{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:22:39Z","timestamp":1761823359039,"version":"build-2065373602"},"reference-count":13,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2011,2,1]],"date-time":"2011-02-01T00:00:00Z","timestamp":1296518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,2,1]],"date-time":"2011-02-01T00:00:00Z","timestamp":1296518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.es","revespcardiol.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Revista Espa\u00f1ola de Cardiolog\u00eda"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1016\/j.recesp.2010.02.001","type":"journal-article","created":{"date-parts":[[2011,1,19]],"date-time":"2011-01-19T05:14:29Z","timestamp":1295414069000},"page":"151-154","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"title":["Utilidad del diagn\u00f3stico molecular en una familia con s\u00edndrome de Marfan y un fenotipo vascular at\u00edpico"],"prefix":"10.1016","volume":"64","author":[{"given":"Ana","family":"Lebreiro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabete","family":"Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Almeida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Pimenta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Miguel","family":"Bernardes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Carlos","family":"Machado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cassiano","family":"Abreu-Lima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.recesp.2010.02.001_bib0005","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1097\/00045415-199911000-00011","article-title":"Therapeutic management of patients with Marfan syndrome: focus on cardiovascular involvement","volume":"7","author":"Nienaber","year":"1999","journal-title":"Cardiol Rev."},{"key":"10.1016\/j.recesp.2010.02.001_bib0010","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1136\/hrt.2005.081638","article-title":"Beyond the root: dilatation of the distal aorta in Marfan's syndrome","volume":"92","author":"Engelfriet","year":"2006","journal-title":"Heart."},{"key":"10.1016\/j.recesp.2010.02.001_bib0015","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4","article-title":"UMD (Universal mutation database): a generic software to build and analyze locus-specific databases","volume":"15","author":"Beroud","year":"2000","journal-title":"Hum Mutat."},{"key":"10.1016\/j.recesp.2010.02.001_bib0020","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1086\/341581","article-title":"Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes","volume":"71","author":"Schrijver","year":"2002","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.recesp.2010.02.001_bib0025","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R","article-title":"Revised diagnostic criteria for the Marfan syndrome","volume":"62","author":"De Paepe","year":"1996","journal-title":"Am J Med Genet."},{"key":"10.1016\/j.recesp.2010.02.001_bib0030","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1016\/j.echo.2005.10.005","volume":"18","author":"Lang","year":"2005","journal-title":"J Am Soc Echocardiogr."},{"key":"10.1016\/j.recesp.2010.02.001_bib0035","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/0002-9149(89)90430-X","article-title":"Two-dimensional echocardiographic aortic root dimensions in normal children and adults","volume":"64","author":"Roman","year":"1989","journal-title":"Am J Cardiol."},{"key":"10.1016\/j.recesp.2010.02.001_bib0040","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","author":"Loeys","year":"2004","journal-title":"Hum Mutat."},{"key":"10.1016\/j.recesp.2010.02.001_bib0045","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in the TGF-beta receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N Engl J Med."},{"key":"10.1016\/j.recesp.2010.02.001_bib0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10038-006-0078-1","article-title":"Recent progress in genetics of Marfan syndrome and Marfan-associated disorders","volume":"52","author":"Mizuguchi","year":"2007","journal-title":"J Hum Genet."},{"key":"10.1016\/j.recesp.2010.02.001_bib0055","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/sj.ejhg.5200876","article-title":"Marfan syndrome in the third millennium","volume":"10","author":"Collod-Beroud","year":"2002","journal-title":"Eur J Hum Genet."},{"key":"10.1016\/j.recesp.2010.02.001_bib0060","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/ng1116","article-title":"Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome","volume":"33","author":"Neptune","year":"2003","journal-title":"Nat Genet."},{"key":"10.1016\/j.recesp.2010.02.001_bib0065","doi-asserted-by":"crossref","first-page":"S1877","DOI":"10.1016\/S0003-4975(02)04147-4","article-title":"Natural history of thoracic aortic aneurysms: indications for surgery, and surgical versus nonsurgical risks","volume":"74","author":"Elefteriades","year":"2002","journal-title":"Ann Thorac Surg."}],"container-title":["Revista Espa\u00f1ola de Cardiolog\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0300893210000102?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0300893210000102?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T00:55:49Z","timestamp":1759539349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0300893210000102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["S0300893210000102"],"URL":"https:\/\/doi.org\/10.1016\/j.recesp.2010.02.001","relation":{},"ISSN":["0300-8932"],"issn-type":[{"type":"print","value":"0300-8932"}],"subject":[],"published":{"date-parts":[[2011,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Utilidad del diagn\u00f3stico molecular en una familia con s\u00edndrome de Marfan y un fenotipo vascular at\u00edpico","name":"articletitle","label":"Article Title"},{"value":"Revista Espa\u00f1ola de Cardiolog\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.recesp.2010.02.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Sociedad Espa\u00f1ola de Cardiolog\u00eda. Published by Elsevier Espa\u00f1a, S.L. All rights reserved.","name":"copyright","label":"Copyright"}]}}