{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T09:13:15Z","timestamp":1777108395204,"version":"3.51.4"},"reference-count":19,"publisher":"Elsevier BV","issue":"8-9","license":[{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,8,1]],"date-time":"2012-08-01T00:00:00Z","timestamp":1343779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2012,8]]},"DOI":"10.1016\/j.ejmg.2012.04.006","type":"journal-article","created":{"date-parts":[[2012,5,6]],"date-time":"2012-05-06T08:30:21Z","timestamp":1336293021000},"page":"498-501","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre\u2013Chotzen syndrome"],"prefix":"10.1016","volume":"55","author":[{"given":"Emmanuel","family":"Spaggiari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azzedine","family":"Aboura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Sinico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Mabboux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Dupont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne-Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabien","family":"Guimiot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"7","key":"10.1016\/j.ejmg.2012.04.006_bib1","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1097\/01.PRS.0000165278.72168.51","article-title":"Clinical and genetic analysis of patients with Saethre\u2013Chotzen syndrome","volume":"115","author":"de Heer","year":"2005","journal-title":"Plast. Reconstr. Surg."},{"issue":"1","key":"10.1016\/j.ejmg.2012.04.006_bib2","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/ng0197-42","article-title":"Mutations of the TWIST gene in the Saethre\u2013Chotzen syndrome","volume":"15","author":"el Ghouzzi","year":"1997","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2012.04.006_bib3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D","article-title":"Mutations in the human TWIST gene","volume":"15","author":"Gripp","year":"2000","journal-title":"Hum. Mutat."},{"issue":"5","key":"10.1016\/j.ejmg.2012.04.006_bib4","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1086\/302122","article-title":"A\u00a0comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1","volume":"63","author":"Johnson","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2012.04.006_bib5","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/uog.91","article-title":"Prenatal ultrasound diagnosis of fetal craniosynostosis","volume":"21","author":"Delahaye","year":"2003","journal-title":"Ultrasound. Obstet. Gynecol."},{"issue":"3","key":"10.1016\/j.ejmg.2012.04.006_bib6","doi-asserted-by":"crossref","first-page":"420","DOI":"10.7863\/jum.2011.30.3.420","article-title":"Prenatal sonographic diagnosis of familial Saethre\u2013Chotzen syndrome","volume":"30","author":"Gebb","year":"2011","journal-title":"J.\u00a0Ultrasound. Med."},{"issue":"1","key":"10.1016\/j.ejmg.2012.04.006_bib7","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s00439-003-1012-7","article-title":"Increased risk for developmental delay in Saethre\u2013Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening","volume":"114","author":"Cai","year":"2003","journal-title":"Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2012.04.006_bib8","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.ejmg.2011.02.002","article-title":"Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature","volume":"54","author":"Busche","year":"2011","journal-title":"Eur. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2012.04.006_bib9","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1007\/BF00283374","article-title":"A\u00a0craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21","volume":"71","author":"Motegi","year":"1985","journal-title":"Hum. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2012.04.006_bib10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1136\/jmg.30.7.610","article-title":"Mild phenotypic manifestation of a 7p15.3p21.2 deletion","volume":"30","author":"Wang","year":"1993","journal-title":"J.\u00a0Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2012.04.006_bib11","first-page":"36","article-title":"De novo del(7) (pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome","volume":"29","author":"Garc\u00eda-Esquivel","year":"1986","journal-title":"Ann. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2012.04.006_bib12","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.a.10046","article-title":"Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1","volume":"117A","author":"Hoover-Fong","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"issue":"1","key":"10.1016\/j.ejmg.2012.04.006_bib13","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1741-4520.2005.00059.x","article-title":"Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?","volume":"45","author":"Kosaki","year":"2005","journal-title":"Congenit. Anom. (Kyoto)"},{"issue":"3","key":"10.1016\/j.ejmg.2012.04.006_bib14","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1002\/ajmg.a.33860","article-title":"Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster","volume":"155A","author":"Jun","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ejmg.2012.04.006_bib15","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ajmg.10400","article-title":"Genetic analysis of patients with the Saethre\u2013Chotzen phenotype","volume":"110","author":"Chun","year":"2002","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2012.04.006_bib16","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1242\/dev.122.6.1799","article-title":"An HF-1a\/HF-1b\/MEF-2 combinatorial element confers cardiac ventricular specificity and established an anterior-posterior gradient of expression","volume":"122","author":"Ross","year":"1996","journal-title":"Development"},{"issue":"11","key":"10.1016\/j.ejmg.2012.04.006_bib17","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1242\/dev.128.11.2153","article-title":"Hoxa11 and Hoxd11 regulate branching morphogenesis of the ureteric bud in the developing kidney","volume":"128","author":"Patterson","year":"2001","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2012.04.006_bib18","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1196\/annals.1371.045","article-title":"Transcriptional profiling and functional genomics reveal a role for AHR transcription factor in nephrogenesis","volume":"1076","author":"Ramos","year":"2006","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"7","key":"10.1016\/j.ejmg.2012.04.006_bib19","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1136\/jmg.2007.057042","volume":"45","author":"Jehee","year":"2008","journal-title":"J.\u00a0Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212001334?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212001334?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:39:25Z","timestamp":1761709165000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721212001334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8]]},"references-count":19,"journal-issue":{"issue":"8-9","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["S1769721212001334"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.04.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre\u2013Chotzen syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}