{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T14:14:21Z","timestamp":1758636861825},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2000,3,1]],"date-time":"2000-03-01T00:00:00Z","timestamp":951868800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eye"],"published-print":{"date-parts":[[2000,3]]},"DOI":"10.1038\/eye.2000.48","type":"journal-article","created":{"date-parts":[[2011,7,4]],"date-time":"2011-07-04T10:35:36Z","timestamp":1309775736000},"page":"172-175","source":"Crossref","is-referenced-by-count":3,"title":["Linkage analysis in an autosomal dominant \u2018zonular nuclear pulverulent\u2019 congenital cataract, mapped to chromosome 13q11-13"],"prefix":"10.1038","volume":"14","author":[{"given":"Patrick","family":"Watts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Rees","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angus","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyn","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Lane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J","family":"Owen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathon","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFeye200048_CR1","first-page":"545","volume":"48","author":"LM James","year":"1993","unstructured":"James LM, McClearon AB, Waters GD . Congenital malformation surveillance data for birth defects prevention: Metropolitan Atlanta congenital defects program (MACDP) 1968-1991 and birth defects monitoring program (BDMP) 1970-1991. Tetralogy 1993;48:545\u2013709.","journal-title":"Tetralogy"},{"key":"BFeye200048_CR2","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1136\/jech.42.1.17","volume":"42","author":"SL Stewart-Brown","year":"1988","unstructured":"Stewart-Brown SL, Haslum MN . Partial sight and blindness in children of the 1970 birth cohort at 10 years of age. J Epidemiol Community Health 1988;42:17\u201323.","journal-title":"J Epidemiol Community Health"},{"key":"BFeye200048_CR3","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1159\/000309186","volume":"184","author":"J Francois","year":"1982","unstructured":"Francois J . Genetics of cataract. Ophthalmologica (Basel) 1982;184:61\u201371.","journal-title":"Ophthalmologica (Basel)"},{"key":"BFeye200048_CR4","unstructured":"Merin S . Inherited cataracts. In: Merin S, editor. Inherited eye disease: diagnosis and clinical management. New York: Marcel Dekker, 1991:86\u2013120."},{"key":"BFeye200048_CR5","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/S0039-6257(96)82011-X","volume":"40","author":"SR Lambert","year":"1996","unstructured":"Lambert SR, Drack AV . Infantile cataracts. Surv Ophthalmol 1996;40:427\u201358.","journal-title":"Surv Ophthalmol"},{"key":"BFeye200048_CR6","first-page":"191","volume":"26","author":"E Nettleship","year":"1906","unstructured":"Nettleship E, Ogilvie FM . A peculiar form of hereditary congenital cataract. Trans Ophthalmol Soc UK 1906;26:191\u2013207.","journal-title":"Trans Ophthalmol Soc UK"},{"key":"BFeye200048_CR7","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1111\/j.1755-3768.1989.tb00745.x","volume":"67","author":"E Marner","year":"1989","unstructured":"Marner E, Rosenberg T, Eiberg H . Autosomal dominant congenital cataract: morphology and genetic mapping. Acta Ophthalmol (Copenh) 1989;67:151\u20138.","journal-title":"Acta Ophthalmol (Copenh)"},{"key":"BFeye200048_CR8","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1006\/geno.1996.0395","volume":"35","author":"P Kramer","year":"1996","unstructured":"Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrein E, Maumenee I, Litt M . A second gene for cerulean cataracts maps to the l3-crystallin region on chromosome 22. Genomics 1996;35:539\u201342.","journal-title":"Genomics"},{"key":"BFeye200048_CR9","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1086\/301774","volume":"62","author":"JF Hejtmancik","year":"1998","unstructured":"Hejtmancik JF . The genetics of cataract: our vision becomes clearer. Am J Hum Genet 1998;62:520\u20135.","journal-title":"Am J Hum Genet"},{"key":"BFeye200048_CR10","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1093\/hmg\/3.2.279","volume":"3","author":"RH Brakenhoff","year":"1994","unstructured":"Brakenhoff RH, Henskens HAM, van Rossum MWPC, Lubsen NH, Schonmakers JGG . Activation of y-E-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet 1994;3:279\u201383.","journal-title":"Hum Mol Genet"},{"key":"BFeye200048_CR11","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1093\/hmg\/6.5.665","volume":"6","author":"M Litt","year":"1997","unstructured":"Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kraemer P, et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human l3-crystallin gene CRYBB2. Hum Mol Genet 1997;6:665\u20138.","journal-title":"Hum Mol Genet"},{"key":"BFeye200048_CR12","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1038\/ng0195-37","volume":"9","author":"MM Armitage","year":"1995","unstructured":"Armitage MM, Kivilin JD, Ferell RE . A progressively early onset cataract gene maps to human chromosome 17q24. Nature Genet 1995;9:37\u201340.","journal-title":"Nature Genet"},{"key":"BFeye200048_CR13","first-page":"840","volume":"57","author":"T Padma","year":"1995","unstructured":"Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, et al. Autosomal dominant zonular cataract with sutural opacities localised to chromosome 17ql1-12. Am J Hum Genet 1995;57:840\u20135.","journal-title":"Am J Hum Genet"},{"key":"BFeye200048_CR14","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1086\/301762","volume":"62","author":"A Shiels","year":"1998","unstructured":"Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S . A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant \u2018zonular pulverulent\u2019 cataract on chromosome lq. Am J Hum Genet 1998;62;526\u201332.","journal-title":"Am J Hum Genet"},{"key":"BFeye200048_CR15","doi-asserted-by":"publisher","first-page":"1357","DOI":"10.1086\/302383","volume":"64","author":"D Mackay","year":"1999","unstructured":"Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, et al. Connexin 46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999;64:1357\u201364.","journal-title":"Am J Hum Genet"},{"key":"BFeye200048_CR16","first-page":"252","volume":"53","author":"RW Cottingham","year":"1993","unstructured":"Cottingham RW, Idury RM, Schaffer AA . Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252\u201363.","journal-title":"Am J Hum Genet"},{"key":"BFeye200048_CR17","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/ng1295-402","volume":"11","author":"JR O'Connell","year":"1995","unstructured":"O'Connell JR, Weeks DE . The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nature Genet 1995;11:402\u20138.","journal-title":"Nature Genet"},{"key":"BFeye200048_CR18","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1159\/000130957","volume":"22","author":"PM Conneally","year":"1978","unstructured":"Conneally PM, Wilson AF, Merritt AD, Helveston EM, Palmer CG, Wang LY . Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. Cytogenet Cell Genet 1978;22:295\u20137.","journal-title":"Cytogenet Cell Genet"},{"key":"BFeye200048_CR19","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1111\/j.1399-0004.1992.tb03634.x","volume":"41","author":"AM Lund","year":"1992","unstructured":"Lund AM, Eiberg H, Rosenberg T, Warburg M . Autosomal dominant cataract: linkage relations; clinical and genetic heterogeneity. Clin Genet 1992;41:65\u20139.","journal-title":"Clin Genet"},{"key":"BFeye200048_CR20","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1016\/S0161-6420(94)31246-2","volume":"101","author":"MH Scott","year":"1994","unstructured":"Scott MH, Hejtmancik JF, Wozencraft LA, Reuter LM, Parks MM, Kaiser-Kupfer MI . Autosomal dominant congenital cataract: interocular phenotypic variability. Ophthalmology 1994;101:866\u201371.","journal-title":"Ophthalmology"},{"key":"BFeye200048_CR21","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/BF00214183","volume":"96","author":"H Eiberg","year":"1995","unstructured":"Eiberg H, Lund AM, Warburg M, Rosenberg T . Assignment of congenital cataract Volkmann type (CCV) to chromosome Ip36. Hum Genet 1995;96:33\u20138.","journal-title":"Hum Genet"},{"key":"BFeye200048_CR22","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1086\/515468","volume":"60","author":"D Mackay","year":"1997","unstructured":"Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A . A new locus for dominant \u2018zonular pulverulent\u2019 cataract, on chromosome 13. Am J Hum Genet 1997;60:1474\u20138.","journal-title":"Am J Hum Genet"},{"key":"BFeye200048_CR23","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1083\/jcb.143.3.815","volume":"143","author":"TW White","year":"1998","unstructured":"White TW, Goodenough DA, Paul DL . Targeted ablation of connexin 50 in mice results in microphthalmia and zonular pulverulent cataracts. J Cell Biol 1998;143:815\u201325.","journal-title":"J Cell Biol"},{"key":"BFeye200048_CR24","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1152\/physrev.1997.77.1.21","volume":"77","author":"RT Mathias","year":"1997","unstructured":"Mathias RT, Rae JL, Baldo GJ . Physiological properties of the normal lens. Physiol Rev 1997;77:21\u201350.","journal-title":"Physiol Rev"},{"key":"BFeye200048_CR25","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1111\/j.1469-1809.1963.tb00782.x","volume":"27","author":"JH Renwick","year":"1963","unstructured":"Renwick JH, Lawler SD . Probable linkage of a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet 1963;27:67\u201384.","journal-title":"Ann Hum Genet"},{"key":"BFeye200048_CR26","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1093\/hmg\/6.1.47","volume":"6","author":"ACW Ionides","year":"1997","unstructured":"Ionides ACW, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A . A locus for autosomal dominant posterior polar cataract on chromosome lp. Hum Mol Genet 1997;6:47\u201351.","journal-title":"Hum Mol Genet"},{"key":"BFeye200048_CR27","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1093\/hmg\/5.5.699","volume":"5","author":"EI Rogaev","year":"1996","unstructured":"Rogaev EI, Rogaev EA, Korovaitseva GI, Farrer LA, Petrin AN, Keryanov SA, et al. Linkage of polymorphic congenital cataract to the y-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet 1996;5:699\u2013703.","journal-title":"Hum Mol Genet"},{"key":"BFeye200048_CR28","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1111\/j.1399-0004.1988.tb02875.x","volume":"34","author":"H Eiberg","year":"1988","unstructured":"Eiberg H, Marner E, Rosenberg T, Mohr J . Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet 1988;34:272\u20135.","journal-title":"Clin Genet"},{"key":"BFeye200048_CR29","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1093\/hmg\/5.3.415","volume":"5","author":"V Berry","year":"1996","unstructured":"Berry V, Ionides ACW, Moore AT, Plant C, Bhattacharya SS, Shiels A . A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet 1996;5:415\u20139.","journal-title":"Hum Mol Genet"}],"container-title":["Eye"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/eye200048.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye200048","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/eye200048.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:59:39Z","timestamp":1684429179000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/eye200048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,3]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2000,3]]}},"alternative-id":["BFeye200048"],"URL":"https:\/\/doi.org\/10.1038\/eye.2000.48","relation":{},"ISSN":["0950-222X","1476-5454"],"issn-type":[{"value":"0950-222X","type":"print"},{"value":"1476-5454","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,3]]}}}