPM, Wieringa B, Ropers HH . Cloning of a gene that is rearranged in patients with choroideremia. Nature 1990;347:674\u20137.","journal-title":"Nature"},{"key":"BFeye1998147_CR21","first-page":"20","volume":"47","author":"Y Shiloh","year":"1990","unstructured":"Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, et al. Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.1. Am J Hum Genet 1990;47:20\u20137.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR22","doi-asserted-by":"publisher","first-page":"1468","DOI":"10.1086\/515458","volume":"60","author":"AAB Bergen","year":"1997","unstructured":"Bergen AAB, Pinckers AJLG . Localisation of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. Am J Hum Genet 1997;60:1468\u201373.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR23","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1126\/science.2788922","volume":"245","author":"J Nathans","year":"1989","unstructured":"Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, et al. Molecular genetics of human blue cone monochromacy. Science 1989;245:831\u20138.","journal-title":"Science"},{"key":"BFeye1998147_CR24","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1038\/ng1097-194","volume":"17","author":"SM Gu","year":"1997","unstructured":"Gu SM, Thompson DA, Srikumari CRS, Lorenz B, Finckh U, Nicoletti A, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nature Genet 1997;17:194\u20137.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR25","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1038\/ng1097-139","volume":"17","author":"F Marlhens","year":"1997","unstructured":"Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliacou C, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nature Genet 1997;17:139\u201341.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR26","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1126\/science.277.5333.1805","volume":"277","author":"R Allikmets","year":"1997","unstructured":"Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805\u20137.","journal-title":"Science"},{"key":"BFeye1998147_CR27","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1038\/ng0397-236","volume":"15","author":"R Allikmets","year":"1997","unstructured":"Allikmets R, Singh N, Sun H, Shroyer NE, Hutchinson A, Chidambaram A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet 1997;15:236\u201346.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR28","first-page":"A330","volume":"61","author":"F Cremers","year":"1997","unstructured":"Cremers F, van de Pol D, Rozet JM, Gerber S, van Haren F, Tijmes N, et al. Linkage analysis in a family with pseudo-dominantly inherited cone-rod dystrophy and retinitis pigmentosa suggests that the defects reside in the Stargardt disease gene ABCR. Am J Hum Genet 1997;61:A330.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR29","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1093\/hmg\/5.8.1193","volume":"5","author":"SY Xu","year":"1996","unstructured":"Xu SY, Schwartz M, Rosenberg T, Gal A . A 9th locus (RP18) for autosomal dominant retinitis-pigmentosa maps in the pericentromeric region of chromosome. 1. Hum Mol Genet 1996;5:1193\u20137.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR30","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1006\/geno.1994.1422","volume":"22","author":"S van Soest","year":"1994","unstructured":"van Soest S, van den Born LI, Gal A, Farrar GJ, Bleekerwagemakers LM, et al. Assignment of a gene for autosomal recessive retinitis-pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 1994;22:499\u2013504.","journal-title":"Genomics"},{"key":"BFeye1998147_CR31","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/0888-7543(90)90546-7","volume":"7","author":"WJ Kimberling","year":"1990","unstructured":"Kimberling WJ, Weston MD, Moller C, Davenport SLH, Shugart YY, Priluck IA, et al. Localisation of Usher syndrome type-II to chromosome 1q. Genomics 1990;7:245\u20139.","journal-title":"Genomics"},{"key":"BFeye1998147_CR32","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1001\/archopht.1996.01100130187014","volume":"114","author":"E Heon","year":"1996","unstructured":"Heon E, Piguet B, Munier F, Sneed SR, Morgan CM, Forni S, et al. Linkage of autosomal dominant radial drusen (Malattia Leventinese) to chromosome 2p16-21. Arch Ophthalmol 1996;114:193\u20138.","journal-title":"Arch Ophthalmol"},{"key":"BFeye1998147_CR33","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1093\/hmg\/5.7.1055","volume":"5","author":"CY Gregory","year":"1996","unstructured":"Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, et al. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 1996;5:1055\u20139.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR34","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1093\/hmg\/6.5.689","volume":"6","author":"NC Arbour","year":"1997","unstructured":"Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997;6:689\u201394.