{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:49:44Z","timestamp":1777438184658,"version":"3.51.4"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,5,1]],"date-time":"2016-05-01T00:00:00Z","timestamp":1462060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,5,1]],"date-time":"2016-05-01T00:00:00Z","timestamp":1462060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1016\/j.exer.2016.04.002","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T02:54:39Z","timestamp":1460256879000},"page":"313-317","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["Genotype-phenotype correlation in the presentation of retinoblastoma among 149 patients"],"prefix":"10.1016","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3688-8676","authenticated-orcid":false,"given":"Shahar","family":"Frenkel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ofira","family":"Zloto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Sagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Avishag","family":"Fraenkel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Pe'er","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2016.04.002_bib1","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1016\/S0161-6420(01)00713-8","article-title":"Third (fourth and fifth) nonocular tumors in survivors of retinoblastoma","volume":"108","author":"Abramson","year":"2001","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2016.04.002_bib2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/bjo.2008.138750","article-title":"Incidence of retinoblastoma in the USA: 1975-2004","volume":"93","author":"Broaddus","year":"2009","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2016.04.002_bib3","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3109\/13816818909088346","article-title":"One hundred years of retinoblastoma research. From the clinic to the gene and back again","volume":"10","author":"Cowell","year":"1989","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"10.1016\/j.exer.2016.04.002_bib4","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/ijc.2910410405","article-title":"Non-ocular cancer in patients with hereditary retinoblastoma and their relatives","volume":"41","author":"DerKinderen","year":"1988","journal-title":"Int. J. Cancer"},{"key":"10.1016\/j.exer.2016.04.002_bib5","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1001\/archophthalmol.2011.292","article-title":"Outcomes of integrating genetics in management of patients with retinoblastoma","volume":"129","author":"Dhar","year":"2011","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.exer.2016.04.002_bib6","first-page":"91","article-title":"The search for the retinoblastoma cell of origin. Nature reviews","volume":"5","author":"Dyer","year":"2005","journal-title":"Cancer"},{"key":"10.1016\/j.exer.2016.04.002_bib7","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1093\/jnci\/85.14.1121","article-title":"Mortality from second tumors among long-term survivors of retinoblastoma","volume":"85","author":"Eng","year":"1993","journal-title":"J.\u00a0Natl. Cancer Inst."},{"key":"10.1016\/j.exer.2016.04.002_bib8","first-page":"545","article-title":"Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations","volume":"20","author":"He","year":"2014","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2016.04.002_bib9","first-page":"619","article-title":"Genotype-phenotype correlation analysis in retinoblastoma patients from India. Asian Pacific journal of cancer prevention","volume":"7","author":"Joseph","year":"2006","journal-title":"APJCP"},{"key":"10.1016\/j.exer.2016.04.002_bib10","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/bjc.2013.283","article-title":"Gene expression profiling identifies different sub-types of retinoblastoma","volume":"109","author":"Kapatai","year":"2013","journal-title":"Br. J. cancer"},{"key":"10.1016\/j.exer.2016.04.002_bib11","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1093\/jnci\/djk002","article-title":"Risk of soft tissue sarcomas by individual subtype in survivors of hereditary retinoblastoma","volume":"99","author":"Kleinerman","year":"2007","journal-title":"J.\u00a0Natl. Cancer Inst."},{"key":"10.1016\/j.exer.2016.04.002_bib12","doi-asserted-by":"crossref","first-page":"5116","DOI":"10.1073\/pnas.72.12.5116","article-title":"Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma","volume":"72","author":"Knudson","year":"1975","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.exer.2016.04.002_bib13","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ohc.2004.11.003","article-title":"Intraocular retinoblastoma: the case for a new group classification","volume":"18","author":"Linn Murphree","year":"2005","journal-title":"Ophthalmol. Clin. N. Am."},{"key":"10.1016\/j.exer.2016.04.002_bib14","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1056\/NEJMp1400788","article-title":"Genotype-phenotype correlation\u2013promiscuity in the era of next-generation sequencing","volume":"371","author":"Lu","year":"2014","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.exer.2016.04.002_bib15","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/S0165-4608(96)00387-1","article-title":"Genetics of retinoblastoma: a study","volume":"95","author":"Mateu","year":"1997","journal-title":"Cancer Genet. Cytogenet"},{"key":"10.1016\/j.exer.2016.04.002_bib16","series-title":"Retinoblastoma","first-page":"291","author":"Ramasubramanian","year":"2012"},{"key":"10.1016\/j.exer.2016.04.002_bib17","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1086\/345651","article-title":"Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma","volume":"72","author":"Richter","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2016.04.002_bib18","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1016\/S0161-6420(86)33629-7","article-title":"Unilateral vs. bilateral retinoblastoma. Correlations between age at diagnosis and stage of ocular disease","volume":"93","author":"Rubenfeld","year":"1986","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2016.04.002_bib19","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/S1470-2045(13)70045-7","article-title":"Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies","volume":"14","author":"Rushlow","year":"2013","journal-title":"Lancet. Oncol."},{"key":"10.1016\/j.exer.2016.04.002_bib20","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/S0161-6420(91)32283-8","article-title":"Retinoblastoma in older children","volume":"98","author":"Shields","year":"1991","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2016.04.002_bib21","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/humu.20443","article-title":"Genotype-phenotype correlations in hereditary familial retinoblastoma","volume":"28","author":"Taylor","year":"2007","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.exer.2016.04.002_bib22","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1136\/bjophthalmol-2012-302666","article-title":"Sporadic unilateral retinoblastoma or first sign of bilateral disease?","volume":"97","author":"Temming","year":"2013","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2016.04.002_bib23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00295569","article-title":"Genetics of retinoblastoma","volume":"52","author":"Vogel","year":"1979","journal-title":"Hum. Genet."},{"key":"10.1016\/j.exer.2016.04.002_bib24","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1001\/jama.1997.03550150066037","article-title":"Cancer incidence after retinoblastoma. Radiation dose and sarcoma risk","volume":"278","author":"Wong","year":"1997","journal-title":"JAMA"}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483516300665?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483516300665?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T05:00:03Z","timestamp":1757998803000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483516300665"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5]]},"references-count":24,"alternative-id":["S0014483516300665"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2016.04.002","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2016,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype-phenotype correlation in the presentation of retinoblastoma among 149 patients","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2016.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}