{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:49:52Z","timestamp":1793674192345,"version":"4.5.1"},"reference-count":212,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004870","name":"University of M\u00fcnster Faculty of Medicine","doi-asserted-by":"publisher","award":["Om2\/015\/16"],"award-info":[{"award-number":["Om2\/015\/16"]}],"id":[{"id":"10.13039\/501100004870","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004870","name":"University of M\u00fcnster Faculty of Medicine","doi-asserted-by":"publisher","award":["OM2\/010\/20"],"award-info":[{"award-number":["OM2\/010\/20"]}],"id":[{"id":"10.13039\/501100004870","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004870","name":"University of M\u00fcnster Faculty of Medicine","doi-asserted-by":"publisher","award":["Om2\/009\/12"],"award-info":[{"award-number":["Om2\/009\/12"]}],"id":[{"id":"10.13039\/501100004870","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["CRU326"],"award-info":[{"award-number":["CRU326"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["-14"],"award-info":[{"award-number":["-14"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["RA3522\/1"],"award-info":[{"award-number":["RA3522\/1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["OM6\/7"],"award-info":[{"award-number":["OM6\/7"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["OL450\/3"],"award-info":[{"award-number":["OL450\/3"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009379","name":"Interdisziplin\u00e4res Zentrum f\u00fcr Klinische Forschung, Universit\u00e4tsklinikum W\u00fcrzburg","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009379","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["La Presse M\u00e9dicale"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.lpm.2023.104171","type":"journal-article","created":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T21:18:51Z","timestamp":1690492731000},"page":"104171","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":55,"title":["Primary ciliary dyskinesia"],"prefix":"10.1016","volume":"52","author":[{"given":"Johanna","family":"Raidt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki Tomas","family":"Loges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wallmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Pennekamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0282-6765","authenticated-orcid":false,"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.lpm.2023.104171_bib0001","first-page":"139","article-title":"Ueber einen Fall von Bronchiectasis bei einem Patienten mit Situs viscerum inversus","volume":"41","author":"Siewert","year":"1903","journal-title":"Berl. Klin. Wchnschr."},{"key":"10.1016\/j.lpm.2023.104171_bib0002","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/BF02141468","article-title":"Zur pathogenese der bronchiektasien","volume":"83","author":"Kartagener","year":"1933","journal-title":"Beitr\u00e4ge zur Klinik der Tuberkulose und spezifischen Tuberkulose-Forschung"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0003","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1083\/jcb.5.2.269","article-title":"Electron microscopy of the sperm tail; results obtained with a new fixative","volume":"5","author":"AFZELIUS","year":"1959","journal-title":"J Biophys Biochem Cytol"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0004","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1083\/jcb.66.2.225","article-title":"Lack of dynein arms in immotile human spermatozoa","volume":"66","author":"Afzelius","year":"1975","journal-title":"J Cell Biol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0005","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1007\/s00247-003-1072-9","article-title":"Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius","volume":"34","author":"Berdon","year":"2004","journal-title":"Pediatr Radiol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13630-014-0010-9","article-title":"Situs inversus and ciliary abnormalities: 20 years later, what is the connection?","volume":"4","author":"Pennekamp","year":"2015","journal-title":"Cilia"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0007","first-page":"807","article-title":"Evidence of congenitally nonfunctioning cilia in the tracheobronchial tract in two subjects","volume":"112","author":"Camner","year":"1975","journal-title":"Am Rev Respir Dis"},{"issue":"4250","key":"10.1016\/j.lpm.2023.104171_bib0008","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"},{"issue":"5568","key":"10.1016\/j.lpm.2023.104171_bib0009","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"},{"issue":"8182","key":"10.1016\/j.lpm.2023.104171_bib0010","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/S0140-6736(80)91807-3","article-title":"Motile cilia in\" immotile cilia\" syndrome","volume":"315","author":"Rossman","year":"1980","journal-title":"Lancet"},{"issue":"8244","key":"10.1016\/j.lpm.2023.104171_bib0011","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/S0140-6736(81)90811-4","article-title":"Primary ciliary dyskinesia","volume":"2","author":"Sleigh","year":"1981","journal-title":"Lancet"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0012","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"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0013","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng817","article-title":"Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry","volume":"30","author":"Olbrich","year":"2002","journal-title":"Nat Genet"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0014","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(00)81705-5","article-title":"Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein","volume":"95","author":"Nonaka","year":"1998","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0015","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S1097-2765(00)80197-5","article-title":"Abnormal nodal flow precedes situs inversus in iv and inv mice","volume":"4","author":"Okada","year":"1999","journal-title":"Mol Cell"},{"issue":"6893","key":"10.1016\/j.lpm.2023.104171_bib0016","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/nature00849","article-title":"Determination of left-right patterning of the mouse embryo by artificial nodal flow","volume":"418","author":"Nonaka","year":"2002","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0017","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0092-8674(03)00511-7","article-title":"Two populations of node monocilia initiate left-right asymmetry in the mouse","volume":"114","author":"McGrath","year":"2003","journal-title":"Cell"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0018","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1164\/rccm.200411-1583OC","article-title":"Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia","volume":"171","author":"Fliegauf","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0019","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.tig.2006.03.002","article-title":"Novel tools to unravel molecular mechanisms in cilia-related disorders","volume":"22","author":"Fliegauf","year":"2006","journal-title":"Trends