{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T18:55:34Z","timestamp":1790362534719,"version":"4.1.0"},"reference-count":85,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,6]]},"DOI":"10.1097\/mop.0000000000000358","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T17:22:43Z","timestamp":1461086563000},"page":"339-347","source":"Crossref","is-referenced-by-count":18,"title":["The evolving spectrum of ciliopathies and respiratory disease"],"prefix":"10.1097","volume":"28","author":[{"given":"Carlos E.","family":"Milla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-14-20210206","first-page":"3","article-title":"\u00dcber einen Fall von Bronchiectasie bei einem Patienten mit situs inversus viscerum","volume":"41","author":"Zivert","year":"1904","journal-title":"Berliner klinische Wochenschrift"},{"key":"R2-14-20210206","first-page":"13","article-title":"Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus","volume":"83","author":"Kartagener","year":"1933","journal-title":"Beitr\u00e4ge zur Klinik der Tuberkulose"},{"key":"R3-14-20210206","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1126\/science.1084576","article-title":"A human syndrome caused by immotile cilia","volume":"193","author":"Afzelius","year":"1976","journal-title":"Science"},{"key":"R4-14-20210206","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/262494a0","article-title":"Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome","volume":"262","author":"Pedersen","year":"1976","journal-title":"Nature"},{"key":"R5-14-20210206","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1056\/NEJM197707072970101","article-title":"The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility","volume":"297","author":"Eliasson","year":"1977","journal-title":"N Engl J Med"},{"key":"R6-14-20210206","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/0007-0971(80)90049-2","article-title":"Ciliary motility in the \u2019immotile cilia syndrome\u2019. First results of microphoto-oscillographic studies","volume":"74","author":"Pedersen","year":"1980","journal-title":"Br J Dis Chest"},{"key":"R7-14-20210206","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1086\/302683","article-title":"Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia","volume":"65","author":"Pennarun","year":"1999","journal-title":"Am J Hum Genet"},{"key":"R8-14-20210206","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1534\/g3.113.006338","article-title":"Identification of cilia genes that affect cell-cycle progression using whole-genome transcriptome analysis in Chlamydomonas reinhardtti","volume":"3","author":"Albee","year":"2013","journal-title":"G3 (Bethesda"},{"key":"R9-14-20210206","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.jgg.2016.02.001","article-title":"Zebrafish as a model for human ciliopathies","volume":"43","author":"Song","year":"2016","journal-title":"J Genet Genomics"},{"key":"R10-14-20210206","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/bs.mcb.2015.01.009","article-title":"The planarian Schmidtea mediterranea as a model for studying motile cilia and multiciliated cells","volume":"127","author":"Basquin","year":"2015","journal-title":"Methods Cell Biol"},{"key":"R11-14-20210206","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2014-102755","article-title":"Recent advances in primary ciliary dyskinesia genetics","volume":"52","author":"Kurkowiak","year":"2015","journal-title":"J Med Genet"},{"key":"R12-14-20210206","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.tig.2006.07.006","article-title":"Piecing together a ciliome","volume":"22","author":"Inglis","year":"2006","journal-title":"Trends Genet"},{"key":"R13-14-20210206","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s00418-008-0416-9","article-title":"Structure and function of mammalian cilia","volume":"129","author":"Satir","year":"2008","journal-title":"Histochem Cell Biol"},{"key":"R14-14-20210206","doi-asserted-by":"crossref","first-page":"4131","DOI":"10.1242\/dev.02595","article-title":"The roles of cilia in developmental disorders and disease","volume":"133","author":"Bisgrove","year":"2006","journal-title":"Development"},{"key":"R15-14-20210206","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.40.8.609","article-title":"RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections","volume":"40","author":"Zito","year":"2003","journal-title":"J Med Genet"},{"key":"R16-14-20210206","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":"R17-14-20210206","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00439-006-0210-5","article-title":"A novel Xlinked 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":"R18-14-20210206","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1002\/ajmg.a.37133","article-title":"Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia","volume":"167A","author":"Li","year":"2015","journal-title":"Am J Med Genet A"},{"key":"R19-14-20210206","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1172\/JCI0215217","article-title":"Mucus clearance as a primary innate defense mechanism for mammalian airways","volume":"109","author":"Knowles","year":"2002","journal-title":"J Clin Invest"},{"key":"R20-14-20210206","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.resp.2008.03.006","article-title":"Modelling mucociliary clearance","volume":"163","author":"Smith","year":"2008","journal-title":"Respir Physiol