{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:19:20Z","timestamp":1784902760545,"version":"3.55.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T00:00:00Z","timestamp":1391212800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,2]]},"DOI":"10.1016\/j.gene.2013.11.051","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:12:44Z","timestamp":1386202364000},"page":"213-216","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth"],"prefix":"10.1016","volume":"536","author":[{"given":"Marina","family":"Tarsitano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Ceglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Lombardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Pastore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gennaro","family":"Fioretti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Vicari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Antonietta","family":"Pisanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Friso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luigia","family":"Cavaliere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.gene.2013.11.051_bb0060","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1093\/hmg\/ddp042","article-title":"Identification of familial and de novo microduplications of 22q11.21\u2013q11.23 distal to the 22q11.21 microdeletion syndrome region","volume":"18","author":"Coppinger","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0075","doi-asserted-by":"crossref","first-page":"3279","DOI":"10.1210\/endo.137.8.8754751","article-title":"The combined action of two thyroidal proteases releases T4 from the dominant hormone-forming site of thyroglobulin","volume":"137","author":"Dunn","year":"1996","journal-title":"Endocrinology"},{"key":"10.1016\/j.gene.2013.11.051_bb0025","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1086\/378818","article-title":"Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients","volume":"73","author":"Ensenauer","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0080","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1002\/ajmg.1460","article-title":"Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3\u2013>p23.3 and a rearranged duplication of 8q24.13\u2013>qter","volume":"102","author":"Fan","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0050","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1002\/humu.20581","article-title":"Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization","volume":"28","author":"Fan","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.11.051_bb0040","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1136\/jmg.39.10.e62","article-title":"A novel atypical 22q11.2 distal deletion in father and son","volume":"39","author":"Garcia-Mi\u00f1aur","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0070","doi-asserted-by":"crossref","first-page":"11742","DOI":"10.1074\/jbc.274.17.11742","article-title":"Purification, cDNA cloning, and expression of a new human blood plasma glutamate carboxypeptidase homologous to N-acetyl-aspartyl-alphaglutamate carboxypeptidase\/prostate-specific membrane antigen","volume":"274","author":"Gingras","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.11.051_bb0065","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1073\/pnas.95.3.1010","article-title":"Mammalian DNA topoisomerase III-alpha is essential in early embryogenesis","volume":"95","author":"Li","year":"1998","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"1","key":"10.1016\/j.gene.2013.11.051_bb0035","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1755-8166-5-18","article-title":"Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?","volume":"5","author":"Li","year":"2012","journal-title":"Mol. Cytogenet."},{"key":"10.1016\/j.gene.2013.11.051_bb0010","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/GIM.0b013e31816b64c2","article-title":"Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes","volume":"10","author":"Ou","year":"2008","journal-title":"Genet. Med."},{"issue":"11","key":"10.1016\/j.gene.2013.11.051_bb0055","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.ejmg.2012.06.014","article-title":"An atypical 0.8Mb inherited duplication of 22q11.2 associated with psychomotor impairment","volume":"55","author":"Pebrel-Richard","year":"2012","journal-title":"Eur. J. Med. Genet."},{"issue":"2\u20133","key":"10.1016\/j.gene.2013.11.051_bb0015","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ejmg.2009.02.008","article-title":"Microduplication 22q11.2: a new chromosomal syndrome","volume":"52","author":"Portnoi","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0045","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.2004.030619","article-title":"Systematic assessment of atypical deletions reveals genotype\u2013phenotype correlation in 22q11.2","volume":"42","author":"Rauch","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0005","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1093\/hmg\/ddh041","article-title":"Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion","volume":"13","author":"Saitta","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0085","first-page":"141","article-title":"8q22\u2013>qter duplication in a child with multiple congenital malformations: case report","volume":"6","author":"Sasiadek","year":"2000","journal-title":"Med. Sci. Monit."},{"key":"10.1016\/j.gene.2013.11.051_bb0090","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/(SICI)1096-8628(19961002)65:1<36::AID-AJMG5>3.0.CO;2-W","article-title":"Interstitial duplication 8q22-q24: report of a case proven by FISH with mapped cosmid probes","volume":"65","author":"Wakui","year":"1996","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.gene.2013.11.051_bb0020","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ejmg.2008.07.005","article-title":"Clinical variability of the 22q11.2 duplication syndrome","volume":"51","author":"Wentzel","year":"2008","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.11.051_bb0030","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1086\/429841","article-title":"Microduplication and triplication of 22q11.2: a highly variable syndrome","volume":"76","author":"Yobb","year":"2005","journal-title":"Am. J. Hum. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913015771?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913015771?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,3]],"date-time":"2019-07-03T12:31:28Z","timestamp":1562157088000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913015771"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["S0378111913015771"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.11.051","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.11.051","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}