Genet"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0020","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/j.chest.2018.05.007","article-title":"Advances in the genetics of primary ciliary dyskinesia: clinical implications","volume":"154","author":"Horani","year":"2018","journal-title":"Chest"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0021","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","article-title":"Primary ciliary dyskinesia in the genomics age","volume":"8","author":"Lucas","year":"2020","journal-title":"Lancet Respir Med"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0022","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/s41572-020-0209-6","article-title":"Motile ciliopathies","volume":"6","author":"Wallmeier","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.lpm.2023.104171_bib0023","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.semcdb.2020.11.007","article-title":"Motile cilia and airway disease","volume":"110","author":"Legendre","year":"2021","journal-title":"Semin Cell Dev Biol"},{"issue":"9","key":"10.1016\/j.lpm.2023.104171_bib0024","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.lpm.2023.104171_bib0025","article-title":"Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: a review of literature","volume":"13","author":"Wang","year":"2022","journal-title":"Front Genet"},{"key":"10.1016\/j.lpm.2023.104171_bib0026","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.gde.2019.05.004","article-title":"The photoreceptor cilium and its diseases","volume":"56","author":"Bachmann-Gagescu","year":"2019","journal-title":"Curr Opin Genet Dev"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0027","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1016\/j.ajhg.2018.10.020","article-title":"Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects","volume":"103","author":"Loges","year":"2018","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0028","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1165\/rcmb.2015-0353OC","article-title":"DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes","volume":"55","author":"Dougherty","year":"2016","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0029","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"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0030","doi-asserted-by":"crossref","DOI":"10.1093\/molehr\/gaab009","article-title":"Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system","volume":"27","author":"Aprea","year":"2021","journal-title":"Mol Hum Reprod"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0031","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/nrm.2017.21","article-title":"The development and functions of multiciliated epithelia","volume":"18","author":"Spassky","year":"2017","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.lpm.2023.104171_bib0032","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.semcdb.2020.04.007","article-title":"Transcriptional regulation of multiciliated cell differentiation","volume":"110","author":"Lewis","year":"2021","journal-title":"Semin Cell Dev Biol"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0033","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/ng.2961","article-title":"Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"46","author":"Wallmeier","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.lpm.2023.104171_bib0034","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"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0035","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1016\/j.ajhg.2021.05.002","article-title":"Mutations in TP73 cause impaired mucociliary clearance and lissencephaly","volume":"108","author":"Wallmeier","year":"2021","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0036","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"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0037","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/s41591-019-0730-x","article-title":"A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance","volume":"26","author":"Chivukula","year":"2020","journal-title":"Nat Med"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0038","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.c.31972","article-title":"The role of cilia for hydrocephalus formation","volume":"190","author":"Wallmeier","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0039","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0040","doi-asserted-by":"crossref","DOI":"10.3390\/cells11010125","article-title":"Impact of motile ciliopathies on human development and clinical consequences in the newborn","volume":"11","author":"Hyland","year":"2021","journal-title":"Cells"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0041","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009306","article-title":"Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility","volume":"17","author":"Aprea","year":"2021","journal-title":"PLoS Genet"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0042","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S2213-2600(21)00453-7","article-title":"The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis","volume":"10","author":"Hannah","year":"2022","journal-title":"Lancet Respir Med"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0043","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1080\/07853890510011985","article-title":"Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics","volume":"37","author":"Storm van's Gravesande","year":"2005","journal-title":"Ann Med"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0044","article-title":"Primary ciliary dyskinesia: a major player in a bigger game","volume":"16","author":"Bhatt","year":"2020","journal-title":"Breathe (Sheff)"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0045","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/adc.59.8.704","article-title":"Primary ciliary dyskinesia","volume":"59","author":"Greenstone","year":"1984","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.lpm.2023.104171_bib0046","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3389\/fped.2017.00135","article-title":"Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies","volume":"5","author":"Mirra","year":"2017","journal-title":"Front Pediatr"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0047","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1186\/s43159-022-00221-z","article-title":"Primary ciliary dyskinesia: a rare and often underdiagnosed disease","volume":"51","author":"Shah","year":"2022","journal-title":"Pediatr Ann"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0048","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1055\/a-1235-1520","article-title":"Management of primary ciliary dyskinesia","volume":"74","author":"Raidt","year":"2020","journal-title":"Pneumologie"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0049","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1513\/AnnalsATS.202203-253RL","article-title":"HYDIN variants are a common cause of primary ciliary dyskinesia in French Canadians","volume":"20","author":"Shapiro","year":"2023","journal-title":"Ann Am Thorac Soc"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0050","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.201907-1334LE","article-title":"The