{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T13:13:56Z","timestamp":1780406036211,"version":"3.54.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,12,10]],"date-time":"2016-12-10T00:00:00Z","timestamp":1481328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["MOST-104-2314-B-195-009"],"award-info":[{"award-number":["MOST-104-2314-B-195-009"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology","doi-asserted-by":"publisher","award":["MOST-105-2314-B-195-012"],"award-info":[{"award-number":["MOST-105-2314-B-195-012"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"MacKay Memorial Hospital, Taipei, Taiwan","doi-asserted-by":"publisher","award":["MMH-E-105-04"],"award-info":[{"award-number":["MMH-E-105-04"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.tjog.2016.12.004","type":"journal-article","created":{"date-parts":[[2017,2,28]],"date-time":"2017-02-28T19:24:42Z","timestamp":1488309882000},"page":"102-105","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound"],"prefix":"10.1016","volume":"56","author":[{"given":"Chih-Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang-Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Chen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tung-Yao","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Schu-Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peih-Shan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yen-Ni","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-Wen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Chi","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Wen","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tjog.2016.12.004_bib1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-4-9","article-title":"Jacobsen syndrome","volume":"4","author":"Mattina","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.tjog.2016.12.004_bib2","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.c.31448","article-title":"Jacobsen syndrome: advances in our knowledge of phenotype and genotype","volume":"169C","author":"Favier","year":"2015","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.tjog.2016.12.004_bib3","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/pd.42","article-title":"Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial cleft","volume":"21","author":"Chen","year":"2001","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2016.12.004_bib4","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/pd.802","article-title":"Prenatal diagnosis of the distal 11q deletion and review of the literature","volume":"24","author":"Chen","year":"2004","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.tjog.2016.12.004_bib5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/ajmg.a.30090","article-title":"The 11q terminal deletion disorder: a prospective study of 110 cases","volume":"129A","author":"Grossfeld","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.tjog.2016.12.004_bib6","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1247\/csf.26.19","article-title":"Role of ETS family transcription factors in vascular development and angiogenesis","volume":"26","author":"Sato","year":"2001","journal-title":"Cell Struct Funct"},{"key":"10.1016\/j.tjog.2016.12.004_bib7","doi-asserted-by":"crossref","first-page":"2508","DOI":"10.1172\/JCI24403","article-title":"Ets-1 is a critical regulator of Ang II-mediated vascular inflammation and remodeling","volume":"115","author":"Zhan","year":"2005","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.tjog.2016.12.004_bib8","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1093\/hmg\/ddp532","article-title":"Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice","volume":"19","author":"Ye","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.tjog.2016.12.004_bib9","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1161\/CIRCRESAHA.115.304458","article-title":"Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data","volume":"115","author":"Glessner","year":"2014","journal-title":"Circ Res"},{"key":"10.1016\/j.tjog.2016.12.004_bib10","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/cvr\/cvv043","article-title":"Dual developmental role of transcriptional regulator Ets1 in Xenopus cardiac neural crest vs. heart mesoderm","volume":"106","author":"Nie","year":"2015","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.tjog.2016.12.004_bib11","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1007\/s10875-013-9966-2","article-title":"Terminal deletion of 11q with significant late-onset combined immune deficiency","volume":"34","author":"Sepp\u00e4nen","year":"2014","journal-title":"J\u00a0Clin Immunol"},{"key":"10.1016\/j.tjog.2016.12.004_bib12","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1007\/s10875-015-0211-z","article-title":"The 11q terminal deletion disorder Jacobsen Syndrome is a syndromic primary immunodeficiency","volume":"35","author":"Dalm","year":"2015","journal-title":"J\u00a0Clin Immunol"},{"key":"10.1016\/j.tjog.2016.12.004_bib13","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/377635a0","article-title":"Increased T-cell apoptosis and terminal B-cell differentiation induced by inactivation of the Ets-1 proto-oncogene","volume":"377","author":"Bories","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.tjog.2016.12.004_bib14","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/377639a0","article-title":"Defective activation and survival of T cells lacking the Ets-1 transcription factor","volume":"377","author":"Muthusamy","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.tjog.2016.12.004_bib15","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/S1074-7613(00)80638-X","article-title":"The