{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T23:20:24Z","timestamp":1781220024073,"version":"3.54.1"},"reference-count":51,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2011]]},"abstract":"<jats:p>De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the &lt;i&gt;LNFG&lt;\/i&gt; gene that is an important regulator of &lt;i&gt;NOTCH&lt;\/i&gt; signaling. We suggest that this copy number variation has been a contributive factor to the occurrence of Asperger syndrome in this patient.<\/jats:p>","DOI":"10.1159\/000336191","type":"journal-article","created":{"date-parts":[[2012,2,10]],"date-time":"2012-02-10T08:36:19Z","timestamp":1328862979000},"page":"245-250","source":"Crossref","is-referenced-by-count":7,"title":["A 380-kb Duplication in 7p22.3 Encompassing the &lt;b&gt;&lt;i&gt;LFNG&lt;\/i&gt;&lt;\/b&gt; Gene in a Boy with Asperger Syndrome"],"prefix":"10.1159","volume":"2","author":[{"given":"A.T.","family":"Vulto-van Silfhout","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.P.M.","family":"de Brouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"de Leeuw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.C.","family":"Obihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.B.A.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,2,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0710156104"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186%2F1749-8104-4-36"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.tins.2005.05.003"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159%2F000331273"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1399-0004.2010.01496.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2005.10.131"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2009.03.010"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2F35103559"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1203%2FPDR.0b013e31819e7203"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.mp.4001896"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1086%2F422507"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2FS0896-6273%2800%2981172-1"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature07953"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.tibs.2006.08.005"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2894%2990545-2"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2FS0165-3806%2899%2900186-8"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mcn.2010.05.004"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fng764"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neuron.2011.05.015"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002%2Fglia.20643"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrn1847"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.bi.51.070182.004253"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature08494"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038%2F35019000"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2009.066852"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1242%2Fdev.034736"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.835"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1038%2F43191"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.555"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature09146"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2004.019000"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1086%2F302497"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1469-7610.2010.02307.x"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.neuron.2011.05.002"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1138659"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.brainres.2010.09.046"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1186%2F1756-0500-3-242"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.4161%2Fsgtp.1.2.13285"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1086%2F498879"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1016%2FS0070-2153%2810%2992004-8"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature07456"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1985"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1242%2Fdev.070318"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10803-008-0653-8"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.1007%2Fs11910-010-0104-8"},{"key":"ref46","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.712"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.b.30383"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1469-7610.1996.tb01458.x"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ijdevneu.2006.12.002"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1038%2Fnn1475"},{"key":"ref51","doi-asserted-by":"publisher","DOI":"10.1038%2F89455"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/336191","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/336191","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:05:06Z","timestamp":1745435106000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000336191"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":51,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2012,4,1]]},"published-print":{"date-parts":[[2012,4,27]]}},"URL":"https:\/\/doi.org\/10.1159\/000336191","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}