{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T01:09:44Z","timestamp":1784941784624,"version":"3.55.0"},"reference-count":8,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.gene.2012.10.061","type":"journal-article","created":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T18:22:31Z","timestamp":1351794151000},"page":"453-455","source":"Crossref","is-referenced-by-count":13,"title":["Angelman syndrome and severe infections in a patient with de novo 15q11.2\u2013q13.1 deletion and maternally inherited 2q21.3 microdeletion"],"prefix":"10.1016","volume":"512","author":[{"given":"Gerda","family":"Neubert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"von Au","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Drossel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renate","family":"Nickel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M.","family":"Kaindl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2012.10.061_bb0005","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1038\/sj.mp.4001011","article-title":"Association between a GABRB3 polymorphism and autism","volume":"7","author":"Buxbaum","year":"2002","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.gene.2012.10.061_bb0010","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1002\/ajmg.a.32321","article-title":"Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive","volume":"146A","author":"Chiang","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2012.10.061_bb0015","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1159\/000328837","article-title":"Molecular and clinical aspects of Angelman syndrome","volume":"2","author":"Dagli","year":"2012","journal-title":"Mol. Syndr."},{"key":"10.1016\/j.gene.2012.10.061_bb0020","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1111\/j.1556-4029.2011.01901.x","article-title":"Sudden death and Angelman syndrome","volume":"57","author":"Herbst","year":"2012","journal-title":"J. Forensic Sci."},{"key":"10.1016\/j.gene.2012.10.061_bb0025","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.ajhg.2007.10.003","article-title":"Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene","volume":"82","author":"Kayser","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2012.10.061_bb0030","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng0197-70","article-title":"UBE3A\/E6-AP mutations cause Angelman syndrome","volume":"15","author":"Kishino","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2012.10.061_bb0035","doi-asserted-by":"crossref","first-page":"2533","DOI":"10.1093\/hmg\/ddl174","article-title":"A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity","volume":"15","author":"Urak","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2012.10.061_bb0040","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1097\/GIM.0b013e3181def138","article-title":"Clinical and genetic aspects of Angelman syndrome","volume":"12","author":"Williams","year":"2010","journal-title":"Genet. Med."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191201342X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191201342X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,6,26]],"date-time":"2023-06-26T13:50:29Z","timestamp":1687787429000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811191201342X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S037811191201342X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2012.10.061","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]}}}