{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T15:56:26Z","timestamp":1648569386440},"reference-count":18,"publisher":"Elsevier BV","issue":"7-8","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T00:00:00Z","timestamp":1555372800000},"content-version":"vor","delay-in-days":2846,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Revista Portuguesa de Cardiologia (English Edition)"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/s2174-2049(11)70003-4","type":"journal-article","created":{"date-parts":[[2011,10,21]],"date-time":"2011-10-21T03:35:48Z","timestamp":1319168148000},"page":"649-654","source":"Crossref","is-referenced-by-count":0,"title":["Genotypic characterization of a Portuguese population of Marfan syndrome patients"],"prefix":"10.1016","volume":"30","author":[{"given":"Ana","family":"Lebreiro","sequence":"first","affiliation":[]},{"given":"Elisabete","family":"Martins","sequence":"additional","affiliation":[]},{"given":"Cristina","family":"Cruz","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Almeida","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Pimenta","sequence":"additional","affiliation":[]},{"given":"Miguel","family":"Bernardes","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9 Carlos","family":"Machado","sequence":"additional","affiliation":[]},{"given":"M.","family":"J\u00falia Maciel","sequence":"additional","affiliation":[]},{"given":"Cassiano","family":"Abreu-Lima","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1016\/S2174-2049(11)70003-4_bb0005","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\/S2174-2049(11)70003-4_bb0010","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\/S2174-2049(11)70003-4_bb0015","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/humu.10113","article-title":"Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies","volume":"20","author":"Robinson","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0020","doi-asserted-by":"crossref","first-page":"1965","DOI":"10.1016\/S0140-6736(05)67789-6","article-title":"Marfan's syndrome","volume":"366","author":"Judge","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0025","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\/S2174-2049(11)70003-4_bb0030","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\/S2174-2049(11)70003-4_bb0035","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkn828","article-title":"Ensembl 2009","author":"Hubbard","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0040","doi-asserted-by":"crossref","first-page":"3894","DOI":"10.1093\/nar\/gkf493","article-title":"Human non-synonymous SNPs: server and survey","volume":"30","author":"Ramensky","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0045","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\/S2174-2049(11)70003-4_bb0050","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s00439-007-0371-x","article-title":"Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome","volume":"122","author":"Matyas","year":"2007","journal-title":"Hum Genet"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0055","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\/S2174-2049(11)70003-4_bb0060","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of mutation type and location on clinical outcome in 1,013 pro bands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study","volume":"81","author":"Faivre","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0065","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1007\/PL00000807","article-title":"The molecular pathogenesis of the Marfan syndrome","volume":"58","author":"Robinson","year":"2001","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0070","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1006\/geno.1993.1349","article-title":"Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome","volume":"17","author":"Dietz","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0075","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1016\/j.ejcts.2007.02.027","article-title":"Genetic testing in patients with aortic aneurysms\/dissections: a novel genotype\/phenotype correlation?","volume":"31","author":"Waldmuller","year":"2007","journal-title":"Eur J Cardiothorac Surg"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0080","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2008.11.004","article-title":"Compound-heterozygous Marfan syndrome","volume":"52","author":"Van Dijk","year":"2009","journal-title":"Eur J Med Genet"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0085","first-page":"1083","article-title":"A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype","volume":"55","author":"Karttunen","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S2174-2049(11)70003-4_bb0090","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.9505","article-title":"The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations","volume":"28","author":"Comeglio","year":"2007","journal-title":"Hum Mutat"}],"container-title":["Revista Portuguesa de Cardiologia (English Edition)"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2174204911700034?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2174204911700034?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T02:49:51Z","timestamp":1555382991000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2174204911700034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":18,"journal-issue":{"issue":"7-8","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S2174204911700034"],"URL":"https:\/\/doi.org\/10.1016\/s2174-2049(11)70003-4","relation":{},"ISSN":["2174-2049"],"issn-type":[{"value":"2174-2049","type":"print"}],"subject":[],"published":{"date-parts":[[2011,7]]}}}