{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T09:22:52Z","timestamp":1770888172589,"version":"3.50.1"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1994,2,1]],"date-time":"1994-02-01T00:00:00Z","timestamp":760060800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1994,2]]},"DOI":"10.1038\/ng0294-210","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T21:06:03Z","timestamp":1092863163000},"page":"210-213","source":"Crossref","is-referenced-by-count":79,"title":["Genetic linkage of cone\u2013rod retinal dystrophy to chromosome 19q and evidence for segregation distortion"],"prefix":"10.1038","volume":"6","author":[{"given":"Kevin","family":"Evans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Fryer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Inglehearn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josephine","family":"Duvall-Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne L.","family":"Whittaker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl Y.","family":"Gregory","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Butler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil","family":"Ebenezer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David M.","family":"Hunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shomi","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFng0294210_CR1","first-page":"3","volume-title":"Pediatric Ophthalmology","author":"J Elston","year":"1992","unstructured":"Elston, J. Pediatric Ophthalmology (ed. D. Taylor) 3\u20136 (Blackwell Scientific Press, London, 1992)."},{"key":"BFng0294210_CR2","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1136\/jmg.29.5.289","volume":"29","author":"AT Moore","year":"1992","unstructured":"Moore, A.T. Cone and cone-rod dystrophies. J. med. Genet. 29, 289\u2013290 (1992).","journal-title":"J. med. Genet."},{"key":"BFng0294210_CR3","doi-asserted-by":"publisher","first-page":"1983","DOI":"10.1001\/archopht.1981.03930020859009","volume":"99","author":"JR Heckenlively","year":"1981","unstructured":"Heckenlively, J.R., Martin, D.A. & Rosales, T.O. Telangectasia and optic atrophy in cone-rod degenerations. Arch. Ophthalmol. 99, 1983\u20131991 (1981).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0294210_CR4","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1111\/j.1755-3768.1989.tb01864.x","volume":"67","author":"M Mantyjarvi","year":"1989","unstructured":"Mantyjarvi, M. & Tuppurainen, K. Progressive cone-rod dystrophy and high myopia in a Finnish family. Arch. Ophthatmol. Copenh. 67, 234\u2013242 (1989).","journal-title":"Arch. Ophthatmol. Copenh."},{"key":"BFng0294210_CR5","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1007\/BF00156432","volume":"68","author":"JR Heckenlively","year":"1988","unstructured":"Heckenlively, J.R., Foxman, S.G. & Parelhoff, E.S. Retinal dystrophy and macular coloboma. Doc. Ophthalmol. 68, 257\u2013271 (1988).","journal-title":"Doc. Ophthalmol."},{"key":"BFng0294210_CR6","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1136\/jnnp.19.3.186","volume":"19","author":"A Bjork","year":"1956","unstructured":"Bjork, A., Lindbau, U. & Wadensten, L. Retinal degenerations in hereditary ataxia. J. Neurol. Neurosurg. Psychiat. 19, 186\u2013193 (1956).","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"key":"BFng0294210_CR7","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1136\/jmg.25.11.738","volume":"25","author":"K Jalili","year":"1988","unstructured":"Jalili, K. & Smith, N.J.D. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. J. med. Genet. 25, 738\u2013740 (1988).","journal-title":"J. med. Genet."},{"key":"BFng0294210_CR8","first-page":"83","volume":"11","author":"D Samra","year":"1988","unstructured":"Samra, D., Abraham, F.A. & Treister, G. Inherited progressive cone-rod dystrophy and alopecia. Metab. Pediatr. Syst. Ophthalmol. 11, 83\u201385 (1988).","journal-title":"Metab. Pediatr. Syst. Ophthalmol."},{"key":"BFng0294210_CR9","first-page":"79","volume":"28","author":"JA Kylstra","year":"1993","unstructured":"Kylstra, J.A. & Aylsworth, A.S. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can. J. Ophthalmol. 28, 79\u201380 (1993).","journal-title":"Can. J. Ophthalmol."