Neuro"},{"key":"R21-14-20210206","doi-asserted-by":"crossref","first-page":"4145","DOI":"10.1172\/JCI64240","article-title":"T2R38 taste receptor polymorphisms underlie susceptibility to upper respiratory infection","volume":"122","author":"Lee","year":"2012","journal-title":"J Clin Invest"},{"key":"R22-14-20210206","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1165\/rcmb.2013-0499MA","article-title":"An autoregulatory mechanism governing mucociliary transport is sensitive to mucus load","volume":"51","author":"Liu","year":"2014","journal-title":"Am J Respir Cell Mol Biol"},{"key":"R23-14-20210206","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1165\/rcmb.2012-0530OC","article-title":"Mechanisms of cilia-driven transport in the airways in the absence of mucus","volume":"51","author":"Bermbach","year":"2014","journal-title":"Am J Respir Cell Mol Biol"},{"key":"R24-14-20210206","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1146\/annurev.physiol.69.040705.141253","article-title":"Regulation of mammalian ciliary beating","volume":"69","author":"Salathe","year":"2007","journal-title":"Annu Rev Physiol"},{"key":"R25-14-20210206","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1006\/bbrc.1993.1187","article-title":"Modulation of airway epithelial cell ciliary beat frequency by nitric oxide","volume":"191","author":"Jain","year":"1993","journal-title":"Biochem Biophys Res Commun"},{"key":"R26-14-20210206","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1165\/rcmb.2014-0318OC","article-title":"The endoplasmic reticulum resident protein AGR3. Required for regulation of ciliary beat frequency in the airway","volume":"53","author":"Bonser","year":"2015","journal-title":"Am J Respir Cell Mol Biol"},{"key":"R27-14-20210206","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","article-title":"Factors influencing age at diagnosis of primary ciliary dyskinesia in European children","volume":"36","author":"Kuehni","year":"2010","journal-title":"Eur Respir J"},{"key":"R28-14-20210206","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1183\/09031936.97.10102376","article-title":"Longitudinal study of lung function in a cohort of primary ciliary dyskinesia","volume":"10","author":"Ellerman","year":"1997","journal-title":"Eur Respir J"},{"key":"R29-14-20210206","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"},{"key":"R30-14-20210206","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ppul.20792","article-title":"Early lung disease in young children with primary ciliary dyskinesia","volume":"43","author":"Brown","year":"2008","journal-title":"Pediatr Pulmonol"},{"key":"R31-14-20210206","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1164\/rccm.200811-1731OC","article-title":"Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study","volume":"181","author":"Marthin","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"R32-14-20210206","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ppul.21402","article-title":"Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience","volume":"46","author":"Olin","year":"2011","journal-title":"Pediatr Pulmonol"},{"key":"R33-14-20210206","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1056\/NEJM199012133232410","article-title":"Ciliary dysmorphology and dysfunction\u2013primary or acquired?","volume":"323","author":"Boat","year":"1990","journal-title":"N Engl J Med"},{"key":"R34-14-20210206","doi-asserted-by":"crossref","first-page":"5727","DOI":"10.1038\/ncomms6727","article-title":"Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia","volume":"5","author":"Lin","year":"2014","journal-title":"Nat Commun"},{"key":"R35-14-20210206","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/humu.20656","article-title":"Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations","volume":"29","author":"Schwabe","year":"2008","journal-title":"Hum Mutat"},{"key":"R37-14-20210206","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0091-679X(08)91007-4","article-title":"Immunofluorescence staining of ciliated respiratory epithelial cells","volume":"91","author":"Omran","year":"2009","journal-title":"Methods Cell Biol"},{"key":"R38-14-20210206","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1165\/rcmb.2014-0483OC","article-title":"Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects","volume":"53","author":"Frommer","year":"2015","journal-title":"Am J Respir Cell Mol Biol"},{"key":"R39-14-20210206","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/thx.2007.083147","article-title":"Diagnosing primary ciliary dyskinesia","volume":"62","author":"O\u2019Callaghan","year":"2007","journal-title":"Thorax"},{"key":"R40-14-20210206","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1136\/thorax.58.4.333","article-title":"Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults","volume":"58","author":"Chilvers","year":"2003","journal-title":"Thorax"},{"key":"R41-14-20210206","doi-asserted-by":"crossref","first-page":"96570","DOI":"10.1183\/09031936.01.00093001","article-title":"The effects of coronavirus on human nasal ciliated respiratory epithelium","volume":"18","author":"Chilvers","year":"2001","journal-title":"Eur Respir J"},{"key":"R42-14-20210206","first-page":"4939","article-title":"Pneumolysin causes cyotoxicity and ciliary stasis in human respiratory epithelial cells","volume":"44","author":"Hazime","year":"2014","journal-title":"Eur Respir J"},{"key":"R43-14-20210206","first-page":"S48","article-title":"Identification of distinct ciliary