{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:13:41Z","timestamp":1745554421262,"version":"3.40.4"},"reference-count":2,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Res"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>The aim of this study was to detect chromosomal and molecular abnormalities in 16 Argentine families with retinoblastoma (RB). Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors was studied by segregation of polymorphisms within RB gene &lt;i&gt;(RB1)&lt;\/i&gt; and the DNA from chorionic villus by sequencing. The karyotype of an Rb236 bilateral patient with dismorphic signs revealed a deletion in 13q13\u201321. Polymorphism and exon analyses showed a deletion in the 3\u2032 end of &lt;i&gt;RB1&lt;\/i&gt; in an Rb72 patient. The mutant &lt;i&gt;RB1&lt;\/i&gt; allele, detected by loss of heterozygosity (LOH) in the tumor, was identified in 14 out of 18 tumors. The analysis of chorionic villus revealed a mutation, a C-to-T transition in exon 18. Molecular and cytogenetic analyses in families with RB offer valuable information on how to assess the risk of tumor development.<\/jats:p>","DOI":"10.1159\/000055690","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T19:06:20Z","timestamp":1050433580000},"page":"336-339","source":"Crossref","is-referenced-by-count":5,"title":["Detection of Mutations in Argentine Retinoblastoma Patients by Segregation of Polymorphisms, Exon Analysis and Cytogenetic Test"],"prefix":"10.1159","volume":"33","author":[{"given":"Viviana","family":"Dalamon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezequiel","family":"Surace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Borelina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Ziembar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Esperante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"Francipane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Davila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Parma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Szijan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2001,11,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1368"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.3.CO;2-A"}],"container-title":["Ophthalmic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/55690","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/55690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:41:24Z","timestamp":1745469684000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000055690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":2,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2001,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000055690","archive":["Portico"],"relation":{},"ISSN":["0030-3747","1423-0259"],"issn-type":[{"type":"print","value":"0030-3747"},{"type":"electronic","value":"1423-0259"}],"subject":[],"published":{"date-parts":[[2001]]}}}