{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T11:45:34Z","timestamp":1791632734706,"version":"4.3.4"},"reference-count":40,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archivos de Bronconeumolog\u00eda"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.arbres.2020.02.010","type":"journal-article","created":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T17:37:31Z","timestamp":1585935451000},"page":"186-194","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Implementaci\u00f3n de un panel de genes para el diagn\u00f3stico gen\u00e9tico de la discinesia ciliar primaria"],"prefix":"10.1016","volume":"57","author":[{"given":"Noelia","family":"Baz-Red\u00f3n","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Rovira-Amigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida","family":"Paramonov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Castillo-Corull\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cols Roig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Antol\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Garc\u00eda Arum\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alba","family":"Torrent-Vernetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e9s","family":"de Mir Messa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Gartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Iglesias Serrano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Araceli","family":"Caballero-Rabasco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d3scar","family":"Asensio de la Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerardo","family":"Vizmanos-Lamotte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Mart\u00edn de Vicente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda del Mar","family":"Mart\u00ednez-Colls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Reula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amparo","family":"Escribano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Das\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Armengot-Carceller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Polverino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Amengual Pieras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanel","family":"Amaro-Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Garrido-Pontnou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00faria","family":"Camats-Tarruella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Fern\u00e1ndez-Cancio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Moreno-Gald\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.arbres.2020.02.010_bib0205","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1136\/archdischild-2013-304831","article-title":"Diagnosis and management of primary ciliary dyskinesia","volume":"99","author":"Lucas","year":"2014","journal-title":"Arch Dis Child."},{"key":"10.1016\/j.arbres.2020.02.010_bib0210","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1080\/21678707.2017.1324780","article-title":"New insights in primary ciliary dyskinesia","volume":"5","author":"Reula","year":"2017","journal-title":"Expert Opin Orphan Drugs."},{"key":"10.1016\/j.arbres.2020.02.010_bib0215","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.arbres.2017.07.015","article-title":"Spanish guidelines on the evaluation and diagnosis of bronchiectasis in adults","volume":"54","author":"Mart\u00ednez-Garc\u00eda","year":"2018","journal-title":"Arch Bronconeumol."},{"key":"10.1016\/j.arbres.2020.02.010_bib0220","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1378\/chest.13-1704","article-title":"Genetic disorders of mucociliary clearance consortium laterality defects other than situs inversus totalis in primary ciliary dyskinesia: Insights into situs ambiguus and heterotaxy","volume":"146","author":"Shapiro","year":"2014","journal-title":"Chest."},{"key":"10.1016\/j.arbres.2020.02.010_bib0225","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01090-2016","article-title":"European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Lucas","year":"2017","journal-title":"Eur Respir J."},{"key":"10.1016\/j.arbres.2020.02.010_bib0230","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"American Thoracic Society Diagnosis of Primary Ciliary Dyskinesia. An official American Thoracic Society Clinical Practice Guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am J Respir Crit Care Med."},{"key":"10.1016\/j.arbres.2020.02.010_bib0235","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.chest.2019.01.036","article-title":"Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia","volume":"155","author":"Rubbo","year":"2019","journal-title":"Chest."},{"key":"10.1016\/j.arbres.2020.02.010_bib0240","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1164\/rccm.201607-1351OC","article-title":"Accuracy of immunofluorescence in the diagnosis of primary ciliary dyskinesia","volume":"196","author":"Shoemark","year":"2017","journal-title":"Am J Respir Crit Care Med."},{"key":"10.1016\/j.arbres.2020.02.010_bib0245","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.arbres.2019.01.021","article-title":"Role of Immunofluorescence and molecular diagnosis in the characterization of primary ciliary dyskinesia","volume":"55","author":"Baz-Red\u00f3n","year":"2019","journal-title":"Arch Bronconeumol."},{"key":"10.1016\/j.arbres.2020.02.010_bib0250","doi-asserted-by":"crossref","first-page":"14279","DOI":"10.1038\/ncomms14279","article-title":"X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3","volume":"8","author":"Olcese","year":"2017","journal-title":"Nat Commun."},{"key":"10.1016\/j.arbres.2020.02.010_bib0255","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmg.2005.034868","article-title":"RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa","volume":"43","author":"Moore","year":"2006","journal-title":"J Med Genet."},{"key":"10.1016\/j.arbres.2020.02.010_bib0260","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00439-006-0210-5","article-title":"A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type i syndrome","volume":"120","author":"Budny","year":"2006","journal-title":"Hum Genet."},{"key":"10.1016\/j.arbres.2020.02.010_bib0265","article-title":"Primary ciliary dyskinesia in the genomics age","author":"Lucas","year":"2019","journal-title":"Lancet Respir Med."},{"key":"10.1016\/j.arbres.2020.02.010_bib0270","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1183\/13993003.01551-2015","article-title":"PICADAR: A diagnostic predictive tool for primary ciliary dyskinesia","volume":"47","author":"Behan","year":"2016","journal-title":"Eur Respir J."},{"key":"10.1016\/j.arbres.2020.02.010_bib0275","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Genome analysis Trimmomatic: A flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics."