{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:52:48Z","timestamp":1791035568561,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T00:00:00Z","timestamp":1277942400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"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":[[2010,7]]},"DOI":"10.1016\/j.ejmg.2010.04.001","type":"journal-article","created":{"date-parts":[[2010,4,10]],"date-time":"2010-04-10T04:41:50Z","timestamp":1270874510000},"page":"179-185","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440\u00a0Mb deletion in region 1q44 containing the HNRPU gene"],"prefix":"10.1016","volume":"53","author":[{"given":"Almuth","family":"Caliebe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 I.","family":"Martin-Subero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"T\u00f6nnies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruben","family":"van \u2019t Slot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rutger A.J.","family":"Nievelstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiltrud","family":"Muhle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Stephani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Alfke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Stefanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yorck","family":"Hellenbroich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron","family":"Hochstenbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiner","family":"Siebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Poot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2010.04.001_bib1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/ajmg.a.30695","article-title":"Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype","volume":"135","author":"van Bever","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2010.04.001_bib2","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1007\/s004390000268","article-title":"Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH","volume":"106","author":"Bezrookove","year":"2000","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib3","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1086\/519999","article-title":"Mapping of deletion and translocation breakpoints in 1q44 implicates the serine\/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum","volume":"81","author":"Boland","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib4","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1136\/jmg.2007.055830","article-title":"Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis\/hypogenesis","volume":"45","author":"van Bon","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib5","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1038\/sj.ejhg.5201899","article-title":"Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3\u00a0Mb in a patient with Wolf\u2013Hirschhorn syndrome","volume":"15","author":"Flipsen-ten Berg","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib6","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ajmg.a.10018","article-title":"FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications","volume":"117","author":"Gentile","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"issue":"R1","key":"10.1016\/j.ejmg.2010.04.001_bib7","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1093\/hmg\/ddp011","article-title":"Copy number variants, diseases and gene expression","volume":"18","author":"Henrichsen","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib8","doi-asserted-by":"crossref","first-page":"1692","DOI":"10.1002\/ajmg.a.31776","article-title":"A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome","volume":"143","author":"Hill","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib9","first-page":"167","article-title":"Distal deletion of the long arm of chromosome number 1 (q43\u00a0\u2192\u00a0qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome","volume":"35","author":"Ioan","year":"1992","journal-title":"Ann. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib10","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1002\/ajmg.1320220405","article-title":"Deletion of the distal long arm of chromosome 1: a definable syndrome","volume":"22","author":"Johnson","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib11","series-title":"FISH Technology","first-page":"73","article-title":"FISH on chromosome preparations of peripheral blood","author":"Liehr","year":"2002"},{"key":"10.1016\/j.ejmg.2010.04.001_bib12","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/ajmg.1320280215","article-title":"A specific syndrome due to deletion of the distal long arm of chromosome 1","volume":"28","author":"Meinecke","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib13","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1086\/506371","article-title":"Submicroscopic deletion in patients with Williams\u2013Beuren syndrome influences expression levels of the nonhemizygous flanking genes","volume":"79","author":"Merla","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib14","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/ajmg.a.31611","article-title":"Delineation of the cryptic 1qter deletion phenotype","volume":"143","author":"Merritt","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2010.04.001_bib15","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1002\/ajmg.a.31690","article-title":"Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)","volume":"143","author":"Poot","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2010.04.001_bib16","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ejmg.2007.08.003","article-title":"Proportional growth retardation and oculocutaneous albinism in a girl with a 7.4 Mb deletion of region 15q26.2\u00a0\u2192\u00a0qter","volume":"50","author":"Poot","year":"2007","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib17","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.ejmg.2008.07.001","article-title":"AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions","volume":"51","author":"Poot","year":"2008","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.04.001_bib18","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s11248-004-8147-8","article-title":"Hypomorphic mutation in hnRNPU results in post-implantation lethality","volume":"14","author":"Roshon","year":"2005","journal-title":"Transgenic Res."},{"key":"10.1016\/j.ejmg.2010.04.001_bib19","series-title":"Diagnostic Cytogenetics","first-page":"151","article-title":"Classical and molecular cytogenetics of tumor cells","author":"Schlegelberger","year":"1999"},{"key":"10.1016\/j.ejmg.2010.04.001_bib20","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.38.3.175","article-title":"Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?","volume":"38","author":"de Vries","year":"2001","journal-title":"J.\u00a0Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210000364?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210000364?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:04Z","timestamp":1761709024000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721210000364"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,7]]}},"alternative-id":["S1769721210000364"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.04.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2010,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440\u00a0Mb deletion in region 1q44 containing the HNRPU gene","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.04.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}