beat pattern abnormalities by high-speed video microscopy in primary ciliary dyskinesia","volume":"49","author":"Raidt","year":"2014","journal-title":"Pediatr Pulmonol"},{"key":"R44-14-20210206","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":"R45-14-20210206","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/2046-2530-1-14","article-title":"ciliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software","volume":"1","author":"Smith","year":"2012","journal-title":"Cilia"},{"key":"R47-14-20210206","doi-asserted-by":"crossref","first-page":"299ra124","DOI":"10.1126\/scitranslmed.aaa1233","article-title":"Automated identification of abnormal respiratory ciliary motion in nasal biopsies","volume":"7","author":"Quinn","year":"2015","journal-title":"Sci Transl Med"},{"key":"R48-14-20210206","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1146\/annurev.physiol.69.040705.141301","article-title":"Genetic defects in ciliary structure and function","volume":"69","author":"Zariwala","year":"2007","journal-title":"Annu Rev Physiol"},{"key":"R49-14-20210206","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1513\/AnnalsATS.201306-194OC","article-title":"The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia","volume":"11","author":"Kim","year":"2014","journal-title":"Ann Am Thorac Soc"},{"key":"R50-14-20210206","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":"R51-14-20210206","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2013.08.015","article-title":"Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia","volume":"93","author":"Austin-Tse","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R52-14-20210206","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng.2277","article-title":"CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms","volume":"44","author":"Panizzi","year":"2012","journal-title":"Nat Genet"},{"key":"R53-14-20210206","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":"R54-14-20210206","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ajhg.2014.08.005","article-title":"CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation","volume":"95","author":"Hjeij","year":"2014","journal-title":"Am J Hum Genet"},{"key":"R55-14-20210206","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng.2533","article-title":"The nexindynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans","volume":"45","author":"Wirschell","year":"2013","journal-title":"Nat Genet"},{"key":"R56-14-20210206","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":"R57-14-20210206","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1136\/jmedgenet-2012-100867","article-title":"Delineation of CCDC39\/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia","volume":"49","author":"Blanchon","year":"2012","journal-title":"J Med Genet"},{"key":"R58-14-20210206","doi-asserted-by":"crossref","first-page":"4418","DOI":"10.1038\/ncomms5418","article-title":"MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"5","author":"Boon","year":"2014","journal-title":"Nat Commun"},{"key":"R59-14-20210206","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/j.ajhg.2009.11.008","article-title":"Loss-offunction mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia","volume":"85","author":"Duquesnoy","year":"2009","journal-title":"Am J Hum Genet"},{"key":"R60-14-20210206","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nature07471","article-title":"Ktu\/PF13 is required for cytoplasmic preassembly of axonemal dyneins","volume":"456","author":"Omran","year":"2008","journal-title":"Nature"},{"key":"R61-14-20210206","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng.1106","article-title":"Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia","volume":"44","author":"Mitchison","year":"2012","journal-title":"Nat Genet"},{"key":"R62-14-20210206","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2012.08.022","article-title":"Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia","volume":"91","author":"Horani","year":"2012","journal-title":"Am J Hum Genet"},{"key":"R63-14-20210206","first-page":"51","article-title":"Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella","volume":"2","author":"Ben Khelifa","year":"2014","journal-title":"Andrology"},{"key":"R64-14-20210206","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1165\/ajrcmb.23.5.4257","article-title":"Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene","volume":"23","author":"Omran","year":"2000","journal-title":"Am J Respir Cell Mol Biol"},{"key":"R65-14-20210206","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/humu.22490","article-title":"Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface","volume":"35","author":"Watson","year":"2014","journal-title":"Hum Mutat"},{"key":"R66-14-20210206","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1091\/mbc.e11-03-0271","article-title":"The CSC is required for complete radial spoke assembly and wild-type ciliary motility","volume":"22","author":"Dymek","year":"2011","journal-title":"Mol Biol Cell"},{"key":"R67-14-20210206","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.ajhg.2011.03.018","article-title":"Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1","volume":"88","author":"Mazor","year":"2011","journal-title":"Am J Hum Genet"},{"key":"R68-14-20210206","doi-asserted-by":"crossref","first-page":"9951003","DOI":"10.1038\/ng.2707","article-title":"DYX1C1 is required for axonemal dynein assembly and