controversies and difficulties of diagnosing primary ciliary dyskinesia","volume":"201","author":"Shoemark","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0051","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00176-2022","article-title":"Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis","volume":"60","author":"Shoemark","year":"2022","journal-title":"Eur Respir J"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0052","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1365-2273.1982.tb01400.x","article-title":"Rhinitis, sinusitis and otitis media in Kartagener's syndrome (primary ciliary dyskinesia)","volume":"7","author":"Pedersen","year":"1982","journal-title":"Clin Otolaryngol Allied Sci"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0053","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1002\/ajmg.c.31967","article-title":"Chronic airway disease in primary ciliary dyskinesia-spiced with geno-phenotype associations","volume":"190","author":"Nielsen","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0054","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13630-014-0011-8","article-title":"Diagnosis and management of primary ciliary dyskinesia","volume":"4","author":"Werner","year":"2015","journal-title":"Cilia"},{"key":"10.1016\/j.lpm.2023.104171_bib0055","unstructured":"Zariwala M.A., Knowles M.R., Leigh M.W. GeneReviews\u00ae: primary ciliary dyskinesia. Seattle (WA); 1993."},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0056","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02359-2020","article-title":"Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia","volume":"58","author":"Shoemark","year":"2021","journal-title":"Eur Respir J"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0057","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1513\/AnnalsATS.201511-748OC","article-title":"Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents","volume":"13","author":"Leigh","year":"2016","journal-title":"Ann Am Thorac Soc"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0058","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1183\/13993003.00736-2016","article-title":"Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis","volume":"48","author":"Goutaki","year":"2016","journal-title":"Eur Respir J"},{"issue":"15","key":"10.1016\/j.lpm.2023.104171_bib0059","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22158272","article-title":"Emerging genotype-phenotype relationships in primary ciliary dyskinesia","volume":"22","author":"Brennan","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0060","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","article-title":"Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease","volume":"188","author":"Knowles","year":"2013","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.lpm.2023.104171_bib0061","first-page":"3","article-title":"When to suspect primary ciliary dyskinesia in children","volume":"18","author":"Fitzgerald","year":"2016","journal-title":"Paediatr Respir Rev"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0062","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"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0063","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1378\/chest.13-1704","article-title":"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"},{"issue":"18","key":"10.1016\/j.lpm.2023.104171_bib0064","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1161\/CIRCULATIONAHA.111.079780","article-title":"High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy","volume":"125","author":"Nakhleh","year":"2012","journal-title":"Circulation"},{"issue":"22","key":"10.1016\/j.lpm.2023.104171_bib0065","doi-asserted-by":"crossref","first-page":"2814","DOI":"10.1161\/CIRCULATIONAHA.106.649038","article-title":"Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia","volume":"115","author":"Kennedy","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.lpm.2023.104171_bib0066","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.119.002686","article-title":"Randomization of left-right asymmetry and congenital heart defects: the role of DNAH5 in humans and mice","author":"N\u00f6the-Menchen","year":"2019","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.lpm.2023.104171_bib0067","article-title":"Laterality defects in primary ciliary dyskinesia: relationship to ultrastructural defect or genotype","author":"Barber","year":"2022","journal-title":"Ann Am Thorac Soc"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0068","doi-asserted-by":"crossref","DOI":"10.3390\/jcm8050619","article-title":"Critical evaluation of sinonasal disease in 64 adults with primary ciliary dyskinesia","volume":"8","author":"Bequignon","year":"2019","journal-title":"J Clin Med"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0069","doi-asserted-by":"crossref","first-page":"e130","DOI":"10.1055\/s-0042-1749392","article-title":"Computed tomography evaluation of the paranasal sinuses in adults with primary ciliary dyskinesia","volume":"27","author":"Plantier","year":"2023","journal-title":"Int Arch Otorhinolaryngol"},{"key":"10.1016\/j.lpm.2023.104171_bib0070","first-page":"33","article-title":"The impact of primary ciliary dyskinesia on the upper respiratory tract","volume":"18","author":"Morgan","year":"2016","journal-title":"Paediatr Respir Rev"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0071","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0191457","article-title":"Computed tomography in adult patients with primary ciliary dyskinesia: typical imaging findings","volume":"13","author":"Dettmer","year":"2018","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0072","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.2214\/AJR.06.0965","article-title":"High-resolution CT of patients with primary ciliary dyskinesia","volume":"188","author":"Kennedy","year":"2007","journal-title":"AJR Am J Roentgenol"},{"key":"10.1016\/j.lpm.2023.104171_bib0073","doi-asserted-by":"crossref","DOI":"10.1093\/humupd\/dmad003","article-title":"The impact of primary ciliary dyskinesia on female and male fertility: a narrative review","author":"Newman","year":"2023","journal-title":"Hum Reprod Update"},{"issue":"9","key":"10.1016\/j.lpm.2023.104171_bib0074","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics11091550","article-title":"Diagnostics and management of male infertility in primary ciliary dyskinesia","volume":"11","author":"Jayasena","year":"2021","journal-title":"Diagnostics"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0075","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00314-2017","article-title":"Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association","volume":"50","author":"Vanaken","year":"2017","journal-title":"Eur Respir J"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0076","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"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0077","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1007\/s00018-019-03389-7","article-title":"Sperm defects in primary ciliary dyskinesia and related causes of male infertility","volume":"77","author":"Sironen","year":"2020","journal-title":"Cell