{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T02:29:05Z","timestamp":1791167345744,"version":"4.1.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,10,31]],"date-time":"2006-10-31T00:00:00Z","timestamp":1162252800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2007,1]]},"DOI":"10.1038\/sj.ejhg.5201730","type":"journal-article","created":{"date-parts":[[2006,10,31]],"date-time":"2006-10-31T11:58:48Z","timestamp":1162295928000},"page":"62-67","source":"Crossref","is-referenced-by-count":36,"title":["Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams\u2013Beuren locus"],"prefix":"10.1038","volume":"15","author":[{"given":"Claudia","family":"Torniero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo dalla","family":"Bernardina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Novara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Vetro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Darra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziano","family":"Pramparo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,10,31]]},"reference":[{"key":"BF5201730_CR1","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1101\/gr.3944605","volume":"15","author":"A Antonell","year":"2005","unstructured":"Antonell A, de Luis O, Domingo-Roura X, Perez-Jurado LA : Evolutionary mechanisms shaping the genomic structure syndrome chromosomal region at human 7q11.23. Genome Res 2005; 15: 1179\u20131188.","journal-title":"Genome Res"},{"key":"BF5201730_CR2","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1038\/ng753","volume":"29","author":"LR Osborne","year":"2001","unstructured":"Osborne LR, Li M, Pober B et al: A 1.5 million-base pair inversion polymorphism in families with Williams\u2013Beuren syndrome. Nat Genet 2001; 29: 321\u2013325.","journal-title":"Nat Genet"},{"key":"BF5201730_CR3","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1086\/376565","volume":"73","author":"M Bayes","year":"2003","unstructured":"Bayes M, Magano LF, Rivera N, Perez-Jurado LA : Mutational mechanisms of Williams\u2013Beuren syndrome deletions. Am J Hum Genet 2003; 73: 131\u2013151.","journal-title":"Am J Hum Genet"},{"key":"BF5201730_CR4","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1038\/sj.ejhg.5201597","volume":"14","author":"M Tassabehji","year":"2006","unstructured":"Tassabehji M, Donnai D : More or less? Segmental duplications and deletions in the Williams\u2013Beuren syndrome region provide new insights into language development. Eur J Hum Genet 2006; 14: 507\u2013508.","journal-title":"Eur J Hum Genet"},{"key":"BF5201730_CR5","doi-asserted-by":"publisher","first-page":"1694","DOI":"10.1056\/NEJMoa051962","volume":"353","author":"MJ Somerville","year":"2005","unstructured":"Somerville MJ, Mervis CB, Young EJ et al: Severe expressive-language delay related to duplication of the Williams\u2013Beuren locus. N Engl J Med 2005; 353: 1694\u20131701.","journal-title":"N Engl J Med"},{"key":"BF5201730_CR6","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/sj.ejhg.5201540","volume":"14","author":"M Kriek","year":"2006","unstructured":"Kriek M, White SJ, Szuhai K et al: Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and\/or congenital malformations, detection of reciprocal and partial Williams\u2013Beuren duplications. Eur J Hum Genet 2006; 14: 180\u2013189.","journal-title":"Eur J Hum Genet"},{"key":"BF5201730_CR7","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1007\/s00439-005-1324-x","volume":"117","author":"R Ciccone","year":"2005","unstructured":"Ciccone R, Giorda R, Gregato G et al: Reciprocal translocations: a trap for cytogenetists? Hum Genet 2005; 117: 571\u2013582.","journal-title":"Hum Genet"},{"key":"BF5201730_CR8","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1097\/01.wco.0000218228.73678.e1","volume":"19","author":"P Gressens","year":"2006","unstructured":"Gressens P : Pathogenesis of migration disorders. Curr Opin Neurol 2006; 19: 135\u2013140.","journal-title":"Curr Opin Neurol"},{"key":"BF5201730_CR9","doi-asserted-by":"publisher","first-page":"4146","DOI":"10.1523\/JNEUROSCI.0165-05.2005","volume":"25","author":"PM Thompson","year":"2005","unstructured":"Thompson PM, Lee AD, Dutton RA et al: Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. J Neurosci 2005; 25: 4146\u20134158.","journal-title":"J Neurosci"},{"key":"BF5201730_CR10","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1177\/08830738050200111401","volume":"20","author":"L Sztriha","year":"2005","unstructured":"Sztriha L, Gururaj A : Hippocampal dysgenesis associated with temporal lobe hypoplasia and arachnoid cyst of the middle cranial fossa. J Child Neurol 2005; 20: 926\u2013930.","journal-title":"J Child Neurol"},{"key":"BF5201730_CR11","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1002\/ajmg.a.10068","volume":"117","author":"M Zollino","year":"2003","unstructured":"Zollino M, Colosimo C, Zuffardi O et al: Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. Am J Med Genet A 2003; 117: 65\u201371.","journal-title":"Am J Med Genet A"},{"key":"BF5201730_CR12","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1212\/01.wnl.0000191393.06679.e9","volume":"66","author":"BS Chang","year":"2006","unstructured":"Chang BS, Apse KA, Caraballo R et al: A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology 2006; 66: 133\u2013135.","journal-title":"Neurology"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201730.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201730","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201730.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:37:28Z","timestamp":1684373848000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201730"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,31]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"alternative-id":["BF5201730"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201730","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,31]]}}}