{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T06:49:40Z","timestamp":1789454980788,"version":"build-2803163510"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T00:00:00Z","timestamp":1084838400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2004,6]]},"DOI":"10.1007\/s10038-004-0145-4","type":"journal-article","created":{"date-parts":[[2004,5,17]],"date-time":"2004-05-17T07:55:10Z","timestamp":1084780510000},"page":"308-311","source":"Crossref","is-referenced-by-count":133,"title":["The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene"],"prefix":"10.1038","volume":"49","author":[{"given":"Kavita","family":"Bhalla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilary A.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia L. D.","family":"McKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Mulley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Eyre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison E.","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Kremmidiotis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David F.","family":"Callen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,5,18]]},"reference":[{"key":"145_CR1","first-page":"219","volume":"33","author":"Callen","year":"1990","unstructured":"Callen DF, Baker E, Eyre HJ, Chernos JE, Bell JA, Sutherland GR (1990) Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting. Ann Genet 33:219\u2013221","journal-title":"Ann Genet"},{"key":"145_CR2","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1006\/geno.1995.9005","volume":"29","author":"Callen","year":"1995","unstructured":"Callen DF, Lane SA, Kozman H, Kremmidiotis G, Whitmore SA, Lowenstein M, Doggett NA, Kenmochi N, Page DC, Maglott DR et al (1995) Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a \u201chot spot\u201d for recombination at 16p12. Genomics 29:503\u2013511","journal-title":"Genomics"},{"key":"145_CR3","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1007\/s00412-002-0203-7","volume":"111","author":"Callen","year":"2002","unstructured":"Callen DF, Eyre H, McDonnell S, Schuffenhauer S, Bhalla K (2002) A complex rearrangement involving simultaneous translocation and inversion is associated with a change in chromatin compaction. Chromosoma 111:170\u2013175","journal-title":"Chromosoma"},{"key":"145_CR4","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1007\/s00335-001-2056-4","volume":"12","author":"Kiehl","year":"2001","unstructured":"Kiehl TR, Shibata H, Vo T, Huynh DP, Pulst SM (2001) Identification and expression of a mouse ortholog of A2BP1. Mamm Genome 12:595\u2013601","journal-title":"Mamm Genome"},{"key":"145_CR5","doi-asserted-by":"publisher","first-page":"1303","DOI":"10.1093\/hmg\/9.9.1303","volume":"9","author":"Shibata","year":"2000","unstructured":"Shibata H, Huynh DP, Pulst SM (2000) A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet 9:1303\u20131313","journal-title":"Hum Mol Genet"},{"key":"145_CR6","first-page":"995","volume":"49","author":"Warburton","year":"1991","unstructured":"Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995\u20131013","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200451.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200451","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200451.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:33:23Z","timestamp":1638387203000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,18]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["145"],"URL":"https:\/\/doi.org\/10.1007\/s10038-004-0145-4","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,18]]}}}