{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:12:16Z","timestamp":1760145136057,"version":"build-2065373602"},"reference-count":19,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,2,1]],"date-time":"2013-02-01T00:00:00Z","timestamp":1359676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,2,1]],"date-time":"2013-02-01T00:00:00Z","timestamp":1359676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T00:00:00Z","timestamp":1535500800000},"content-version":"vor","delay-in-days":2035,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revista Portuguesa de Cardiologia"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1016\/j.repc.2012.05.025","type":"journal-article","created":{"date-parts":[[2013,1,24]],"date-time":"2013-01-24T06:03:14Z","timestamp":1359007394000},"page":"153-157","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Estenose a\u00f3rtica subvalvular associada \u00e0 dele\u00e7\u00e3o 8p23"],"prefix":"10.1016","volume":"32","author":[{"given":"Patr\u00edcio","family":"Aguiar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diogo","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Ferro Rodrigues","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Ara\u00fajo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Lu\u00eds","family":"Ducla Soares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.repc.2012.05.025_bib0005","doi-asserted-by":"crossref","first-page":"2778","DOI":"10.1093\/eurheartj\/ehl560","article-title":"Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients","volume":"28","author":"Thienpont","year":"2007","journal-title":"Eur Heart J"},{"key":"10.1016\/j.repc.2012.05.025_bib0010","series-title":"Harrison's Principles of internal medicine","first-page":"1458","article-title":"Congential heart disease in the adult","author":"Child","year":"2008"},{"key":"10.1016\/j.repc.2012.05.025_bib0015","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1002\/ajmg.a.32205","article-title":"Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits","volume":"146A","author":"P\u00e1ez","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.repc.2012.05.025_bib0020","doi-asserted-by":"crossref","first-page":"2412","DOI":"10.1161\/CIRCULATIONAHA.105.592089","article-title":"Left ventricular outflow obstruction: subaortic stenosis, bicuspid aortic valve, supravalvar aortic stenosis, and coarctation of the aorta","volume":"114","author":"Aboulhosn","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.repc.2012.05.025_bib0025","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1159\/000006939","article-title":"Fixed subaortic stenosis revisited. congenital abnormalities in 72 new cases and review of the literature","volume":"92","author":"Tentolouris","year":"1999","journal-title":"Cardiology"},{"key":"10.1016\/j.repc.2012.05.025_bib0030","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/BF00282178","article-title":"The coagulation factor vii regulator is located on 8p23.1","volume":"79","author":"Fagan","year":"1988","journal-title":"Hum Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0100","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1007\/BF00221946","article-title":"Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures and mild mental retardation","volume":"89","author":"Pettenati","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0105","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<868::AID-PD641>3.0.CO;2-A","article-title":"A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases","volume":"19","author":"Reddy","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.repc.2012.05.025_bib0035","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<515::AID-AJMG12>3.0.CO;2-F","article-title":"A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8","volume":"74","author":"Claeys","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0050","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1086\/302330","article-title":"Delineation of the critical deletion region for congenital heart defects, on chromossome 8p23.1","volume":"64","author":"Devriendt","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0055","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<534::AID-AJMG15>3.0.CO;2-L","article-title":"Deletion 8p syndrome","volume":"75","author":"Diglio","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0060","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1111\/j.1469-8749.2001.tb00174.x","article-title":"Deletion of 8p: a report of a child with normal intelligence","volume":"43","author":"Gilmore","year":"2001","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.repc.2012.05.025_bib0065","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1002\/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I","article-title":"Prenatal diagnosis of an 8p23.1 deletion in fetus with a diaphragmatic hernia and review of the literature","volume":"18","author":"Faivre","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.repc.2012.05.025_bib0070","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1161\/01.CIR.102.4.432","article-title":"Deletion of a 5-cM region at chromosome 8p23 is associated with a Spectrum of congenital heart defects","volume":"102","author":"Giglio","year":"2000","journal-title":"Circulation"},{"key":"10.1016\/j.repc.2012.05.025_bib0075","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1002\/ajmg.a.32095","article-title":"Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome","volume":"146A","author":"Baynam","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.repc.2012.05.025_bib0080","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V","article-title":"GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease","volume":"83","author":"Pehlivan","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0085","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1136\/jmg.29.6.407","article-title":"Distal 8p deletion (8p23.1----8pter): a common deletion?","volume":"29","author":"Hutchinson","year":"1992","journal-title":"J Med Genet"},{"key":"10.1016\/j.repc.2012.05.025_bib0090","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<863::AID-PD640>3.0.CO;2-I","article-title":"Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease","volume":"19","author":"Bhatia","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.repc.2012.05.025_bib0095","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1172\/JCI23769","article-title":"Morphogenesis of the right ventricle requires myocardial expression of Gata4","volume":"115","author":"Zeisberg","year":"2005","journal-title":"J Clin Invest"}],"container-title":["Revista Portuguesa de Cardiologia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0870255112003010?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0870255112003010?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:00:44Z","timestamp":1760108444000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0870255112003010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["S0870255112003010"],"URL":"https:\/\/doi.org\/10.1016\/j.repc.2012.05.025","relation":{},"ISSN":["0870-2551"],"issn-type":[{"type":"print","value":"0870-2551"}],"subject":[],"published":{"date-parts":[[2013,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Estenose a\u00f3rtica subvalvular associada \u00e0 dele\u00e7\u00e3o 8p23","name":"articletitle","label":"Article Title"},{"value":"Revista Portuguesa de Cardiologia","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.repc.2012.05.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espa\u00f1a, S.L.","name":"copyright","label":"Copyright"}]}}