{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:45:59Z","timestamp":1791071159049,"version":"4.1.0"},"reference-count":7,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Submicroscopic deletions of 1q44\u2013qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo\/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the &lt;i&gt;ADSS &lt;\/i&gt;gene), and the last deleted oligonucleotide at 243.791 Mb (within the &lt;i&gt;KIF26B&lt;\/i&gt; gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the &lt;i&gt;AKT3&lt;\/i&gt; or &lt;i&gt;ZNF238&lt;\/i&gt; genes in corpus callosum development.<\/jats:p>","DOI":"10.1159\/000279261","type":"journal-article","created":{"date-parts":[[2010,3,12]],"date-time":"2010-03-12T08:27:55Z","timestamp":1268382475000},"page":"5-8","source":"Crossref","is-referenced-by-count":30,"title":["Corpus Callosum Abnormalities and the Controversy about the Candidate Genes Located in 1q44"],"prefix":"10.1159","volume":"127","author":[{"given":"C.","family":"Orellana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Rosell\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Monfort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Oltra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Quiroga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,1,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1086%2F519999"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1098119"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.345"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.31690"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2008.07.001"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1242%2Fdev.01864"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2007.055830"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/279261","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/279261","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:08:02Z","timestamp":1745442482000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000279261"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2010,3,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000279261","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009]]}}}