Mol Life Sci"},{"issue":"7222","key":"10.1016\/j.lpm.2023.104171_bib0078","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nature07471","article-title":"Ktu\/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins","volume":"456","author":"Omran","year":"2008","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0079","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ajhg.2016.11.019","article-title":"Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects","volume":"100","author":"Paff","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0080","doi-asserted-by":"crossref","first-page":"2871","DOI":"10.1093\/humrep\/dev227","article-title":"Ciliary function and motor protein composition of human fallopian tubes","volume":"30","author":"Raidt","year":"2015","journal-title":"Hum Reprod"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0081","doi-asserted-by":"crossref","first-page":"e482","DOI":"10.1212\/NXG.0000000000000482","article-title":"Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation","volume":"6","author":"Robson","year":"2020","journal-title":"Neurol Genet"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0082","doi-asserted-by":"crossref","first-page":"e1726","DOI":"10.1002\/mgg3.1726","article-title":"Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus","volume":"9","author":"Shapiro","year":"2021","journal-title":"Mol Genet Genomic Med"},{"issue":"9","key":"10.1016\/j.lpm.2023.104171_bib0083","doi-asserted-by":"crossref","first-page":"e911","DOI":"10.1002\/mgg3.911","article-title":"The expanding phenotype of OFD1-related disorders: hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia","volume":"7","author":"Hannah","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0084","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"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0085","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmedgenet-2018-105918","article-title":"Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms","volume":"56","author":"Bukowy-Bieryllo","year":"2019","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0086","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"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0087","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":"17","key":"10.1016\/j.lpm.2023.104171_bib0088","doi-asserted-by":"crossref","DOI":"10.3390\/jcm11175163","article-title":"Otological manifestations in adults with primary ciliary dyskinesia: a controlled radio-clinical study","volume":"11","author":"Alexandru","year":"2022","journal-title":"J Clin Med"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0089","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ppul.24249","article-title":"CF derived scoring systems do not fully describe the range of structural changes seen on CT scans in PCD","volume":"54","author":"Tadd","year":"2019","journal-title":"Pediatr Pulmonol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0090","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.chest.2020.02.001","article-title":"Lung function longitudinal study by phenotype and genotype in primary ciliary dyskinesia","volume":"158","author":"Pifferi","year":"2020","journal-title":"Chest"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0091","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1164\/rccm.201803-0548OC","article-title":"Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype","volume":"199","author":"Davis","year":"2019","journal-title":"Am J Respir Crit Care Med"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0092","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1513\/AnnalsATS.202206-524OC","article-title":"Airway disease in children with primary ciliary dyskinesia: impact of ciliary ultrastructure defect and genotype","volume":"20","author":"Kinghorn","year":"2023","journal-title":"Ann Am Thorac Soc"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0093","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"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0094","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"},{"issue":"16","key":"10.1016\/j.lpm.2023.104171_bib0095","doi-asserted-by":"crossref","first-page":"10282","DOI":"10.1073\/pnas.152337699","article-title":"Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia","volume":"99","author":"Bartoloni","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.lpm.2023.104171_bib0096","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"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0097","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1136\/jmedgenet-2019-106501","article-title":"Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort","volume":"57","author":"Fassad","year":"2020","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0098","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1002\/humu.24196","article-title":"Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: an island with a high disease prevalence","volume":"42","author":"Yiallouros","year":"2021","journal-title":"Hum Mutat"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0099","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/s10038-021-01006-9","article-title":"Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients","volume":"67","author":"Mabrouk","year":"2022","journal-title":"J Hum Genet"},{"issue":"7809","key":"10.1016\/j.lpm.2023.104171_bib0100","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.lpm.2023.104171_bib0101","first-page":"18","article-title":"Genetics and biology of primary ciliary dyskinesia","volume":"18","author":"Horani","year":"2016","journal-title":"Paediatr Respir Rev"},{"issue":"1\u20132","key":"10.1016\/j.lpm.2023.104171_bib0102","first-page":"51","article-title":"Primary ciliary dyskinesia (PCD): a genetic disorder of motile cilia","volume":"4","author":"Leigh","year":"2019","journal-title":"Transl Sci Rare Dis"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0103","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"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0104","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"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0105","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"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0106","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation","volume":"43","author":"Becker-Heck","year":"2011","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0107","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/thoraxjnl-2018-212104","article-title":"Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia","volume":"74","author":"Best","year":"2019","journal-title":"Thorax"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0108","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"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0109","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"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0110","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"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0111","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 primary ciliary dyskinesia