{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T04:24:58Z","timestamp":1728015898267},"reference-count":14,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,3]]},"DOI":"10.7759\/cureus.70786","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T18:06:17Z","timestamp":1727978777000},"source":"Crossref","is-referenced-by-count":0,"title":["Multifocal Retinocytoma Associated With Intronic Acceptor Splice Site Variants in the RB1 Gene"],"prefix":"10.7759","author":[{"given":"Jennifer","family":"Li-Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Ch\u00e9vez-Barrios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica S","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy C","family":"Schefler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2022.963780","article-title":"Retinoblastoma: review and new insights","volume":"12","author":"Cruz-G\u00e1lvez CC","year":"2022","unstructured":"Cruz-G\u00e1lvez CC, Ordaz-Favila JC, Villar-Calvo VM, Cancino-Marentes ME, Bosch-Canto V. Retinoblastoma: review and new insights. Front Oncol. 2022, 12:963780. 10.3389\/fonc.2022.963780","journal-title":"Front Oncol"},{"key":"ref2","doi-asserted-by":"publisher","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 DE","year":"2013","unstructured":"Rushlow DE, Mol BM, Kennett JY, et al.. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013, 14:327-34. 10.1016\/S1470-2045(13)70045-7","journal-title":"Lancet Oncol"},{"key":"ref3","article-title":"Classification and staging of retinoblastoma","volume":"31","author":"Fabian ID","year":"2018","unstructured":"Fabian ID, Reddy A, Sagoo MS. Classification and staging of retinoblastoma. Community Eye Health. 2018, 31:11-3.","journal-title":"Community Eye Health"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1982.87","article-title":"Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?","volume":"45","author":"Gallie BL","year":"1982","unstructured":"Gallie BL, Ellsworth RM, Abramson DH, Phillips RA. Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?. Br J Cancer. 1982, 45:513-21. 10.1038\/bjc.1982.87","journal-title":"Br J Cancer"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.118.2.199","article-title":"Observations on 17 patients with retinocytoma","volume":"118","author":"Singh AD","year":"2000","unstructured":"Singh AD, Santos CM, Shields CL, Shields JA, Eagle RC Jr. Observations on 17 patients with retinocytoma. Arch Ophthalmol. 2000, 118:199-205. 10.1001\/archopht.118.2.199","journal-title":"Arch Ophthalmol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1177\/1120672106016002","article-title":"Retinocytoma associated with calcified vitreous deposits","volume":"16","author":"Hadjistilianou T","year":"2006","unstructured":"Hadjistilianou T, De Francesco S, Martone G, et al.. Retinocytoma associated with calcified vitreous deposits. Eur J Ophthalmol. 2006, 16:349-51. 10.1177\/1120672106016002","journal-title":"Eur J Ophthalmol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000000732","article-title":"Retinocytoma with vitreous seeding: new insights from enhanced depth imaging optical coherence tomography and high-resolution posterior segment ultrasonography","volume":"15","author":"Garoon RB","year":"2021","unstructured":"Garoon RB, Medina CA, Scelfo C, Harbour JW. Retinocytoma with vitreous seeding: new insights from enhanced depth imaging optical coherence tomography and high-resolution posterior segment ultrasonography. Retin Cases Brief Rep. 2021, 15:68-70. 10.1097\/ICB.0000000000000732","journal-title":"Retin Cases Brief Rep"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)71246-2","article-title":"Retinoma associated with vitreous seeding","volume":"119","author":"Lueder G","year":"1995","unstructured":"Lueder G, Heon E, Gallie B. Retinoma associated with vitreous seeding. Am J Ophthalmol. 1995, 119:522-3. 10.1016\/S0002-9394(14)71246-2","journal-title":"Am J Ophthalmol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4103\/0974-620X.83659","article-title":"Atypical retinocytoma with diffuse vitreous seeds: an insight","volume":"4","author":"Shah PK","year":"2011","unstructured":"Shah PK, Narendran V, Manayath GJ, Chowdhary S. Atypical retinocytoma with diffuse vitreous seeds: an insight. Oman J Ophthalmol. 2011, 4:81-3. 10.4103\/0974-620X.83659","journal-title":"Oman J Ophthalmol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(89)32714-x","article-title":"Malignant transformation of spontaneously regressed retinoblastoma, retinoma\/retinocytoma variant","volume":"96","author":"Eagle Jr RC","year":"1989","unstructured":"Eagle Jr RC, Shields JA, Donoso L, et al.. Malignant transformation of spontaneously regressed retinoblastoma, retinoma\/retinocytoma variant. Ophthalmology. 1989, 96:1389-95. 10.1016\/s0161-6420(89)32714-x","journal-title":"Ophthalmology"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1080\/02841860802342382","article-title":"Genomic differences between retinoma and retinoblastoma","volume":"47","author":"Sampieri K","year":"2008","unstructured":"Sampieri K, Mencarelli MA, Epistolato MC, et al.. Genomic differences between retinoma and retinoblastoma. Acta Oncol. 2008, 47:1483-92. 10.1080\/02841860802342382","journal-title":"Acta Oncol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0696-z","article-title":"Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships","volume":"65","author":"Rodr\u00edguez-Mart\u00edn C","year":"2020","unstructured":"Rodr\u00edguez-Mart\u00edn C, Robledo C, G\u00f3mez-Mariano G, et al.. Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships. J Hum Genet. 2020, 65:165-74. 10.1038\/s10038-019-0696-z","journal-title":"J Hum Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-19-2491","article-title":"Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12","volume":"80","author":"Meulemans L","year":"2020","unstructured":"Meulemans L, Mesman RL, Caputo SM, et al.. Skipping nonsense to maintain function: the paradigm of BRCA2 exon 12. Cancer Res. 2020, 80:1374-86. 10.1158\/0008-5472.CAN-19-2491","journal-title":"Cancer Res"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw094","article-title":"Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms","volume":"25","author":"de la Hoya M","year":"2016","unstructured":"de la Hoya M, Soukarieh O, L\u00f3pez-Perolio I, et al.. Combined genetic and splicing analysis of BRCA1 c.[594-2A&amp;gt;C; 641A&amp;gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016, 25:2256-68. 10.1093\/hmg\/ddw094","journal-title":"Hum Mol Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/283455-multifocal-retinocytoma-associated-with-intronic-acceptor-splice-site-variants-in-the-rb1-gene","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T18:06:20Z","timestamp":1727978780000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/283455-multifocal-retinocytoma-associated-with-intronic-acceptor-splice-site-variants-in-the-rb1-gene"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,3]]},"references-count":14,"URL":"https:\/\/doi.org\/10.7759\/cureus.70786","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,10,3]]}}}