{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:35:20Z","timestamp":1770903320282,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,11,18]],"date-time":"2009-11-18T00:00:00Z","timestamp":1258502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study, the breakpoints of six large intragenic deletions in the <jats:italic>NF2<\/jats:italic> gene are determined, which had initially been detected by multiplex ligation\u2010dependent probe amplification. While one breakpoint occurred within an exon, the remaining 11 lied in the corresponding flanking introns. Two of the deletions were most likely caused by nonallelic homologous recombination between <jats:italic>Alu<\/jats:italic> sequences, while the other four appeared to be the result of nonhomologous endjoining, possibly facilitated by rearrangement\u2010promoting elements at the junctions in some cases. The clinical features of patients with large intragenic deletions and individuals with mutations affecting single or multiple nucleotides of the <jats:italic>NF2<\/jats:italic> gene are relatively similar. However, patients with deletions of the 3\u2032 exons 15 and 16 of the <jats:italic>NF2<\/jats:italic> gene did exhibit milder phenotypes, especially with respect to the age of disease onset. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20733","type":"journal-article","created":{"date-parts":[[2009,11,19]],"date-time":"2009-11-19T00:10:27Z","timestamp":1258589427000},"page":"171-175","source":"Crossref","is-referenced-by-count":17,"title":["Large intragenic deletions of the <i>NF2<\/i> gene: Breakpoints and associated phenotypes"],"prefix":"10.1002","volume":"49","author":[{"given":"Benjamin","family":"Abo\u2010Dalo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Kutsche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Mautner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Kluwe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,11,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10254"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20393"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029504"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0294-185"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.271"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-16"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.12.841"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<228::AID-AJMG8>3.0.CO;2-L"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20138"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6139"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.165.4.7676998"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006123-199605000-00004"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520411"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/363515a0"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90406-G"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(87)90154-5"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016774"},{"key":"e_1_2_5_20_1","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1016\/S0021-9258(19)68148-2","article-title":"Specific sequences in native DNA that arrest synthesis by DNA polymerase alpha","volume":"25","author":"Weaver DT","year":"1982","journal-title":"J Biol Chem"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20733","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T00:01:52Z","timestamp":1697500912000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,18]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/gcc.20733"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20733","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,18]]}}}