{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:47:51Z","timestamp":1764172071410},"reference-count":28,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1016\/j.gene.2013.01.017","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T21:33:37Z","timestamp":1360359217000},"page":"135-141","source":"Crossref","is-referenced-by-count":10,"title":["Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature"],"prefix":"10.1016","volume":"519","author":[{"given":"Inesse","family":"Ben-Abdallah-Bouhjar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumya","family":"Mougou-Zerelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanene","family":"Hannachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hela","family":"Ben-Khelifa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najla","family":"Soyah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatem","family":"Elghezal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Saad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.01.017_bb0005","doi-asserted-by":"crossref","first-page":"6373","DOI":"10.1073\/pnas.0408318102","article-title":"Roundabout 4 is essential for angiogenesis in vivo","volume":"102","author":"Bedel","year":"2005","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.gene.2013.01.017_bb0010","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1002\/ajmg.a.32906","article-title":"Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication\/triplication","volume":"149A","author":"Burnside","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.01.017_bb0015","series-title":"Clinical Atlas of Human Chromosomes","author":"De Grouchy","year":"1977"},{"key":"10.1016\/j.gene.2013.01.017_bb0020","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<273::AID-AJMG19>3.0.CO;2-6","article-title":"Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestation","volume":"80","author":"Delobel","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0025","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/j.cell.2004.11.040","article-title":"Accelerated evolution of nervous system genes in the origin of Homo sapiens","volume":"119","author":"Dorus","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.gene.2013.01.017_bb0030","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1086\/302689","article-title":"A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation","volume":"65","author":"Edelmann","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0035","first-page":"183","article-title":"Duplication and deletion 11q23\u2013q24 recombinants in two offspring of an intrachromosomal insertion (\u201cshift\u201d) carrier","volume":"36","author":"Forsythe","year":"1988","journal-title":"Henry Ford Hosp. Med. J."},{"key":"10.1016\/j.gene.2013.01.017_bb0040","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF00281567","article-title":"The 11q;22q translocation: a European collaborative analysis of 43 cases","volume":"56","author":"Fraccaro","year":"1980","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0045","first-page":"167","article-title":"Duplication 11(q21 to 23qter leads to qter) syndrome","volume":"13","author":"Francke","year":"1977","journal-title":"Birth Defects"},{"key":"10.1016\/j.gene.2013.01.017_bb0050","first-page":"185","article-title":"Duplication 11 (##q22 -.qter) in an infant: a case report with review","volume":"28","author":"Greig","year":"1985","journal-title":"Ann. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0055","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF00292366","article-title":"The 1lq;22q translocation. A collaborative study of 20 new cases and analysis of 110 families","volume":"64","author":"Iselius","year":"1983","journal-title":"Hum. Genet."},{"issue":"6","key":"10.1016\/j.gene.2013.01.017_bb0060","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1159\/000152624","article-title":"An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study","volume":"23","author":"Jacobsen","year":"1973","journal-title":"Hum. Hered."},{"key":"10.1016\/j.gene.2013.01.017_bb0065","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/j.cell.2007.12.040","article-title":"Active caspase-1 is a regulator of unconventional protein secretion","volume":"132","author":"Keller","year":"2008","journal-title":"Cell"},{"issue":"14","key":"10.1016\/j.gene.2013.01.017_bb0070","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1002\/ajmg.a.31321","article-title":"Congenital diaphragmatic hernia associated with duplication of 11q23-qter","volume":"140","author":"Klaassens","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.gene.2013.01.017_bb0075","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S0898-6568(02)00078-5","article-title":"Major occurrence of the new alpha-2\/beta-1 isoform of NO-sensitive guanylyl cyclase in brain","volume":"15","author":"Mergia","year":"2003","journal-title":"Cell. Signal."},{"key":"10.1016\/j.gene.2013.01.017_bb0080","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1002\/humu.20039","article-title":"Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1","volume":"23","author":"Neville","year":"2004","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2013.01.017_bb0085","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/ana.21539","article-title":"Glutamate receptors on myelinated spinal cord axons: II. AMPA and GluR5 receptors","volume":"65","author":"Ouardouz","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.gene.2013.01.017_bb0090","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1320450113","article-title":"Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype","volume":"45","author":"Park","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0095","first-page":"163","article-title":"Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities","volume":"36","author":"Pfeiffer","year":"1993","journal-title":"Ann. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0100","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/BF00278696","article-title":"Partial llq trisomy syndrome","volume":"58","author":"Pihko","year":"1981","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0105","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1016\/j.arcped.2005.07.014","article-title":"Microarray CGH: principle and use for constitutional disorders [French]","volume":"12","author":"Sanlaville","year":"2005","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.gene.2013.01.017_bb0110","series-title":"An International System for Human Cytogenetic Nomenclature","author":"Shaffer","year":"2009"},{"key":"10.1016\/j.gene.2013.01.017_bb0115","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1086\/302666","article-title":"Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families","volume":"65","author":"Shaikh","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0120","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1086\/522240","article-title":"Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development","volume":"81","author":"Simpson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0125","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jmg.34.1.18","article-title":"At least nine cases of trisomy 11q23\u2192qter in one generation as a result of familial t(11;13) translocation","volume":"34","author":"Smeets","year":"1997","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0135","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/mc.10121","article-title":"Overexpression of the immunoglobulin superfamily members CDO and BOC enhances differentiation of the human rhabdomyosarcoma cell line RD","volume":"37","author":"Wegorzewska","year":"2003","journal-title":"Mol. Carcinog."},{"key":"10.1016\/j.gene.2013.01.017_bb0140","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/ajmg.a.20610","article-title":"Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)","volume":"126A","author":"Yelavarthi","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.01.017_bb0145","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/ajmg.a.20134","article-title":"Upper airway malformation associated with partial trisomy 11q","volume":"120A","author":"Zhao","year":"2003","journal-title":"Am. J. Med. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913000577?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913000577?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,18]],"date-time":"2018-10-18T17:53:10Z","timestamp":1539885190000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913000577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["S0378111913000577"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.01.017","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}