{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:48:52Z","timestamp":1764172132294,"version":"build-2065373602"},"reference-count":18,"publisher":"Elsevier BV","issue":"11-12","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100000071","name":"NICHD","doi-asserted-by":"publisher","award":["R01-HD026202"],"award-info":[{"award-number":["R01-HD026202"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"NINDS","doi-asserted-by":"publisher","award":["R01-NS073854"],"award-info":[{"award-number":["R01-NS073854"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2014,11]]},"DOI":"10.1016\/j.ejmg.2014.08.009","type":"journal-article","created":{"date-parts":[[2014,9,16]],"date-time":"2014-09-16T03:31:32Z","timestamp":1410838292000},"page":"654-658","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["19q13.32 microdeletion syndrome: Three new cases"],"prefix":"10.1016","volume":"57","author":[{"given":"Angela","family":"Castillo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith H.","family":"Miles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara R.","family":"DuPont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5664-7987","authenticated-orcid":false,"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.08.009_bib1","doi-asserted-by":"crossref","first-page":"3686","DOI":"10.1093\/nar\/gkq1319","article-title":"Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish","volume":"39","author":"Anastasaki","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejmg.2014.08.009_bib2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1046\/j.1469-1809.2000.6430189.x","article-title":"2E4\/Kaptin (KPTN) \u2013 a candidate gene for the hearing loss locus, DFNA4","volume":"64","author":"Bearer","year":"2000","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.ejmg.2014.08.009_bib3","first-page":"35283","article-title":"A\u00a0novel germ cell-specific protein, SHIP1, forms a complex with chromatin remodeling activity during spermatogenesis","author":"Choi","year":"2008","journal-title":"J\u00a0BiolChem"},{"key":"10.1016\/j.ejmg.2014.08.009_bib4","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1038\/ejhg.2010.102","article-title":"Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C\/D box snoRNA cluster in Prader- Willi syndrome","volume":"18","author":"Duker","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.08.009_bib5","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1242\/dev.044750","article-title":"Mesodermal Wnt signaling organizes the neural plate via Meis3","volume":"137","author":"Elkouby","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2014.08.009_bib6","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/ejhg.2008.7","article-title":"Two patients with balanced translocation and autistic disorder: CSMD3as a candidate gene for autism found in their common 8q23 breakpoint area","volume":"16","author":"Floris","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.08.009_bib7","first-page":"1","article-title":"LMX1B is part of a transcriptional complex PSPC1 and PSF","author":"Hoekstra","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ejmg.2014.08.009_bib8","first-page":"1","article-title":"XMeis3 is necessary for mesodermal hox gene expression and function","volume":"28","author":"In der Rieden","year":"2011","journal-title":"PLoS"},{"key":"10.1016\/j.ejmg.2014.08.009_bib9","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.mam.2012.07.003","article-title":"The SLC8 family of sodium- calcium exchangers (NCX) \u2013 Structure, function, and regulation in health and disease","volume":"34","author":"Khananshvili","year":"2013","journal-title":"Mol Aspects Med"},{"key":"10.1016\/j.ejmg.2014.08.009_bib10","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1007\/s10517-012-1816-3","article-title":"Regional features of the expression of genes involved in neurogenesis and apoptosis in the brain of adult rats","author":"Kolobov","year":"2012","journal-title":"Bull Exp Biol Med"},{"key":"10.1016\/j.ejmg.2014.08.009_bib11","series-title":"Langman Medical Embryology","first-page":"95","author":"Langman","year":"2004"},{"key":"10.1016\/j.ejmg.2014.08.009_bib12","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ejmg.2008.09.007","article-title":"Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features","volume":"52","author":"Leal","year":"2009","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ejmg.2014.08.009_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0033542","article-title":"Gene expression profile of adult human olfactory bulb and embryonic neural stem cell suggest distinct signaling pathways and epigenetic control","volume":"7","author":"Marei","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ejmg.2014.08.009_bib14","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.08.009_bib15","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1093\/cercor\/bhr197","article-title":"Gene expression analysis of the embryonic subplate","volume":"22","author":"Oeschger","year":"2012","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.ejmg.2014.08.009_bib16","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1534\/g3.112.004689","article-title":"A\u00a0discovery resource of rare copy number variations in individuals with Autism Spectrum Disorder","volume":"12","author":"Prasad","year":"2012","journal-title":"G3 (Bethesda)"},{"key":"10.1016\/j.ejmg.2014.08.009_bib17","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0006-291X(03)01555-9","article-title":"A\u00a0novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a\u00a0candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1","volume":"309","author":"Shimizu","year":"2003","journal-title":"Biochem Biophys Res Commun (BBRC)"},{"key":"10.1016\/j.ejmg.2014.08.009_bib18","first-page":"1","article-title":"The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineage","volume":"169","author":"Zhong","year":"2011","journal-title":"BMC Evol Biol"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001694?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001694?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:21Z","timestamp":1761709281000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214001694"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":18,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S1769721214001694"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.08.009","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"19q13.32 microdeletion syndrome: Three new cases","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.08.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}