{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:13:49Z","timestamp":1791000829784,"version":"4.1.0"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"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":[[2017,6]]},"DOI":"10.1016\/j.gene.2017.03.025","type":"journal-article","created":{"date-parts":[[2017,3,21]],"date-time":"2017-03-21T09:20:14Z","timestamp":1490088014000},"page":"41-44","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"special_numbering":"C","title":["Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly \u2013 A case report"],"prefix":"10.1016","volume":"616","author":[{"given":"Dominik S.","family":"Westphal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Andres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten I.","family":"Beitzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Makowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Hoefele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2017.03.025_bb0005","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1016\/j.ejmg.2007.10.004","article-title":"A 6.9 Mb 1qter deletion\/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis","volume":"51","author":"Andrieux","year":"2008","journal-title":"Eur J. Med. Genet."},{"key":"10.1016\/j.gene.2017.03.025_bb0010","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/s00439-011-1073-y","article-title":"High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44","volume":"131","author":"Ballif","year":"2012","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2017.03.025_bb0015","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1016\/S0736-5748(97)00034-8","article-title":"C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain\/zinc finger protein preferentially expressed in brain","volume":"15","author":"Becker","year":"1997","journal-title":"Int. J. Dev. Neurosci."},{"key":"10.1016\/j.gene.2017.03.025_bb0020","doi-asserted-by":"publisher","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.gene.2017.03.025_bb0025","doi-asserted-by":"publisher","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.gene.2017.03.025_bb0030","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.ejmg.2010.04.001","article-title":"Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene","volume":"53","author":"Caliebe","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2017.03.025_bb0035","doi-asserted-by":"publisher","first-page":"292","DOI":"10.3345\/kjp.2014.57.6.292","article-title":"A chromosome 1q44 deletion in a 4-month-old girl; the first report in Korea","volume":"57","author":"Cho","year":"2014","journal-title":"Korean J. Pediatr."},{"key":"10.1016\/j.gene.2017.03.025_bb0040","doi-asserted-by":"publisher","first-page":"1869","DOI":"10.1128\/MCB.25.5.1869-1878.2005","article-title":"Role for AKT3\/protein kinase Bgamma in attainment of normal brain size","volume":"25","author":"Easton","year":"2005","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.gene.2017.03.025_bb0045","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1002\/ajmg.a.33330","article-title":"Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome","volume":"152A","author":"Filges","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2017.03.025_bb0050","doi-asserted-by":"publisher","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":"143A","author":"Hill","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2017.03.025_bb0055","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.1002\/ajmg.a.32275","article-title":"Two new cases of pure 1q terminal deletion presenting with brain malformations","volume":"146A","author":"Hiraki","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2017.03.025_bb0060","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001154","article-title":"Characterising and predicting haploinsufficiency in the human genome","volume":"6","author":"Huang","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.gene.2017.03.025_bb0065","doi-asserted-by":"crossref","first-page":"2655","DOI":"10.1002\/j.1460-2075.1992.tb05331.x","article-title":"Primary structure and binding activity of the hnRNP U protein: binding RNA through RGG box","volume":"11","author":"Kiledjian","year":"1992","journal-title":"EMBO J."},{"key":"10.1016\/j.gene.2017.03.025_bb0070","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1038\/ejhg.2013.249","article-title":"A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome","volume":"22","author":"de Munnik","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2017.03.025_bb0075","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1038\/ejhg.2011.171","article-title":"Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44","volume":"20","author":"Nagamani","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.gene.2017.03.025_bb0080","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1159\/000279261","article-title":"Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44","volume":"127","author":"Orellana","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.gene.2017.03.025_bb0085","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1002\/ajmg.a.35779","article-title":"Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions","volume":"161A","author":"Perlman","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2017.03.025_bb0090","doi-asserted-by":"publisher","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.gene.2017.03.025_bb0095","doi-asserted-by":"publisher","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":"143A","author":"Poot","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2017.03.025_bb0100","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1097\/GIM.0b013e3181484b49","article-title":"The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome","volume":"9","author":"Shaffer","year":"2007","journal-title":"Genet. Med."},{"key":"10.1016\/j.gene.2017.03.025_bb0105","doi-asserted-by":"publisher","first-page":"1633","DOI":"10.1002\/ajmg.a.35423","article-title":"Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures","volume":"158A","author":"Thierry","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2017.03.025_bb0110","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1038\/cdd.2011.144","article-title":"RP58\/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion","volume":"19","author":"Xiang","year":"2012","journal-title":"Cell Death Differ."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917301944?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917301944?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T21:15:30Z","timestamp":1568927730000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111917301944"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":22,"alternative-id":["S0378111917301944"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2017.03.025","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly \u2013 A case report","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2017.03.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}