ciliary motility","volume":"45","author":"Tarkar","year":"2013","journal-title":"Nat Genet"},{"key":"R69-14-20210206","first-page":"3775","article-title":"A role for Gas8 in left-right asymmetry and motile and primary cilia","volume":"24","author":"Lewis","year":"2013","journal-title":"Mol Biol Cell"},{"key":"R70-14-20210206","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","article-title":"Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry","volume":"91","author":"Olbrich","year":"2012","journal-title":"Am J Hum Genet"},{"key":"R71-14-20210206","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.ajhg.2012.10.003","article-title":"Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia","volume":"91","author":"Kott","year":"2012","journal-title":"Am J Hum Genet"},{"key":"R72-14-20210206","doi-asserted-by":"crossref","first-page":"3336","DOI":"10.1073\/pnas.0611405104","article-title":"A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia","volume":"104","author":"Duriez","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R73-14-20210206","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":"R74-14-20210206","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ajhg.2015.05.004","article-title":"RSPH3 mutations cause primary ciliary dyskinesia with central-complex defects and a near absence of radial spokes","volume":"97","author":"Jeanson","year":"2015","journal-title":"Am J Hum Genet"},{"key":"R75-14-20210206","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ajhg.2009.01.011","article-title":"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities","volume":"84","author":"Castleman","year":"2009","journal-title":"Am J Hum Genet"},{"key":"R76-14-20210206","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.ajhg.2013.07.025","article-title":"Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms","volume":"93","author":"Knowles","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R77-14-20210206","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.ajhg.2013.06.007","article-title":"ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6","volume":"93","author":"Zariwala","year":"2013","journal-title":"Am J Hum Genet"},{"key":"R78-14-20210206","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1534\/g3.115.019851","article-title":"Whole exome sequencing and targeted copy number analysis in primary ciliary dyskinesia","volume":"5","author":"Marshall","year":"2015","journal-title":"G3 (Bethesda"},{"key":"R79-14-20210206","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1378\/chest.13-0159","article-title":"Ciliated cultures from patients with primary ciliary dyskinesia do not produce nitric oxide or inducible nitric oxide synthase during early infection","volume":"144","author":"Smith","year":"2013","journal-title":"Chest"},{"key":"R80-14-20210206","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1111\/j.1748-1716.1994.tb09826.x","article-title":"Nasally exhaled nitric-oxide in humans originates mainly in the paranasal sinuses","volume":"152","author":"Lundberg","year":"1994","journal-title":"Acta Physiol Scand"},{"key":"R81-14-20210206","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1183\/09031936.94.07081501","article-title":"Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome","volume":"7","author":"Lundberg","year":"1994","journal-title":"Eur Respir J"},{"key":"R82-14-20210206","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1164\/rccm.200406-710ST","article-title":"ATSERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005.","volume":"171","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"R83-14-20210206","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1513\/AnnalsATS.201305-110OC","article-title":"Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia","volume":"10","author":"Leigh","year":"2013","journal-title":"Ann Am Thorac Soc"},{"key":"R84-14-20210206","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1183\/13993003.00749-2015","article-title":"Accuracy of diagnostic testing in primary ciliary dyskinesia","volume":"46","author":"Jackson","year":"2016","journal-title":"Eur Respir J"},{"key":"R85-14-20210206","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.rmed.2015.07.010","article-title":"Establishing normative nasal nitric oxide values in infants","volume":"109","author":"Adams","year":"2015","journal-title":"Respir Med"},{"key":"R86-14-20210206","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1164\/rccm.201409-1672OC","article-title":"Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype","volume":"191","author":"Davis","year":"2015","journal-title":"Am J Respir Crit Care Med"},{"key":"R87-14-20210206","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1542\/peds.2014-0808","article-title":"Primary ciliary dyskinesia and neonatal respiratory distress","volume":"134","author":"Mullowney","year":"2014","journal-title":"Pediatrics"}],"container-title":["Current Opinion in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MOP.0000000000000358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T03:30:51Z","timestamp":1620963051000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00008480-201606000-00014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":85,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.1097\/mop.0000000000000358","relation":{},"ISSN":["1040-8703"],"issn-type":[{"value":"1040-8703","type":"print"}],"subject":[],"published":{"date-parts":[[2016,6]]}}}