},{"key":"BFng0294210_CR10","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1136\/jmg.26.8.504","volume":"26","author":"IK Jalili","year":"1989","unstructured":"Jalili, I.K. Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomai recessive condition. J. med. Genet. 26, 504\u2013510 (1989).","journal-title":"J. med. Genet."},{"key":"BFng0294210_CR11","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1001\/archopht.1968.00980050070010","volume":"80","author":"EL Berson","year":"1968","unstructured":"Berson, E.L., Gouras, P. & Gunkel, R.D. Progressive cone-rod degenerations. Arch. Ophthalmol. 80, 68\u201376 (1968).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0294210_CR12","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1002\/humu.1380020403","volume":"2","author":"M Al-Maghtheh","year":"1993","unstructured":"Al-Maghtheh, M., Gregory, C., Inglehearn, C., Hardcastle, A. & Bhattacharya, S. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Hum. Mut. 2, 249\u2013255 (1993).","journal-title":"Hum. Mut."},{"key":"BFng0294210_CR13","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/ng0393-213","volume":"3","author":"J Wells","year":"1993","unstructured":"Wells, J. et al. Mutations in human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet. 3, 213\u2013218 (1993).","journal-title":"Nature Genet."},{"key":"BFng0294210_CR14","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0792-246","volume":"1","author":"ED Stone","year":"1992","unstructured":"Stone, E.D., Nichols, B.E., Streb, L.M., Kimura, A.E. & Sheffield, V.C. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet. 1, 246\u2013250 (1992).","journal-title":"Nature Genet."},{"key":"BFng0294210_CR15","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1002\/ajmg.1320080316","volume":"8","author":"RE Ferrell","year":"1981","unstructured":"Ferrell, R.E., Hittner, H.M. & Chakravarti, A. Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. Am. J. med. Genet. 8, 363\u2013369 (1981).","journal-title":"Am. J. med. Genet."},{"key":"BFng0294210_CR16","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1002\/ajmg.1320390309","volume":"39","author":"M Warburg","year":"1991","unstructured":"Warburg, M., Sj\u00f6, O. & Fledelius, H.C. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. Am. J. med. Genet. 39, 288\u2013293 (1991).","journal-title":"Am. J. med. Genet."},{"key":"BFng0294210_CR17","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1001\/archopht.1989.01070010719034","volume":"107","author":"K Yagasaki","year":"1989","unstructured":"Yagasaki, K. & Jacobson, S.G. Cone-rod dystrophy. Phenotypic diversity by retinal function testing. Arch. Ophthalmol. 107, 701\u2013708 (1989).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0294210_CR18","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1038\/359794a0","volume":"359","author":"J Weissenbach","year":"1992","unstructured":"Weissenbach, J. et al. A second generation linkage map of the human genome. Nature 359, 794\u2013801 (1992).","journal-title":"Nature"},{"key":"BFng0294210_CR19","doi-asserted-by":"crossref","unstructured":"NIH\/CEPH Collaborative mapping group. A comprehensive genetic linkage map of the human genome. Science 258, 67\u201386 (1992).","DOI":"10.1126\/science.1439770"},{"key":"BFng0294210_CR20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF00234530","volume":"35","author":"AE Krill","year":"1973","unstructured":"Krill, A.E., Deutman, A.F. & Fishman, M. The cone degenerations. Doc. Ophthalmol. 35, 1\u201380 (1973).","journal-title":"Doc. Ophthalmol."},{"key":"BFng0294210_CR21","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/0888-7543(92)90118-C","volume":"13","author":"G Jansen","year":"1992","unstructured":"Jansen, G. et al. Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Genomics 13, 509\u2013517 (1992).","journal-title":"Genomics"},{"key":"BFng0294210_CR22","first-page":"331","volume-title":"Retinal dystrophies end degenerations","author":"GE Lang","year":"1988","unstructured":"Lang, G.E. & Maumenee, I.H. Retinal dystrophies associated with storage diseases. Retinal dystrophies end degenerations (ed. D.A. Newsome) 331\u2013333 (Raven Press, New York, 1988)."