{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T20:27:15Z","timestamp":1769286435563,"version":"3.49.0"},"reference-count":7,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,5,1]],"date-time":"2011-05-01T00:00:00Z","timestamp":1304208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2011,5]]},"DOI":"10.1016\/j.ejmg.2010.12.009","type":"journal-article","created":{"date-parts":[[2010,12,30]],"date-time":"2010-12-30T07:16:14Z","timestamp":1293693374000},"page":"299-300","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"title":["Lung disease in FLNA mutation: Confirmatory report"],"prefix":"10.1016","volume":"54","author":[{"given":"M.C.Y.","family":"de Wit","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.A.W.M.","family":"Tiddens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.F.M.","family":"de Coo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.M.S.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2010.12.009_bib1","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.4049\/jimmunol.177.3.1721","article-title":"Filamin A is required for T cell activation mediated by protein kinase C-theta","volume":"177","author":"Hayashi","year":"2006","journal-title":"J.\u00a0Immunol."},{"key":"10.1016\/j.ejmg.2010.12.009_bib2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ejmg.2010.09.010","article-title":"Lung disease associated with periventricular nodular heterotopia and a FLNA mutation","volume":"54","author":"Masurel-Paulet","year":"2011","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2010.12.009_bib3","doi-asserted-by":"crossref","first-page":"17156","DOI":"10.1074\/jbc.M109.080523","article-title":"Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A","volume":"285","author":"Playford","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ejmg.2010.12.009_bib4","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1002\/ajmg.a.31322","article-title":"Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity","volume":"140","author":"Robertson","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2010.12.009_bib5","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1093\/hmg\/10.17.1775","article-title":"Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females","volume":"10","author":"Sheen","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2010.12.009_bib6","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1212\/01.WNL.0000149512.79621.DF","article-title":"Filamin A mutations cause periventricular heterotopia with Ehlers\u2013Danlos syndrome","volume":"64","author":"Sheen","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2010.12.009_bib7","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/jnnp.2008.149419","article-title":"Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects","volume":"80","author":"de Wit","year":"2009","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatr."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210001564?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721210001564?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:38:25Z","timestamp":1761709105000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721210001564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,5]]}},"alternative-id":["S1769721210001564"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.12.009","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2011,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lung disease in FLNA mutation: Confirmatory report","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2010.12.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}