{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T07:00:00Z","timestamp":1775113200836,"version":"3.50.1"},"reference-count":22,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2011,12,1]],"date-time":"2011-12-01T00:00:00Z","timestamp":1322697600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,12,1]],"date-time":"2011-12-01T00:00:00Z","timestamp":1322697600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["10103493"],"award-info":[{"award-number":["10103493"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajconline.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Cardiology"],"published-print":{"date-parts":[[2011,12]]},"DOI":"10.1016\/j.amjcard.2011.07.053","type":"journal-article","created":{"date-parts":[[2011,9,11]],"date-time":"2011-09-11T16:24:55Z","timestamp":1315758295000},"page":"1801-1807","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray-Based Mutational Analysis of Fibrillin-1 Gene"],"prefix":"10.1016","volume":"108","author":[{"given":"Naomi","family":"Ogawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Imai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kan","family":"Nawata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayoshi","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norifumi","family":"Takeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahide","family":"Kohro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Morita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Taketani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuro","family":"Morota","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Yamazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Takamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryozo","family":"Nagai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasunobu","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.amjcard.2011.07.053_bib1","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1093\/hmg\/4.suppl_1.1799","article-title":"Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders","volume":"4","author":"Dietz","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib2","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.amjcard.2011.07.053_bib3","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.amjcard.2008.12.037","article-title":"Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population","volume":"103","author":"Akutsu","year":"2009","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.amjcard.2011.07.053_bib4","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib5","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","author":"Collod-B\u00e9roud","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.amjcard.2011.07.053_bib6","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 probands 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\/j.amjcard.2011.07.053_bib7","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1101\/gr.197201","article-title":"High-throughput variation detection and genotyping using microarrays","volume":"11","author":"Cutler","year":"2001","journal-title":"Genome Res"},{"key":"10.1016\/j.amjcard.2011.07.053_bib8","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/humu.10075","article-title":"New developments in high throughput resequencing and variation detection using high-density microarrays","volume":"19","author":"Warrington","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.amjcard.2011.07.053_bib9","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1001\/archneur.65.10.1326","article-title":"Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis","volume":"65","author":"Takahashi","year":"2008","journal-title":"Arch Neurol"},{"key":"10.1016\/j.amjcard.2011.07.053_bib10","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.amjcard.2011.07.053_bib11","doi-asserted-by":"crossref","first-page":"1719","DOI":"10.1002\/ajmg.a.31353","article-title":"Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes","volume":"140","author":"Sakai","year":"2006","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib12","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/ng1392","article-title":"Heterozygous TGFBR2 mutations in Marfan syndrome","volume":"36","author":"Mizuguchi","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib13","first-page":"8","article-title":"Fifteen novel FBN1 mutations causing marfan syndrome detected by heteroduplex analysis of genomic amplicons","volume":"57","author":"Nijbroek","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib14","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":"M\u00e1ty\u00e1s","year":"2007","journal-title":"Hum Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib15","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/humu.20239","article-title":"Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome","volume":"26","author":"Rommel","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.amjcard.2011.07.053_bib16","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1089\/gte.1997.1.237","article-title":"Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders","volume":"1","author":"Liu","year":"1997","journal-title":"Genet Test"},{"key":"10.1016\/j.amjcard.2011.07.053_bib17","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1034\/j.1399-0004.2001.590610.x","article-title":"Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation","volume":"59","author":"Pepe","year":"2001","journal-title":"Clin Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib18","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.amjcard.2011.07.053_bib19","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in the TGFb receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1016\/j.amjcard.2011.07.053_bib20","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/ng.2007.6","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections","volume":"39","author":"Guo","year":"2007","journal-title":"Nat Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib21","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/ng1721","article-title":"Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm\/aortic dissection and patent ductus arteriosus","volume":"38","author":"Zhu","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.amjcard.2011.07.053_bib22","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/ng.744","article-title":"Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis","volume":"43","author":"van de Laar","year":"2011","journal-title":"Nat Genet"}],"container-title":["The American Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002914911024350?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002914911024350?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:02:19Z","timestamp":1762077739000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002914911024350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12]]},"references-count":22,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["S0002914911024350"],"URL":"https:\/\/doi.org\/10.1016\/j.amjcard.2011.07.053","relation":{},"ISSN":["0002-9149"],"issn-type":[{"value":"0002-9149","type":"print"}],"subject":[],"published":{"date-parts":[[2011,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray-Based Mutational Analysis of Fibrillin-1 Gene","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.amjcard.2011.07.053","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}