},{"key":"10.1016\/j.arbres.2020.02.010_bib0405","unstructured":"Li H. Aligning sequence reads, clone sequences and assembly contigs with BWAMEM arXiv:1303.3997v2 [q-bio.GN] 2013;00:1-3"},{"key":"10.1016\/j.arbres.2020.02.010_bib0285","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: A MAPREDUCe framework for analyzing next-generation DNA sequencing data","volume":"20","author":"Mckenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.arbres.2020.02.010_bib0290","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.arbres.2020.02.010_bib0295","doi-asserted-by":"crossref","first-page":"2747","DOI":"10.1093\/bioinformatics\/bts526","article-title":"A robust model for read count data in exome sequencing experiments and implications for copy number variant calling","volume":"28","author":"Plagnol","year":"2012","journal-title":"Bioinformatics."},{"key":"10.1016\/j.arbres.2020.02.010_bib0300","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the description of sequence variants: 2016 Update","volume":"37","author":"Den Dunnen","year":"2016","journal-title":"Hum Mutat."},{"key":"10.1016\/j.arbres.2020.02.010_bib0305","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Standards and Guidelines Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"10.1016\/j.arbres.2020.02.010_bib0310","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ajhg.2013.06.009","article-title":"ARMC4 mutations cause primary ciliary dyskinesia with randomization of left\/right body asymmetry","volume":"93","author":"Hjeij","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.arbres.2020.02.010_bib0315","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ajhg.2012.11.003","article-title":"Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia","volume":"92","author":"Knowles","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.arbres.2020.02.010_bib0320","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","article-title":"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs","volume":"43","author":"Merveille","year":"2011","journal-title":"Nat Genet."},{"key":"10.1016\/j.arbres.2020.02.010_bib0325","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.22261","article-title":"Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms","volume":"34","author":"Antony","year":"2013","journal-title":"Hum Mutat."},{"key":"10.1016\/j.arbres.2020.02.010_bib0330","doi-asserted-by":"crossref","first-page":"8693","DOI":"10.1038\/s41598-019-45017-1","article-title":"Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil","volume":"9","author":"Olm","year":"2019","journal-title":"Sci Rep."},{"key":"10.1016\/j.arbres.2020.02.010_bib0335","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2008.061176","article-title":"Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia","volume":"46","author":"Failly","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.arbres.2020.02.010_bib0340","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1183\/09031936.00052014","article-title":"Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia","volume":"44","author":"Raidt","year":"2014","journal-title":"Eur Respir J."},{"key":"10.1016\/j.arbres.2020.02.010_bib0345","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.200601-084OC","article-title":"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects","volume":"174","author":"Hornef","year":"2006","journal-title":"Am J Respir Crit Care Med."},{"key":"10.1016\/j.arbres.2020.02.010_bib0350","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2008.10.001","article-title":"DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm","volume":"83","author":"Loges","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.arbres.2020.02.010_bib0355","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.ajhg.2013.07.013","article-title":"Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects","volume":"93","author":"Kott","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.arbres.2020.02.010_bib0360","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/ppul.23261","article-title":"An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia","volume":"509","author":"Djakow","year":"2016","journal-title":"Pediatr Pulmonol."},{"key":"10.1016\/j.arbres.2020.02.010_bib0365","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.jmoldx.2016.07.002","article-title":"Diagnosis of primary ciliary dyskinesia by a targeted next-generation sequencing panel molecular and clinical findings in italian patients","volume":"18","author":"Boaretto","year":"2016","journal-title":"J Mol Diagn"},{"key":"10.1016\/j.arbres.2020.02.010_bib0370","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1111\/cge.13661","article-title":"Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia","volume":"97","author":"Fassad","year":"2019","journal-title":"Clin Genet."},{"key":"10.1016\/j.arbres.2020.02.010_bib0375","article-title":"Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort","author":"Fassad","year":"2019","journal-title":"J Med Genet."},{"key":"10.1016\/j.arbres.2020.02.010_bib0380","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1136\/thoraxjnl-2015-208056","article-title":"The dangers of widespread nitric oxide screening for primary ciliary dyskinesia","volume":"71","author":"Collins","year":"2016","journal-title":"Thorax."},{"key":"10.1016\/j.arbres.2020.02.010_bib0385","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1080\/01913123.2017.1362088","article-title":"Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure","volume":"41","author":"Shapiro","year":"2017","journal-title":"Ultrastruct Pathol."},{"key":"10.1016\/j.arbres.2020.02.010_bib0390","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/j.ajhg.2018.03.025","article-title":"Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left\/right body asymmetry due to defects of outer and inner dynein arms","volume":"102","author":"H\u00f6ben","year":"2018","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.arbres.2020.02.010_bib0395","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1165\/rcmb.2019-0086OC","article-title":"SPEF2- and HYDIN-mutant cilia lack the central pair associated protein SPEF2 aiding PCD diagnostics","volume":"62","author":"Cindri\u0107","year":"2020","journal-title":"Am J Respir Cell Mol Biol."},{"key":"10.1016\/j.arbres.2020.02.010_bib0400","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1016\/j.ajhg.2019.09.022","article-title":"De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left\/right body asymmetry","volume":"105","author":"Wallmeier","year":"2019","journal-title":"Am J Hum Genet."}],"container-title":["Archivos de Bronconeumolog\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0300289620300739?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0300289620300739?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T22:39:12Z","timestamp":1759531152000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0300289620300739"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["S0300289620300739"],"URL":"https:\/\/doi.org\/10.1016\/j.arbres.2020.02.010","relation":{},"ISSN":["0300-2896"],"issn-type":[{"value":"0300-2896","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Implementaci\u00f3n de un panel de genes para el diagn\u00f3stico gen\u00e9tico de la discinesia ciliar primaria","name":"articletitle","label":"Article Title"},{"value":"Archivos de Bronconeumolog\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.arbres.2020.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 SEPAR. Published by Elsevier Espa\u00f1a, S.L.U. All rights reserved.","name":"copyright","label":"Copyright"}]}}