diagnostics","volume":"62","author":"Cindri\u0107","year":"2020","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0112","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1002\/humu.23261","article-title":"Mutation of serine\/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect","volume":"38","author":"Edelbusch","year":"2017","journal-title":"Hum Mutat"},{"key":"10.1016\/j.lpm.2023.104171_bib0113","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2023.1117821","article-title":"Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility","volume":"14","author":"Aprea","year":"2023","journal-title":"Front Genet"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0114","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1651-2227.2002.tb03299.x","article-title":"Primary ciliary dyskinesia: age at diagnosis and symptom history","volume":"91","author":"Coren","year":"2002","journal-title":"Acta Paediatr"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0115","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"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0116","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"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0117","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"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"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0118","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01066-2019","article-title":"ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis","volume":"54","author":"Shoemark","year":"2019","journal-title":"Eur Respir J"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0119","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00528-2019","article-title":"Time trends in diagnostic testing for primary ciliary dyskinesia in Europe","volume":"54","author":"Halbeisen","year":"2019","journal-title":"Eur Respir J"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0120","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00353-2021","article-title":"Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms","volume":"7","author":"Nussbaumer","year":"2021","journal-title":"ERJ Open Res"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0121","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1046\/j.1365-2273.1997.00895.x","article-title":"Otological manifestations of primary ciliary dyskinesia","volume":"22","author":"el-Sayed","year":"1997","journal-title":"Clin Otolaryngol Allied Sci"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0122","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/j.ijporl.2005.02.013","article-title":"Hearing outcomes in children with primary ciliary dyskinesia\u2013a longitudinal study","volume":"69","author":"Majithia","year":"2005","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0123","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1001\/archoto.2010.183","article-title":"Otologic features in children with primary ciliary dyskinesia","volume":"136","author":"Pruli\u00e8re-Escabasse","year":"2010","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0124","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s00405-010-1341-9","article-title":"ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities","volume":"268","author":"Sommer","year":"2011","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"10.1016\/j.lpm.2023.104171_bib0125","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ijporl.2017.11.005","article-title":"Hearing loss in children with primary ciliary dyskinesia","volume":"104","author":"Kreicher","year":"2018","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"10","key":"10.1016\/j.lpm.2023.104171_bib0126","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2021-051433","article-title":"Study protocol: the ear-nose-throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)","volume":"11","author":"Goutaki","year":"2021","journal-title":"BMJ Open"},{"key":"10.1016\/j.lpm.2023.104171_bib0127","first-page":"39","article-title":"Treatment recommendations in primary ciliary dyskinesia","volume":"18","author":"Polineni","year":"2016","journal-title":"Paediatr Respir Rev"},{"issue":"10","key":"10.1016\/j.lpm.2023.104171_bib0128","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1080\/17476348.2017.1360770","article-title":"Clinical care of children with primary ciliary dyskinesia","volume":"11","author":"Lucas","year":"2017","journal-title":"Expert Rev Respir Med"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0129","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00301-2021","article-title":"International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives","volume":"7","author":"Marthin","year":"2021","journal-title":"ERJ Open Res"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0130","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":"2","key":"10.1016\/j.lpm.2023.104171_bib0131","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ppul.23304","article-title":"Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review","volume":"51","author":"Shapiro","year":"2016","journal-title":"Pediatr Pulmonol"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0132","article-title":"Evaluation of a clinical index as a predictive tool for primary ciliary dyskinesia","volume":"11","author":"Martin\u016f","year":"2021","journal-title":"Diagnostics (Basel)"},{"issue":"Suppl 56","key":"10.1016\/j.lpm.2023.104171_bib0133","article-title":"Clinical index to evaluate the risk of primary ciliary dyskinesia in children","volume":"40","author":"Djakow","year":"2012","journal-title":"European Respiratory Journal"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0134","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"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0135","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1007\/s10875-019-00613-8","article-title":"Nasal nitric oxide in primary immunodeficiency and primary ciliary dyskinesia: helping to distinguish between clinically similar diseases","volume":"39","author":"Zysman-Colman","year":"2019","journal-title":"J Clin Immunol"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0136","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2022-248812","article-title":"Coexistence of pan-hypogammaglobulinaemia and primary ciliary dyskinesia","volume":"15","author":"S Kumar","year":"2022","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.lpm.2023.104171_bib0137","doi-asserted-by":"crossref","DOI":"10.1016\/j.rmed.2023.107169","article-title":"Cystic fibrosis and primary ciliary dyskinesia: similarities and differences","volume":"209","author":"Pereira","year":"2023","journal-title":"Respir Med"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0138","doi-asserted-by":"crossref","first-page":"271","DOI":"10.23822\/EurAnnACI.1764-1489.151","article-title":"Primary immunodeficiency disorders in children with non-cystic fibrosis bronchiectasis","volume":"52","author":"\u00c7a\u011fda\u015f","year":"2020","journal-title":"Eur Ann Allergy Clin Immunol"},{"key":"10.1016\/j.lpm.2023.104171_bib0139","doi-asserted-by":"crossref","DOI":"10.1155\/2011\/843763","article-title":"Allergic bronchopulmonary aspergillosis in asthma and cystic