{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:41:44Z","timestamp":1788306104923,"version":"build-2803163510"},"reference-count":17,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"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","journal.chestnet.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Chest"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1378\/chest.13-2913","type":"journal-article","created":{"date-parts":[[2014,10,15]],"date-time":"2014-10-15T15:31:00Z","timestamp":1413387060000},"page":"764-770","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Bardet Biedl Syndrome"],"prefix":"10.1016","volume":"147","author":[{"given":"Amelia","family":"Shoemark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mellisa","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire L.","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1378\/chest.13-2913_bib1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ejhg.2012.115","article-title":"Bardet-Biedl syndrome","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"9","key":"10.1378\/chest.13-2913_bib2","doi-asserted-by":"crossref","first-page":"3380","DOI":"10.1073\/pnas.0712327105","article-title":"Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia","volume":"105","author":"Shah","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"49","key":"10.1378\/chest.13-2913_bib3","doi-asserted-by":"crossref","first-page":"19422","DOI":"10.1073\/pnas.0708571104","article-title":"A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity","volume":"104","author":"Davis","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"10.1378\/chest.13-2913_bib4","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1183\/09031936.98.12040982","article-title":"Primary ciliary dyskinesia: diagnosis and standards of care","volume":"12","author":"Bush","year":"1998","journal-title":"Eur Respir J"},{"issue":"7","key":"10.1378\/chest.13-2913_bib5","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1002\/ajmg.a.36036","article-title":"Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS\/NPHP2 gene","volume":"161A","author":"Moalem","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"4","key":"10.1378\/chest.13-2913_bib6","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ppul.22632","article-title":"RPGR mutations might cause reduced orientation of respiratory cilia","volume":"48","author":"Bukowy-Biery\u0142\u0142o","year":"2013","journal-title":"Pediatr Pulmonol"},{"issue":"6","key":"10.1378\/chest.13-2913_bib7","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1183\/09031936.00176608","article-title":"Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children","volume":"34","author":"Barbato","year":"2009","journal-title":"Eur Respir J"},{"issue":"3","key":"10.1378\/chest.13-2913_bib8","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/S0091-6749(03)01799-8","article-title":"Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia","volume":"112","author":"Chilvers","year":"2003","journal-title":"J Allergy Clin Immunol"},{"issue":"3","key":"10.1378\/chest.13-2913_bib9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1136\/jclinpath-2011-200415","article-title":"Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia","volume":"65","author":"Shoemark","year":"2012","journal-title":"J Clin Pathol"},{"issue":"10","key":"10.1378\/chest.13-2913_bib10","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1136\/adc.2003.045971","article-title":"Neonatal respiratory morbidity at term and the risk of childhood asthma","volume":"89","author":"Smith","year":"2004","journal-title":"Arch Dis Child"},{"issue":"suppl 3","key":"10.1378\/chest.13-2913_bib11","first-page":"iii1","article-title":"British Thoracic Society Cough Guideline Group. BTS guidelines: recommendations for the assessment and management of cough in children","volume":"63","author":"Shields","year":"2008","journal-title":"Thorax"},{"issue":"suppl 1","key":"10.1378\/chest.13-2913_bib12","doi-asserted-by":"crossref","first-page":"i1","DOI":"10.1136\/thx.2006.065144","article-title":"British Thoracic Society Cough Guideline Group. Recommendations for the management of cough in adults","volume":"61","author":"Morice","year":"2006","journal-title":"Thorax"},{"issue":"1","key":"10.1378\/chest.13-2913_bib14","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1365-2222.2007.02888.x","article-title":"BSACI guidelines for the management of allergic and non-allergic rhinitis","volume":"38","author":"Scadding","year":"2008","journal-title":"Clin Exp Allergy"},{"issue":"4","key":"10.1378\/chest.13-2913_bib16","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1164\/rccm.200303-365OC","article-title":"Primary ciliary dyskinesia: diagnostic and phenotypic features","volume":"169","author":"Noone","year":"2004","journal-title":"Am J Respir Crit Care Med"},{"issue":"21","key":"10.1378\/chest.13-2913_bib17","doi-asserted-by":"crossref","first-page":"16218","DOI":"10.1074\/jbc.M109.070953","article-title":"Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling","volume":"285","author":"Wiens","year":"2010","journal-title":"J Biol Chem"},{"issue":"4","key":"10.1378\/chest.13-2913_bib18","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1016\/j.jaci.2010.05.046","article-title":"Ciliary dysfunction and ultrastructural abnormalities are features of severe asthma","volume":"126","author":"Thomas","year":"2010","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"10.1378\/chest.13-2913_bib19","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.hlc.2012.07.052","article-title":"Noncompaction of the myocardium coexistent with bronchiectasis and polycystic kidney disease","volume":"22","author":"Kim","year":"2013","journal-title":"Heart Lung Circ"}],"container-title":["Chest"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0012369215396744?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0012369215396744?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T07:06:25Z","timestamp":1757919985000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0012369215396744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S0012369215396744"],"URL":"https:\/\/doi.org\/10.1378\/chest.13-2913","relation":{},"ISSN":["0012-3692"],"issn-type":[{"value":"0012-3692","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bardet Biedl Syndrome","name":"articletitle","label":"Article Title"},{"value":"Chest","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1378\/chest.13-2913","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}