},{"key":"BFng0294210_CR23","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/0002-9394(67)90577-6","volume":"63","author":"HM Burian","year":"1967","unstructured":"Burian, H.M. & Burns, C.A. Ocular changes in myotonic dystrophy. Am. J. Ophthalmol. 63, 22\u201334 (1967).","journal-title":"Am. J. Ophthalmol."},{"key":"BFng0294210_CR24","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/ng0393-191","volume":"3","author":"GH Travis","year":"1993","unstructured":"Travis, G.H. & Hepler, J.E. A medley of retinal dystrophies. Nature Genet. 3, 191\u2013192 (1993).","journal-title":"Nature Genet."},{"key":"BFng0294210_CR25","first-page":"60","volume-title":"Atlas of Macular Diseases","author":"JDM Gass","year":"1987","unstructured":"Gass, J.D.M., Atlas of Macular Diseases 60\u201391 (C.V. Mosby, St. Louis, 1987)."},{"key":"BFng0294210_CR26","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/ajmg.1320350307","volume":"35","author":"RE Magenis","year":"1990","unstructured":"Magenis, R.E. et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am. J. med. Genet. 35, 333\u2013349 (1990).","journal-title":"Am. J. med. Genet."},{"key":"BFng0294210_CR27","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1038\/ng0792-257","volume":"1","author":"RI Richards","year":"1992","unstructured":"Richards, R.I. et al. Evidence of founder chromosomes in fragile X syndrome. Nature Genet. 1, 257\u2013260 (1992).","journal-title":"Nature Genet."},{"key":"BFng0294210_CR28","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1146\/annurev.ge.25.120191.002455","volume":"25","author":"TW Lyttle","year":"1991","unstructured":"Lyttle, T.W. Segregation Distorters. A. Rev. Genet. 25, 511\u2013557 (1991).","journal-title":"A. Rev. Genet."},{"key":"BFng0294210_CR29","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1093\/genetics\/93.2.449","volume":"93","author":"Y Hiraizumi","year":"1979","unstructured":"Hiraizumi, Y. & Martin, D.W. On the models of segregation distortion in Drosophila melanogaster. Genetics 93, 423\u2013435 (1979).","journal-title":"Genetics"},{"key":"BFng0294210_CR30","first-page":"90","volume-title":"Proc. Symp. Immunogenetics of the H-2 system","author":"D Bennett","year":"1971","unstructured":"Bennett, D. & Dunn, L.C. Transmission ratio distorting genes on chromosome IX and their interactions. Proc. Symp. Immunogenetics of the H-2 system. (eds Lengerova, A. & Vojtiskova, M.) 90\u2013103 (Karger, Basel, 1971)."},{"key":"BFng0294210_CR31","first-page":"1305","volume":"34","author":"KW Small","year":"1993","unstructured":"Small, K.W. Genetic segregation distortion in MCDR1 (North Carolina macular dystrophy). Invest. Ophthalmol. Vis. Sci. (ARVO abstracts) 34, 1305 (1993).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFng0294210_CR32","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1126\/science.239.4839.487","volume":"239","author":"RK Saiki","year":"1988","unstructured":"Saiki, R.K. et al. Primer-directed enzymic amplification of DNA with a thermostable DNA polymerase. Science 239, 487\u2013491 (1988).","journal-title":"Science"},{"key":"BFng0294210_CR33","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1111\/j.1469-1809.1988.tb01103.x","volume":"52","author":"J Attwood","year":"1988","unstructured":"Attwood, J. & Bryant, S. A computer programme to make analysis with Liped and Linkage easier to perform and less prone to input errors. A. hum. Genet. 52, 259 (1988).","journal-title":"A. hum. Genet."},{"key":"BFng0294210_CR34","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multipoint linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443\u20133446 (1984).","journal-title":"Proc. natn. Acad. Sci. U.S.A."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0294-210","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0294-210.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0294-210.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:21:42Z","timestamp":1684441302000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0294-210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,2]]}},"alternative-id":["BFng0294210"],"URL":"https:\/\/doi.org\/10.1038\/ng0294-210","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2]]}}}