fibrosis","volume":"2011","author":"Knutsen","year":"2011","journal-title":"Clin Dev Immunol"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0140","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1002\/ppul.25945","article-title":"Primary ciliary dyskinesia and fungal infections: two cases of allergic bronchopulmonary aspergillosis in children","volume":"57","author":"Allaer","year":"2022","journal-title":"Pediatr Pulmonol"},{"issue":"4, Supplement","key":"10.1016\/j.lpm.2023.104171_bib0141","doi-asserted-by":"crossref","first-page":"A2","DOI":"10.1016\/j.chest.2021.07.059","article-title":"Recurrent allergic bronchopulmonary aspergillosis in a heart transplant patient with heterotaxy","volume":"160","author":"Russo","year":"2021","journal-title":"Chest"},{"key":"10.1016\/j.lpm.2023.104171_bib0142","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2015-211493","article-title":"Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome","volume":"2015","author":"Sehgal","year":"2015","journal-title":"BMJ Case Rep"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0143","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01464-2017","article-title":"Novel magnetic resonance technique for functional imaging of cystic fibrosis lung disease","volume":"50","author":"Nyilas","year":"2017","journal-title":"Eur Respir J"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0144","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1513\/AnnalsATS.201712-967OC","article-title":"Structural and functional lung impairment in primary ciliary dyskinesia. Assessment with magnetic resonance imaging and multiple breath washout in comparison to spirometry","volume":"15","author":"Nyilas","year":"2018","journal-title":"Ann Am Thorac Soc"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0145","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01918-2021","article-title":"Lung function from school age to adulthood in primary ciliary dyskinesia","volume":"60","author":"Halbeisen","year":"2022","journal-title":"Eur Respir J"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0146","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1136\/thoraxjnl-2011-200726","article-title":"Ventilation inhomogeneity in children with primary ciliary dyskinesia","volume":"67","author":"Green","year":"2012","journal-title":"Thorax"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0147","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1164\/rccm.201304-0800OC","article-title":"Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia","volume":"188","author":"Irving","year":"2013","journal-title":"Am J Respir Crit Care Med"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0148","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1136\/thoraxjnl-2014-206578","article-title":"Lung structure-function correlation in patients with primary ciliary dyskinesia","volume":"70","author":"Boon","year":"2015","journal-title":"Thorax"},{"issue":"9","key":"10.1016\/j.lpm.2023.104171_bib0149","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1136\/thoraxjnl-2015-207206","article-title":"Further evidence for an association between LCI and FEV1 in patients with PCD","volume":"70","author":"Nyilas","year":"2015","journal-title":"Thorax"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0150","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"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0151","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1183\/09031936.00032610","article-title":"Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia","volume":"37","author":"Marthin","year":"2011","journal-title":"Eur Respir J"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0152","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1513\/AnnalsATS.202106-728OC","article-title":"Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure","volume":"19","author":"Raidt","year":"2022","journal-title":"Ann Am Thorac Soc"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0153","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1513\/AnnalsATS.201904-347OT","article-title":"Nasal nitric oxide measurement in primary ciliary dyskinesia. A technical paper on standardized testing protocols","volume":"17","author":"Shapiro","year":"2020","journal-title":"Ann Am Thorac Soc"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0154","doi-asserted-by":"crossref","first-page":"2242","DOI":"10.1002\/ppul.25432","article-title":"Breath-holding and tidal breathing nasal NO to screen children for primary ciliary dyskinesia","volume":"56","author":"Beydon","year":"2021","journal-title":"Pediatr Pulmonol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0155","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/ppul.25702","article-title":"Feasibility of nasal NO screening in healthy newborns","volume":"57","author":"Buechel","year":"2022","journal-title":"Pediatr Pulmonol"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0156","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02031-2022","article-title":"Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: european Respiratory Society technical standard","volume":"61","author":"Beydon","year":"2023","journal-title":"Eur Respir J"},{"issue":"10","key":"10.1016\/j.lpm.2023.104171_bib0157","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1513\/AnnalsATS.202110-1175OC","article-title":"High nasal nitric oxide, cilia analyses, and genotypes in a retrospective cohort of children with primary ciliary dyskinesia","volume":"19","author":"Legendre","year":"2022","journal-title":"Ann Am Thorac Soc"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0158","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1002\/ppul.25636","article-title":"Use caution interpreting nasal nitric oxide: overlap in primary ciliary dyskinesia and primary immunodeficiency","volume":"56","author":"Barber","year":"2021","journal-title":"Pediatr Pulmonol"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0159","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1164\/rccm.202003-0835LE","article-title":"Limitations of nasal nitric oxide testing in primary ciliary dyskinesia","volume":"202","author":"Shapiro","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.lpm.2023.104171_bib0160","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/s13104-015-0999-x","article-title":"A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis","volume":"8","author":"Amirav","year":"2015","journal-title":"BMC Res Notes"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0161","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00477-2020","article-title":"Comparison of ciliary beat frequencies at different temperatures in young adults","volume":"6","author":"Nikolaizik","year":"2020","journal-title":"ERJ Open Res"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0162","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics11071301","article-title":"High-speed video microscopy for primary ciliary dyskinesia diagnosis: a study of ciliary motility variations with time and temperature","volume":"11","author":"Reula","year":"2021","journal-title":"Diagnostics"},{"key":"10.1016\/j.lpm.2023.104171_bib0163","doi-asserted-by":"crossref","first-page":"122","DOI":"10.5114\/ceji.2013.34369","article-title":"Chronic