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR35","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1038\/ng0795-360","volume":"10","author":"S Fuchs","year":"1995","unstructured":"Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A . A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nature Genet 1995;10:360\u20132.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR36","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1038\/ng0796-358","volume":"13","author":"TP Dryja","year":"1996","unstructured":"Dryja TP, Hahn LB, Reboul T, Arnaud B . Missense mutation in the gene encoding the alpha-subunit of rod transducin in the nougaret form of congenital stationary night blindness. Nature Genet 1996;13:358\u201360.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR37","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1038\/ng0997-65","volume":"17","author":"G David","year":"1997","unstructured":"David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet 1997;17:65\u201370.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR38","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1093\/hmg\/3.8.1331","volume":"3","author":"VC Sheffield","year":"1994","unstructured":"Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, et al. Identification of a Bardet Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 1994;3:1331\u20135.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR39","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/343364a0","volume":"343","author":"TP Dryja","year":"1990","unstructured":"Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, et al. A point mutation of rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364\u20136.","journal-title":"Nature"},{"key":"BFeye1998147_CR40","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/ng0692-209","volume":"1","author":"PJ Rosenfeld","year":"1992","unstructured":"Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP . A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet 1992;1:209\u201313.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR41","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1093\/hmg\/4.1.93","volume":"4","author":"EM Sankila","year":"1995","unstructured":"Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A . Assignment of an Usher Syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995;4:93\u20138.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR42","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1093\/hmg\/3.6.977","volume":"3","author":"H Eiberg","year":"1994","unstructured":"Eiberg H, Kjer B, Kjer P, Rosenberg T . Dominant optic atrophy (OPA1) mapped to chromosome 3q region. 1. Linkage analysis. Hum Mol Genet 1994;3:977\u201380.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR43","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng0693-130","volume":"4","author":"ME McLaughlin","year":"1993","unstructured":"McLaughlin ME, Sandberg MA, Berson EL, Dryja TP . Recessive mutations in the gene encoding the beta subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet 1993;4:130\u20134.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR44","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/ng1295-468","volume":"11","author":"SH Huang","year":"1995","unstructured":"Huang SH, Pittler SJ, Huang XH, Oliveira L, Berson EL, Dryja TP . Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nature Genet 1995;11:468\u201371.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR45","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1038\/365065a0","volume":"365","author":"D Sharp","year":"1993","unstructured":"Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wagersmith K, et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia. Nature 1993;365:65\u20139.","journal-title":"Nature"},{"key":"BFeye1998147_CR46","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1001\/archopht.1995.01100050139045","volume":"113","author":"DM Brown","year":"1995","unstructured":"Brown DM, Graemiger RA, Hergersberg M, Schinzel A, Messmer EP, Niemeyer G, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995;113:671\u20135.","journal-title":"Arch Ophthalmol"},{"key":"BFeye1998147_CR47","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/ng1295-468","volume":"11","author":"SH Huang","year":"1995","unstructured":"Huang SH, Pittler SJ, Huang XH, Oliveira L, Berson EL, Dryja TP . Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nature Genet 1995;11:468\u201371.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR48","doi-asserted-by":"publisher","first-page":"1401","DOI":"10.1093\/hmg\/3.8.1401","volume":"3","author":"JA Knowles","year":"1994","unstructured":"Knowles JA, Shugart Y, Banerjee P, Gilliam TC, Lewis CA, Jacobson SG, Ott J . Identification of a locus, distinct from rds-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum Mol Genet 1994;3:1401\u20133.