Ets-1 transcription factor is required for the development of natural killer cells in mice","volume":"9","author":"Barton","year":"1998","journal-title":"Immunity"},{"key":"10.1016\/j.tjog.2016.12.004_bib16","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1101\/gad.950902","article-title":"An ERK2 docking site in the Pointed domain distinguishes a subset of ETS transcription factors","volume":"16","author":"Seidel","year":"2002","journal-title":"Genes Dev"},{"key":"10.1016\/j.tjog.2016.12.004_bib17","doi-asserted-by":"crossref","first-page":"15712","DOI":"10.1073\/pnas.0405546101","article-title":"The Ets-1 transcription factor is required for complete pre-T cell receptor function and allelic exclusion at the T cell receptor beta locus","volume":"101","author":"Eyquem","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.tjog.2016.12.004_bib18","doi-asserted-by":"crossref","first-page":"10954","DOI":"10.1128\/MCB.24.24.10954-10964.2004","article-title":"Ras\/mitogen-activated protein kinase signaling activates Ets-1 and Ets-2 by CBP\/p300 recruitment","volume":"24","author":"Foulds","year":"2004","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.tjog.2016.12.004_bib19","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1093\/intimm\/dxh295","article-title":"Ets-1 deficiency leads to altered B cell differentiation, hyperresponsiveness to TLR9 and autoimmune disease","volume":"17","author":"Wang","year":"2005","journal-title":"Int Immunol"},{"key":"10.1016\/j.tjog.2016.12.004_bib20","doi-asserted-by":"crossref","first-page":"3375","DOI":"10.1007\/s00018-012-1243-7","article-title":"Review of Ets1 structure, function, and roles in immunity","volume":"70","author":"Garrett-Sinha","year":"2013","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.tjog.2016.12.004_bib21","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S1074-7613(00)00017-0","article-title":"Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia","volume":"13","author":"Hart","year":"2000","journal-title":"Immunity"},{"key":"10.1016\/j.tjog.2016.12.004_bib22","first-page":"608","article-title":"A\u00a0novel genetic thrombocytopenia (Paris-Trousseau) associated with platelet inclusions, dysmegakaryopoiesis and chromosome deletion at 11q23","volume":"316","author":"Favier","year":"1993","journal-title":"C\u00a0R Acad Sci III"},{"key":"10.1016\/j.tjog.2016.12.004_bib23","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1160\/TH03-02-0120","article-title":"Paris-Trousseau syndrome: clinical, haematological, molecular data of ten new cases","volume":"90","author":"Favier","year":"2003","journal-title":"Thromb Haemost"},{"key":"10.1016\/j.tjog.2016.12.004_bib24","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S1567-133X(03)00151-0","article-title":"Bsx, an evolutionary conserved brain specific homeobox gene expressed in the septum, epiphysis, mammillary bodies and arcuate nucleus","volume":"4","author":"Cremona","year":"2004","journal-title":"Gene Expr Patterns"},{"key":"10.1016\/j.tjog.2016.12.004_bib25","doi-asserted-by":"crossref","first-page":"3743","DOI":"10.1128\/MCB.01561-06","article-title":"Cloning and functional analysis of hypothalamic homeobox gene Bsx1a and its isoform, Bsx1b","volume":"27","author":"Chu","year":"2007","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.tjog.2016.12.004_bib26","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.cmet.2007.05.007","article-title":"A\u00a0role for brain-specific homeobox factor Bsx in the control of hyperphagia and locomotory behavior","volume":"5","author":"Sakkou","year":"2007","journal-title":"Cell Metab"},{"key":"10.1016\/j.tjog.2016.12.004_bib27","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1074\/jbc.M208872200","article-title":"RICS, a novel GTPase-activating protein for Cdc42 and Rac1, is involved in the beta-catenin-N-cadherin and N-methyl-D-aspartate receptor signaling","volume":"278","author":"Okabe","year":"2003","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.tjog.2016.12.004_bib28","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/gim.2014.86","article-title":"Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q","volume":"17","author":"Akshoomoff","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.tjog.2016.12.004_bib29","doi-asserted-by":"crossref","first-page":"10861","DOI":"10.1038\/ncomms10861","article-title":"PX-RICS-deficient mice mimic Jacobsen syndrome-related autism spectrum disorder through impaired GABAA receptor trafficking","volume":"7","author":"Nakamura","year":"2016","journal-title":"Nat Commun"},{"key":"10.1016\/j.tjog.2016.12.004_bib30","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s10048-008-0157-x","article-title":"Comparative genomic hybridization mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)","volume":"10","author":"Coldren","year":"2009","journal-title":"Neurogenetics"}],"container-title":["Taiwanese Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455916302431?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1028455916302431?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:13:56Z","timestamp":1760897636000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1028455916302431"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["S1028455916302431"],"URL":"https:\/\/doi.org\/10.1016\/j.tjog.2016.12.004","relation":{},"ISSN":["1028-4559"],"issn-type":[{"value":"1028-4559","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound","name":"articletitle","label":"Article Title"},{"value":"Taiwanese Journal of Obstetrics and Gynecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.tjog.2016.12.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}