inflammation in the respiratory tract and ciliary dyskinesia","volume":"1","author":"Grzela","year":"2013","journal-title":"CEJOI"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0164","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.rmr.2022.11.054","article-title":"Ciliary dyskinesia might be secondary to chronic inflammation in cystic fibrosis","volume":"40","author":"Bonhiver","year":"2023","journal-title":"Rev Mal Respir"},{"key":"10.1016\/j.lpm.2023.104171_bib0165","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"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0166","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"},{"issue":"S1","key":"10.1016\/j.lpm.2023.104171_bib0167","doi-asserted-by":"crossref","DOI":"10.1186\/2046-2530-1-S1-P23","article-title":"Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)","volume":"1","author":"Hjeij","year":"2012","journal-title":"Cilia"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0168","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"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0169","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1203\/01.pdr.0000200809.21364.e2","article-title":"Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia","volume":"59","author":"Olbrich","year":"2006","journal-title":"Pediatr Res"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0170","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1165\/rcmb.2019-0316ED","article-title":"HY-DIN' in the Cilia: discovery of central pair-related mutations in primary ciliary dyskinesia","volume":"62","author":"Dutcher","year":"2020","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0171","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00725-2019","article-title":"International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)","volume":"55","author":"Shoemark","year":"2020","journal-title":"Eur Respir J"},{"key":"10.1016\/j.lpm.2023.104171_bib0172","first-page":"PA1854","article-title":"Use of electron tomography to confirm the diagnosis of primary ciliary dyskinesia","volume":"50","author":"Shoemark","year":"2017","journal-title":"Eur Respir J"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0173","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01809-2017","article-title":"Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11","volume":"51","author":"Shoemark","year":"2018","journal-title":"Eur Respir J"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0174","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"},{"issue":"7","key":"10.1016\/j.lpm.2023.104171_bib0175","article-title":"Progress in diagnosing primary ciliary dyskinesia: the North American perspective","volume":"11","author":"O'Connor","year":"2021","journal-title":"Diagnostics"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0176","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0177","doi-asserted-by":"crossref","DOI":"10.1186\/s13046-020-01554-6","article-title":"Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers","volume":"39","author":"Federici","year":"2020","journal-title":"J Exp Clin Cancer Res"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0178","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/s41525-021-00182-z","article-title":"Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies","volume":"6","author":"Iancu","year":"2021","journal-title":"npj Genom. Med."},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0179","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s40142-021-00199-x","article-title":"The role of rna-sequencing as a new genetic diagnosis tool","volume":"9","author":"Curry","year":"2021","journal-title":"Curr Genet Med Rep"},{"key":"10.1016\/j.lpm.2023.104171_bib0180","series-title":"Lung innate immunity and inflammation: methods and protocols","first-page":"91","article-title":"Air\u2013liquid interface culture of human and mouse airway epithelial cells","author":"Jiang","year":"2018"},{"issue":"6","key":"10.1016\/j.lpm.2023.104171_bib0181","doi-asserted-by":"crossref","DOI":"10.1002\/anbr.202000111","article-title":"Air-liquid interface cultures of the healthy and diseased human respiratory tract: promises, challenges and future directions","volume":"1","author":"Baldassi","year":"2021","journal-title":"Adv Nanobiomed Res"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0182","doi-asserted-by":"crossref","first-page":"e89675","DOI":"10.1371\/journal.pone.0089675","article-title":"Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid","volume":"9","author":"Hirst","year":"2014","journal-title":"PLoS One"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0183","doi-asserted-by":"crossref","DOI":"10.3390\/jcm9113753","article-title":"A revised protocol for culture of airway epithelial cells as a diagnostic tool for primary ciliary dyskinesia","volume":"9","author":"Coles","year":"2020","journal-title":"J Clin Med"},{"issue":"18","key":"10.1016\/j.lpm.2023.104171_bib0184","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22189834","article-title":"Current and future treatments in primary ciliary dyskinesia","volume":"22","author":"Paff","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0185","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1136\/thoraxjnl-2013-203773","article-title":"The yin and the yang of immunosuppression with inhaled corticosteroids","volume":"68","author":"Sabroe","year":"2013","journal-title":"Thorax"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0186","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02221-2017","article-title":"Are inhaled corticosteroids prescribed rationally in primary ciliary dyskinesia?","volume":"51","author":"Dehlink","year":"2018","journal-title":"Eur Respir J"},{"issue":"5","key":"10.1016\/j.lpm.2023.104171_bib0187","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S2213-2600(20)30058-8","article-title":"Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial","volume":"8","author":"Kobbernagel","year":"2020","journal-title":"Lancet Respir Med"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0188","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00629-2017","article-title":"European Respiratory Society guidelines for the management of adult bronchiectasis","volume":"50","author":"Polverino","year":"2017","journal-title":"Eur Respir J"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0189","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02990-2020","article-title":"European Respiratory Society guidelines for the management of children and adolescents with bronchiectasis","volume":"58","author":"Chang","year":"2021","journal-title":"Eur Respir J"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0190","doi-asserted-by":"crossref","DOI":"10.1183\/20734735.0105-2021","article-title":"Management of children and adolescents with bronchiectasis: summary of the ERS clinical practice guideline","volume":"17","author":"Chang","year":"2021","journal-title":"Breathe"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0191","doi-asserted-by":"crossref","first-page":"4029","DOI":"10.1128\/JCM.02164-13","article-title":"Complexity, temporal stability, and clinical correlates of airway bacterial