{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T14:15:23Z","timestamp":1761920123533,"version":"build-2065373602"},"reference-count":24,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2016,5,1]],"date-time":"2016-05-01T00:00:00Z","timestamp":1462060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,5,1]],"date-time":"2016-05-01T00:00:00Z","timestamp":1462060800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2016,5]]},"DOI":"10.1016\/j.ejmg.2016.03.003","type":"journal-article","created":{"date-parts":[[2016,3,11]],"date-time":"2016-03-11T02:15:18Z","timestamp":1457662518000},"page":"278-282","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication"],"prefix":"10.1016","volume":"59","author":[{"given":"Roberta","family":"Milone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Valetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Valvo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Cioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4917-5253","authenticated-orcid":false,"given":"Federico","family":"Sicca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2016.03.003_bib1","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.gde.2013.02.015","article-title":"New insights into the genetic basis ot TAR (thrombocytopenia-absent radii) syndrome","volume":"23","author":"Albers","year":"2013","journal-title":"Curr. Opin. Genet. Dev."},{"issue":"1","key":"10.1016\/j.ejmg.2016.03.003_bib2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1177\/0883073810377658","article-title":"An emerging 1q21.1 deletion-associated neurodevelopmental phenotype","volume":"26","author":"Basel-Vanagaite","year":"2011","journal-title":"J.\u00a0Child. Neurol."},{"key":"10.1016\/j.ejmg.2016.03.003_bib3","first-page":"11","article-title":"Clinical phenotype of the recurrent 1q21.1 copy-number variant","author":"Bernier","year":"2015","journal-title":"Genet. Med."},{"issue":"12","key":"10.1016\/j.ejmg.2016.03.003_bib4","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/ng.279","article-title":"Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities","volume":"40","author":"Brunetti Pierri","year":"2008","journal-title":"Nat. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2016.03.003_bib5","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1038\/ng.3092","article-title":"Refining analyses of copy number variation identifies specific genes associated with developmental delay","volume":"46","author":"Coe","year":"2014","journal-title":"Nat. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2016.03.003_bib25","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.909","article-title":"A copy number variation morbidity map of developmental delay","volume":"43","author":"Cooper","year":"2011","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2016.03.003_bib7","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.ajhg.2012.07.016","article-title":"DUF1220-domain copy number implicated in human brain-size pathology and evolution","volume":"91","author":"Dumas","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2016.03.003_bib8","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1111\/epi.12767","article-title":"Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees","volume":"55","author":"Fanciulli","year":"2014","journal-title":"Epilepsia"},{"issue":"5","key":"10.1016\/j.ejmg.2016.03.003_bib9","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/jhg.2015.13","article-title":"A\u00a0case of autism spectrum disorder arising from a de novo missense mutation in POGZ","volume":"60","author":"Fukai","year":"2015","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.03.003_bib10","series-title":"GeneReviews\u00ae. Seattle (WA)","first-page":"1993","article-title":"1q21.1 microdeletion","author":"Haldeman-Englert","year":"2011"},{"issue":"3","key":"10.1016\/j.ejmg.2016.03.003_bib11","first-page":"e26","article-title":"1q21.1 duplication in patient 8 with Dravet syndrome","volume":"56","author":"Hartmann","year":"2015","journal-title":"Epilepsia"},{"issue":"9","key":"10.1016\/j.ejmg.2016.03.003_bib12","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky","year":"2011","journal-title":"Genet. Med."},{"issue":"5","key":"10.1016\/j.ejmg.2016.03.003_bib13","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.cell.2015.04.004","article-title":"Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions","volume":"161","author":"Lupi\u00e1\u00f1ez","year":"2015","journal-title":"Cell"},{"issue":"16","key":"10.1016\/j.ejmg.2016.03.003_bib14","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","article-title":"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes","volume":"359","author":"Mefford","year":"2008","journal-title":"N.\u00a0Engl. J. Med."},{"issue":"6","key":"10.1016\/j.ejmg.2016.03.003_bib15","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/ana.24178","article-title":"Copy number variation plays an important role in clinical epilepsy","volume":"75","author":"Olson","year":"2014","journal-title":"Ann. Neurol."},{"issue":"7","key":"10.1016\/j.ejmg.2016.03.003_bib16","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1038\/ejhg.2012.6","article-title":"Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes","volume":"20","author":"Rosenfeld","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2016.03.003_bib17","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/gim.2012.164","article-title":"Estimates of penetrance for recurrent pathogenic copy-number variations","volume":"15","author":"Rosenfeld","year":"2013","journal-title":"Genet. Med."},{"issue":"13","key":"10.1016\/j.ejmg.2016.03.003_bib18","doi-asserted-by":"crossref","first-page":"2596","DOI":"10.1038\/emboj.2011.166","article-title":"The DNA-binding domain of the Chd1 chromatin-remodelling enzyme contains SANT and SLIDE domains","volume":"30","author":"Ryan","year":"2011","journal-title":"EMBO J."},{"key":"10.1016\/j.ejmg.2016.03.003_bib19","doi-asserted-by":"crossref","DOI":"10.3892\/mmr.2015.4166","article-title":"1q21.1 microduplication in a patient with mental impairment and congenital heart defect","author":"Sun","year":"2015","journal-title":"Mol. Med. Rep."},{"key":"10.1016\/j.ejmg.2016.03.003_bib20","article-title":"CHD1L regulates cell cycle, apoptosis, and migration in glioma","author":"Sun","year":"2015","journal-title":"Cell. Mol. Neurobiol."},{"key":"10.1016\/j.ejmg.2016.03.003_bib21","unstructured":"UCSC genome Browser; http:\/\/genome.ucsc.edu\/."},{"issue":"7537","key":"10.1016\/j.ejmg.2016.03.003_bib22","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/nature14128","article-title":"Optogenetic control of organelle transport and positioning","volume":"518","author":"Van Bergeijk","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2016.03.003_bib23","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ejmg.2010.05.005","article-title":"Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions","volume":"53","author":"Velinov","year":"2010","journal-title":"Eur. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2016.03.003_bib24","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1159\/000431274","article-title":"Phenotypic variability associated with a large recurrent 1q21.1 microduplication in a three-generation family","volume":"6","author":"Verhagen","year":"2015","journal-title":"Mol. Syndromol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300350?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300350?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:11Z","timestamp":1761709391000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216300350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["S1769721216300350"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.03.003","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2016,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}