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR49","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1038\/354480a0","volume":"354","author":"K Kajiwara","year":"1991","unstructured":"Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP . Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354:480\u20133.","journal-title":"Nature"},{"key":"BFeye1998147_CR50","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1038\/354478a0","volume":"354","author":"GJ Farrar","year":"1991","unstructured":"Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, et al. A 3-base-pair deletion in the peripherin-rds gene in one form of retinitis pigmentosa. Nature 1991;354:478\u201380.","journal-title":"Nature"},{"key":"BFeye1998147_CR51","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/ng0393-213","volume":"3","author":"J Wells","year":"1993","unstructured":"Wells J, Wroblewski J, Keen J, Inglehearn CF, Jubb C, Eckstein A, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet 1993;3:213\u20138.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR52","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1038\/ng0393-208","volume":"3","author":"K Kajiwara","year":"1993","unstructured":"Kajiwara K, Sandberg MA, Berson EL, Dryja TP . A null mutation in the human peripherin\/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet 1993;3:208\u201312.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR53","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1038\/ng0393-202","volume":"3","author":"BE Nichols","year":"1993","unstructured":"Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM . Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet 1993;3:202\u20137.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR54","doi-asserted-by":"publisher","first-page":"1604","DOI":"10.1126\/science.8202715","volume":"264","author":"K Kajiwara","year":"1994","unstructured":"Kajiwara K, Berson EL, Dryja TP . Digenic retinitis pigmentosa due to mutations at the unlinked peripherin\/ RDS and ROM1 loci. Science 1994;264:1604\u20138.","journal-title":"Science"},{"key":"BFeye1998147_CR55","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1001\/archopht.1994.01090180063036","volume":"112","author":"EM Stone","year":"1994","unstructured":"Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC . Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994;112:765\u201372.","journal-title":"Arch Ophthalmol"},{"key":"BFeye1998147_CR56","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1016\/0888-7543(92)90141-E","volume":"13","author":"KW Small","year":"1992","unstructured":"Small KW, Weber JL, Roses A, Lennon F, Vance JM, Pericak-Vance MA . North Carolina macular dystrophy is assigned to chromosome 6. Genomics 1992;13:681\u20135.","journal-title":"Genomics"},{"key":"BFeye1998147_CR57","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1093\/hmg\/4.9.1653","volume":"4","author":"RE Kelsell","year":"1995","unstructured":"Kelsell RE, Godley BF, Evans K, Tiffin PAC, Gregory CY, Plant C, et al. Localisation of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995;4:1653\u20136.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR58","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1093\/hmg\/3.2.299","volume":"3","author":"H Kremer","year":"1994","unstructured":"Kremer H, Pinckers A, Vandenhelm V, Deutman AF, Ropers HH, Mariman ECM . Localisation of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum Mol Genet 1994;3:299\u2013302.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR59","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1038\/ng0593-51","volume":"4","author":"CF Inglehearn","year":"1993","unstructured":"Inglehearn CF, Carter SA, Keen TJ, Lindsay J, Stephenson AM, Bashir R, et al. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nature Genet 1993;4:51\u20133.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR60","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1038\/ng0593-54","volume":"4","author":"SA Jordan","year":"1993","unstructured":"Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils DM, Kumarsingh R, et al. Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nature Genet 1993;4:54\u20138.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR61","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/0888-7543(91)90008-3","volume":"11","author":"SH Blanton","year":"1991","unstructured":"Blanton SH, Heckenlively JR, Cottingham AW, Freidman J, Sadler LA, Wagner M, et al. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics 1991;11:857\u201369.","journal-title":"Genomics"},{"key":"BFeye1998147_CR62","first-page":"1145","volume":"58","author":"RE Boissy","year":"1996","unstructured":"Boissy RE, Zhao HQ, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, et al. Mutation in and lack of expression of tyrosinase related protein 1 (TRP1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as OCA3. Am J Hum Genet 1996;58:1145\u201356.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR63","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1136\/bjo.81.3.207","volume":"81","author":"P Kenna","year":"1997","unstructured":"Kenna P, Mansergh F, Millington-Ward S, Erven A, KumarSingh R, Brennan R, et al. Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. Br J Ophthalmol 1997;81:207\u201313.","journal-title":"Br J Ophthalmol"},{"key":"BFeye1998147_CR64","doi-asserted-by":"publisher","first-page":"1689","DOI":"10.1093\/hmg\/5.10.1689","volume":"5","author":"S Wayne","year":"1996","unstructured":"Wayne S, Derkaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, et al. Localisation of the Usher syndrome type ID gene (USH1D) to chromosome 10. Hum Mol Genet 1996;5:1689\u201392.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR65","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1038\/ng1097-190","volume":"17","author":"GA Jansen","year":"1997","unstructured":"Jansen GA, Ferdinandusse S, Ijlst I, Muijsers AO, Skjedlal OH, Stokke O, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet 1997;17:190\u20133.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR66","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1038\/ng1097-185","volume":"17","author":"SJ Mihalik","year":"1997","unstructured":"Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ . Identification of PAHX, a Refsum disease gene. Nature Genet 1997;17:185\u20139.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR67","doi-asserted-by":"publisher","first-page":"3777","DOI":"10.1073\/pnas.85.11.3777","volume":"85","author":"V Ramesh","year":"1988","unstructured":"Ramesh V, McClatchey AI, Ramesh N, Benoit LA, Berson EL, Shih VE, Gusella JF . Molecular basis of ornithine amino-transferase deficiency in B-6-responsive and B-6-responsive forms of gyrate atrophy. Proc Natl Acad Sci USA 1988;85:3777\u201380.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye1998147_CR68","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1093\/hmg\/4.3.479","volume":"4","author":"R Fossdal","year":"1995","unstructured":"Fossdal R, Magnusson L, Weber JL, Jensson O . Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal-dominant inheritance, to chromosome 11p15. Hum Mol Genet 1995;4:479\u201383.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR69","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1016\/S0888-7543(05)80122-3","volume":"14","author":"RJH Smith","year":"1992","unstructured":"Smith RJH, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJB, et al. Localisation of 2 genes for Usher syndrome type-I to chromosome 11. Genomics 1992;14:995\u20131002.","journal-title":"Genomics"},{"key":"BFeye1998147_CR70","doi-asserted-by":"publisher","first-page":"1895","DOI":"10.1093\/hmg\/4.10.1895","volume":"4","author":"RA Bascom","year":"1995","unstructured":"Bascom RA, Liu L, Heckenlively JR, Stone EM, McLnnes RR . Mutation analysis of the ROM1 gene in retinitis pigmentosa. Hum Mol Genet 1995;4:1895\u2013902.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR71","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0792-246","volume":"1","author":"EM Stone","year":"1992","unstructured":"Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC . Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet 1992;1:246\u201350.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR72","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1038\/ng0594-108","volume":"7","author":"M Leppert","year":"1994","unstructured":"Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA . Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nature Genet 1994;7:108\u201312.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR73","first-page":"749","volume":"51","author":"Y Li","year":"1992","unstructured":"Li Y, Muller B, Fuhrmann C, Vannouhuys CE, Laqua H, Humphries P, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992;51:749\u201354.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR74","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1093\/hmg\/1.9.685","volume":"1","author":"EM Stone","year":"1992","unstructured":"Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC . Genetic linkage of autosomal dominant neovascular vitreoretinopathy to chromosome 11q13. Hum Mol Genet 1992;1:685\u20139.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR75","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/374060a0","volume":"374","author":"D Well","year":"1995","unstructured":"Well D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995;374:60\u20131.","journal-title":"Nature"},{"key":"BFeye1998147_CR76","first-page":"586","volume":"54","author":"R Gershonibaruch","year":"1994","unstructured":"Gershonibaruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA . Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethinic groups in Israel. Am J Hum Genet 1994;54:586\u201394.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR77","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/ng0297-175","volume":"15","author":"S Yamamoto","year":"1997","unstructured":"Yamamoto S, Sippel KC, Berson EL, Dryja TP . Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nature Genet 1997;15:175\u20138.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR78","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1001\/archopht.1994.01090180057035","volume":"112","author":"K Zhang","year":"1994","unstructured":"Zhang K, Bither PP, Park R, Donoso LA, Seidman JG, Siedman CF . A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34. Arch Ophthalmol 1994;112:759\u201364.","journal-title":"Arch Ophthalmol"},{"key":"BFeye1998147_CR79","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1016\/S0888-7543(05)80120-X","volume":"14","author":"J Kaplan","year":"1992","unstructured":"Kaplan J, Gerber S, Bonneau D, Rozet JM, Delrieu O, Briard ML, et al. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics 1992;14:979\u201387.","journal-title":"Genomics"},{"key":"BFeye1998147_CR80","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1056\/NEJM199402243300803","volume":"330","author":"ST Lee","year":"1994","unstructured":"Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA . Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader Willi syndrome plus albinism. N Engl J Med 1994;330:529\u201334.","journal-title":"N Engl J Med"},{"key":"BFeye1998147_CR81","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1093\/hmg\/4.1.9","volume":"4","author":"R Carmi","year":"1995","unstructured":"Carmi R, Rokhlina T, Kwiteblack AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC . Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995;4:9\u201313.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR82","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1038\/ng1097-198","volume":"17","author":"MA Maw","year":"1997","unstructured":"Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, et al. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nature Genet 1997;17:198\u2013200.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR83","unstructured":"Gal A . Presentation at symposium on Retinal Degenerations, Sendai, Japan, 1996."},{"key":"BFeye1998147_CR84","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1038\/ng1293-392","volume":"5","author":"AE Kwitekblack","year":"1993","unstructured":"Kwitekblack AE, Carmi R, Duyk GM, Buetovv KH, Elbedour K, Parvari R, et al. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet 1993;5:392\u20136.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR85","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1093\/hmg\/3.6.915","volume":"3","author":"J Greenberg","year":"1994","unstructured":"Greenberg J, Goliath R, Beighton P, Ramesar R . A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet 1994;3:915\u20138.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR86","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1093\/hmg\/5.5.705","volume":"5","author":"AJ Lotery","year":"1996","unstructured":"Lotery AJ, Ennis KT, Silvestri G, Nicholl S, McGibbon D, Collins AD, Hughes AE . Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. Hum Mol Genet 1996;5:705\u20138.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR87","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1006\/geno.1995.9876","volume":"30","author":"J Balciuniene","year":"1995","unstructured":"Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K . A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics 1995;30:281\u20136.","journal-title":"Genomics"},{"key":"BFeye1998147_CR88","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1093\/hmg\/6.4.597","volume":"6","author":"RE Kelsell","year":"1997","unstructured":"Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM . Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 1997;6:597\u2013600.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR89","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/ng1296-461","volume":"14","author":"I Perrault","year":"1996","unstructured":"Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, et al. Retinal specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet 1996;14:461\u20134.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR90","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1093\/hmg\/4.8.1459","volume":"4","author":"S Bardien","year":"1995","unstructured":"Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, et al. An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. Hum Mol Genet 1995;4:1459\u201362.