community composition in primary ciliary dyskinesia","volume":"51","author":"Rogers","year":"2013","journal-title":"J Clin Microbiol"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0192","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/j.cmi.2015.08.020","article-title":"A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia","volume":"21","author":"Alanin","year":"2015","journal-title":"Clin Microbiol Infect"},{"issue":"8","key":"10.1016\/j.lpm.2023.104171_bib0193","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1136\/thoraxjnl-2011-201506","article-title":"Randomised controlled trial of amoxycillin clavulanate in children with chronic wet cough","volume":"67","author":"Marchant","year":"2012","journal-title":"Thorax"},{"issue":"129","key":"10.1016\/j.lpm.2023.104171_bib0194","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1183\/09059180.00006512","article-title":"Treatment of pulmonary exacerbations in cystic fibrosis","volume":"22","author":"Bhatt","year":"2013","journal-title":"Eur Respir Rev"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0195","doi-asserted-by":"crossref","first-page":"135","DOI":"10.4104\/pcrj.2011.00007","article-title":"Primary care summary of the British Thoracic Society Guideline on the management of non-cystic fibrosis bronchiectasis","volume":"20","author":"Hill","year":"2011","journal-title":"Prim Care Respir J"},{"key":"10.1016\/j.lpm.2023.104171_bib0196","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.rmed.2017.08.028","article-title":"Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia","volume":"131","author":"Cohen-Cymberknoh","year":"2017","journal-title":"Respir Med"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0197","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01953-2017","article-title":"The independent contribution of Pseudomonas aeruginosa infection to long-term clinical outcomes in bronchiectasis","volume":"51","author":"Ara\u00fajo","year":"2018","journal-title":"Eur Respir J"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0198","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1002\/ppul.22984","article-title":"Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia","volume":"49","author":"Maglione","year":"2014","journal-title":"Pediatr Pulmonol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0199","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1186\/s12931-019-1183-y","article-title":"Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study","volume":"20","author":"Kouis","year":"2019","journal-title":"Respir Res"},{"issue":"11","key":"10.1016\/j.lpm.2023.104171_bib0200","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/j.healun.2016.08.025","article-title":"Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome","volume":"35","author":"Hayes","year":"2016","journal-title":"J Heart Lung Transplant"},{"issue":"Suppl S29","key":"10.1016\/j.lpm.2023.104171_bib0201","first-page":"1","article-title":"European position paper on rhinosinusitis and nasal polyps 2020","volume":"58","author":"Fokkens","year":"2020","journal-title":"Rhinology"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0202","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1002\/alr.21227","article-title":"Treatment and outcomes of chronic rhinosinusitis in children with primary ciliary dyskinesia: where is the evidence? A qualitative systematic review","volume":"3","author":"Mener","year":"2013","journal-title":"Int Forum Allergy Rhinol"},{"issue":"12","key":"10.1016\/j.lpm.2023.104171_bib0203","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1016\/j.ijporl.2009.08.024","article-title":"Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review","volume":"73","author":"Campbell","year":"2009","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"1","key":"10.1016\/j.lpm.2023.104171_bib0204","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1097\/ACI.0b013e32834eccc6","article-title":"Managing upper respiratory tract complications of primary ciliary dyskinesia in children","volume":"12","author":"Campbell","year":"2012","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"10.1016\/j.lpm.2023.104171_bib0205","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ijporl.2016.08.011","article-title":"A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia","volume":"89","author":"Andersen","year":"2016","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.lpm.2023.104171_bib0206","series-title":"The nose and sinuses in respiratory disorders","first-page":"148","article-title":"Chronic rhinosinusitis in non-cystic fibrosis bronchiectasis and primary ciliary dyskinesia","author":"Raidt","year":"2017"},{"issue":"2","key":"10.1016\/j.lpm.2023.104171_bib0207","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.fertnstert.2011.11.003","article-title":"Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails","volume":"97","author":"McLachlan","year":"2012","journal-title":"Fertil Steril"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0208","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/s10815-020-01721-w","article-title":"Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection","volume":"37","author":"Wu","year":"2020","journal-title":"J Assist Reprod Genet"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0209","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000422","article-title":"Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy","volume":"5","author":"Chhin","year":"2009","journal-title":"PLoS Genet"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0210","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/gt.2013.79","article-title":"Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector","volume":"21","author":"Ostrowski","year":"2014","journal-title":"Gene Ther"},{"issue":"4","key":"10.1016\/j.lpm.2023.104171_bib0211","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1136\/jmedgenet-2015-103539","article-title":"Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia","volume":"53","author":"Lai","year":"2016","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.lpm.2023.104171_bib0212","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00139-2022","article-title":"The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN","volume":"8","author":"Raidt","year":"2022","journal-title":"ERJ Open Res"}],"container-title":["La Presse M\u00e9dicale"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498223000088?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498223000088?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T18:48:33Z","timestamp":1777574913000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0755498223000088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":212,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S0755498223000088"],"URL":"https:\/\/doi.org\/10.1016\/j.lpm.2023.104171","relation":{},"ISSN":["0755-4982"],"issn-type":[{"value":"0755-4982","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Primary ciliary dyskinesia","name":"articletitle","label":"Article Title"},{"value":"La Presse M\u00e9dicale","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.lpm.2023.104171","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104171"}}