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR91","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1093\/hmg\/6.4.563","volume":"6","author":"A Nystuen","year":"1997","unstructured":"Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonne-Tamir B, Mohrenweiser H, et al. Iraqi-Jewish kindreds wth optic atrophy plus 3-methylglutaconic aciduria type 3 demonstrate linkage disequilibrium with the CTG repeat in the 3\u2032 untranslated region of the myotonic dystrophy protein kinase gene. Hum Mol Genet 1997;6:563\u20139.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR92","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1038\/ng0294-210","volume":"6","author":"K Evans","year":"1994","unstructured":"Evans K, Fryer AF, Inglehearn CF, Duvall-Young J, Whittaker J, Gregory CY, et al. Genetic linkage of cone-rod dystrophy to chromosome 19q and evidence for segregation distortion. Nature Genet 1994;6:210\u20133.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR93","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1093\/hmg\/3.2.351","volume":"3","author":"M Al-Maghtheh","year":"1994","unstructured":"Al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 1994;3:351\u20134","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR94","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/ng0797-243","volume":"16","author":"LH Li","year":"1997","unstructured":"Li LH, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al. Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1. Nature Genet 1997;16:243\u201351.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR95","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1093\/hmg\/6.1.27","volume":"1","author":"H Chaib","year":"1997","unstructured":"Chaib H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, et al. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet 1997;1:27\u201331.","journal-title":"Hum Mol Genet"},{"key":"BFeye1998147_CR96","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1038\/ng1294-352","volume":"8","author":"BHF Weber","year":"1994","unstructured":"Weber BHF, Vogt G, Pruett RC, Stohr H, Felbor U . Mutations in the tissue inhibitor of met alloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet 1994;8:352\u20136.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR97","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/0888-7543(89)90031-1","volume":"5","author":"P McWilliam","year":"1989","unstructured":"McWilliam P, Farrar GJ, Kenna P, Bradley DC, Humphries MM, Sharp MM, et al. Autosomal dominant retinitis pigmentosa (ADRP): localisation of an ADRP gene to the long arm of chromosome 3. Genomics 1989;5:619\u201322.","journal-title":"Genomics"},{"key":"BFeye1998147_CR98","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/S1350-9462(96)00021-3","volume":"16","author":"A Gal","year":"1997","unstructured":"Gal A, Apfelstedt-Sylla E, Janecke AR, Zrenner E . Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Prog Ret Eye Res 1997;16:51\u201379.","journal-title":"Prog Ret Eye Res"},{"key":"BFeye1998147_CR99","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1007\/BF00143336","volume":"51","author":"RW Massof","year":"1981","unstructured":"Massof RW, Finkelstein D . Two forms of autosomal dominant primary retinitis pigmentosa. Doc Ophthalmol 1981;51:289\u2013346.","journal-title":"Doc Ophthalmol"},{"key":"BFeye1998147_CR100","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1136\/bjo.69.5.326","volume":"69","author":"AL Lyness","year":"1985","unstructured":"Lyness AL, Ernst W, Quinlan MP, Clover GM, Arden GB, Carter RM, et al. A clinical, psychophysical and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol 1985;69:326\u201339.","journal-title":"Br J Ophthalmol"},{"key":"BFeye1998147_CR101","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1136\/bjo.76.8.465","volume":"76","author":"AT Moore","year":"1992","unstructured":"Moore AT, Fitzke FW, Kemp CH, Arden GB, Keen TJ, Inglehearn CF, et al. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa. Br J Ophthalmol 1992;76:465\u20139.","journal-title":"Br J Ophthalmol"},{"key":"BFeye1998147_CR102","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5","volume":"8","author":"TJ Keen","year":"1996","unstructured":"Keen TJ, Inglehearn CF . Mutations and polymorphisms in the human peripherin\/RDS gene and their involvement in inherited retinal degeneration. Hum Mut 1996;8:297\u2013303.","journal-title":"Hum Mut"},{"key":"BFeye1998147_CR103","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.35.1.1","volume":"35","author":"CF Inglehearn","year":"1998","unstructured":"Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, Al-Maghtheh M, Vithana E, et al. A linkage survey of twenty dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity. J Med Genet 1998;35:1\u20135.","journal-title":"J Med Genet"},{"key":"BFeye1998147_CR104","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1006\/geno.1996.4528","volume":"40","author":"A Martinez-Mir","year":"1997","unstructured":"Martinez-Mir A, Bayes M, Vilageliu L, Grinberg D, Ayuso C, Del-Rio T, et al. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics 1997;40:142\u20136.","journal-title":"Genomics"},{"key":"BFeye1998147_CR105","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/ng0594-64","volume":"7","author":"A Gal","year":"1994","unstructured":"Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T . Heterozygous missense mutation in the rod cGMP phosphodiesterase beta subunit gene in autosomal dominant stationary night blindness. Nature Genet 1994;7:64\u20138.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR106","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1002\/ajmg.1320500107","volume":"50","author":"RJH Smith","year":"1994","unstructured":"Smith RJH, Berlin CI, Hejtmancik JF, Keats BJB, Kimberling WJ, Lewis RA, et al. Clinical diagnosis of the Usher syndromes. Am J Med Genet 1994;50:32\u20138.","journal-title":"Am J Med Genet"},{"key":"BFeye1998147_CR107","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/ng0697-188","volume":"16","author":"XZ Liu","year":"1997","unstructured":"Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel KP, Brown SDM . Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genet 1997;16:188\u201390.","journal-title":"Nature Genet"},{"key":"BFeye1998147_CR108","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/S0002-9297(07)64299-2","volume":"61","author":"MM Sohocki","year":"1997","unstructured":"Sohocki MM, Sullivan LS, Mintz-Hittner HA, Small K, Ferrell RE, Daiger SP . Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci. Am J Hum Genet 1997;61:239\u201341.","journal-title":"Am J Hum Genet"},{"key":"BFeye1998147_CR109","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/0896-6273(93)90072-Y","volume":"11","author":"GC Chang","year":"1993","unstructured":"Chang GC, Hao Y, Wong F, Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron 1993;11:595\u2013605.","journal-title":"Neuron"},{"key":"BFeye1998147_CR110","doi-asserted-by":"publisher","first-page":"7042","DOI":"10.1073\/pnas.93.14.7042","volume":"93","author":"J Chen","year":"1996","unstructured":"Chen J, Flannery JG, Lavail MM, Steinberg RHM, Xu J, Simon MI . Bcl-2 overexpression reduces apoptotic photoreceptor cell-death in 3 different retinal degenerations. Proc Natl Acad Sci USA 1996;93:7042\u20137.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFeye1998147_CR111","first-page":"943","volume":"38","author":"SH Tsang","year":"1997","unstructured":"Tsang SH, Chen J, Kjeldbye H, Li WS, Simon MI, Gouras P, Goff SP . Retarding photoreceptor degeneration in Pdeg (tm1)\/Pdeg(tm1) mice by an apoptosis suppressor gene. Invest Ophthalmol Vis Sci 1997;38:943\u201350.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFeye1998147_CR112","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1038\/nm0397-346","volume":"3","author":"F Hafezi","year":"1997","unstructured":"Hafezi F, Steinbach JP, Marti A, Munz K, Wang ZQ, Wagner EF, et al. The absence of c-fos prevents light-induced apoptotic cell death of photoreceptors in retinal degeneration in vivo. Nature Med 1997;3:346\u20139.","journal-title":"Nature Med"},{"key":"BFeye1998147_CR113","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1001\/archopht.1993.01090060049022","volume":"111","author":"EL Berson","year":"1993","unstructured":"Berson EL, Rosner B, Sandberg MA, Hayes KC, Nicholson BW, Weigeldifranco C, Willett W . A randomised trial of vitamin-A and vitamin-E supplementation for retinitis pigmentosa. Arch Ophthalmol 1993;111:761\u201372.","journal-title":"Arch Ophthalmol"},{"key":"BFeye1998147_CR114","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ng0995-27","volume":"11","author":"SG Jacobson","year":"1995","unstructured":"Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone, EM . Night blindness in Sorsby's fundus dystrophy reversed by vitamin-A. Nature Genet 1995;11:27\u201332.","journal-title":"Nature Genet"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye1998147.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye1998147","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye1998147.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:39:39Z","timestamp":1684431579000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye1998147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,5]]},"references-count":114,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1998,5]]}},"alternative-id":["BFeye1998147"],"URL":"https:\/\/doi.org\/10.1038\/eye.1998.147","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,5]]},"assertion":[{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}