Etiology
Spinou A,
Hererro-Cortina B,
Aliberti S,
Goeminne PC,
Polverino E,
Dimakou K,
Haworth CS,
Loebinger MR,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Sutharsan S,
Škrgat S,
Maiz-Carro L,
Sibila O,
Stolz D,
Kauppi P,
Bossios A,
Hill AT,
Clifton I,
Crichton ML,
Walker P,
Menendez R,
Borekci S,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Welte T,
Blasi F,
Jankovic Makek M,
Shteinberg M,
Boersma W,
Elborn JS,
Chalmers JD,
Ringshausen FC;
EMBARC Registry Collaborators
Eur Respir J
2024 Jun;63(6)
Epub 2024 Jun 6
doi: 10.1183/13993003.01689-2023.
PMID: 38609097Free PMC Article
Goutaki M,
Lam YT,
Alexandru M,
Anagiotos A,
Armengot M,
Boon M,
Burgess A,
Caversaccio N,
Crowley S,
Dheyauldeen SAD,
Emiralioglu N,
Erdem E,
van Gogh C,
Gunaydin O,
Haarman EG,
Harris A,
Hayn I,
Ismail-Koch H,
Karadag B,
Kempeneers C,
Kim S,
Lorent N,
Ozcelik U,
Pioch C,
Poirrier AML,
Reula A,
Roehmel J,
Yiallouros P,
Yumusakhuylu AC,
Papon JF
JAMA Otolaryngol Head Neck Surg
2023 Jul 1;149(7):587-596.
doi: 10.1001/jamaoto.2023.0841.
PMID: 37166807Free PMC Article
Barber AT,
Shapiro AJ,
Davis SD,
Ferkol TW,
Atkinson JJ,
Sagel SD,
Dell SD,
Olivier KN,
Milla CE,
Rosenfeld M,
Li L,
Lin FC,
Sullivan KM,
Capps NA,
Zariwala MA,
Knowles MR,
Leigh MW
Ann Am Thorac Soc
2023 Mar;20(3):397-405.
doi: 10.1513/AnnalsATS.202206-487OC.
PMID: 36342963Free PMC Article
Guan Y,
Yang H,
Yao X,
Xu H,
Liu H,
Tang X,
Hao C,
Zhang X,
Zhao S,
Ge W,
Ni X
Chest
2021 May;159(5):1768-1781.
Epub 2021 Feb 10
doi: 10.1016/j.chest.2021.02.006.
PMID: 33577779Free PMC Article
Pifferi M,
Bush A,
Caramella D,
Metelli MR,
Di Cicco M,
Piras M,
Gherarducci G,
Capristo C,
Maggi F,
Peroni D,
Boner AL
Respir Med
2017 Mar;124:49-56.
Epub 2017 Feb 2
doi: 10.1016/j.rmed.2017.02.001.
PMID: 28284321
Diagnosis
Takeuchi K,
Abo M,
Date H,
Gotoh S,
Kamijo A,
Kaneko T,
Keicho N,
Kodama S,
Koinuma G,
Kondo M,
Masuda S,
Mori E,
Morimoto K,
Nagao M,
Nakano A,
Nakatani K,
Nishida N,
Nishikido T,
Ohara H,
Okinaka Y,
Sakaida H,
Shiraishi K,
Suzaki I,
Tojima I,
Tsunemi Y,
Kainuma K,
Ota N,
Takeno S,
Fujieda S
Auris Nasus Larynx
2024 Jun;51(3):553-568.
Epub 2024 Mar 27
doi: 10.1016/j.anl.2024.02.001.
PMID: 38537559
Shah A,
Laguna TA
Pediatr Ann
2022 Feb;51(2):e82-e85.
Epub 2022 Feb 1
doi: 10.3928/19382359-20220119-01.
PMID: 35156887
Guan Y,
Yang H,
Yao X,
Xu H,
Liu H,
Tang X,
Hao C,
Zhang X,
Zhao S,
Ge W,
Ni X
Chest
2021 May;159(5):1768-1781.
Epub 2021 Feb 10
doi: 10.1016/j.chest.2021.02.006.
PMID: 33577779Free PMC Article
Inaba A,
Furuhata M,
Morimoto K,
Rahman M,
Takahashi O,
Hijikata M,
Knowles MR,
Keicho N
BMC Pulm Med
2019 Jul 25;19(1):135.
doi: 10.1186/s12890-019-0897-4.
PMID: 31345208Free PMC Article
Shapiro AJ,
Zariwala MA,
Ferkol T,
Davis SD,
Sagel SD,
Dell SD,
Rosenfeld M,
Olivier KN,
Milla C,
Daniel SJ,
Kimple AJ,
Manion M,
Knowles MR,
Leigh MW;
Genetic Disorders of Mucociliary Clearance Consortium
Pediatr Pulmonol
2016 Feb;51(2):115-32.
Epub 2015 Sep 29
doi: 10.1002/ppul.23304.
PMID: 26418604Free PMC Article
Therapy
Spinou A,
Hererro-Cortina B,
Aliberti S,
Goeminne PC,
Polverino E,
Dimakou K,
Haworth CS,
Loebinger MR,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Sutharsan S,
Škrgat S,
Maiz-Carro L,
Sibila O,
Stolz D,
Kauppi P,
Bossios A,
Hill AT,
Clifton I,
Crichton ML,
Walker P,
Menendez R,
Borekci S,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Welte T,
Blasi F,
Jankovic Makek M,
Shteinberg M,
Boersma W,
Elborn JS,
Chalmers JD,
Ringshausen FC;
EMBARC Registry Collaborators
Eur Respir J
2024 Jun;63(6)
Epub 2024 Jun 6
doi: 10.1183/13993003.01689-2023.
PMID: 38609097Free PMC Article
Abitbul R,
Amirav I,
Blau H,
Alkrinawi S,
Aviram M,
Shoseyov D,
Bentur L,
Avital A,
Springer C,
Lavie M,
Prais D,
Dabbah H,
Elias N,
Elizur A,
Goldberg S,
Hevroni A,
Kerem E,
Luder A,
Roth Y,
Cohen-Cymberknoh M,
Ben Ami M,
Mandelberg A,
Livnat G,
Picard E,
Rivlin J,
Rotschild M,
Soferman R,
Loges NT,
Olbrich H,
Werner C,
Wolter A,
Herting M,
Wallmeier J,
Raidt J,
Omran H,
Mussaffi H
Respir Med
2016 Oct;119:41-47.
Epub 2016 Aug 23
doi: 10.1016/j.rmed.2016.08.015.
PMID: 27692146
Andersen TN,
Alanin MC,
von Buchwald C,
Nielsen LH
Int J Pediatr Otorhinolaryngol
2016 Oct;89:164-8.
Epub 2016 Aug 18
doi: 10.1016/j.ijporl.2016.08.011.
PMID: 27619050
Sunther M,
Bush A,
Hogg C,
McCann L,
Carr SB
Pediatr Pulmonol
2016 Dec;51(12):1362-1366.
Epub 2016 Jun 8
doi: 10.1002/ppul.23479.
PMID: 27273679
Shapiro AJ,
Zariwala MA,
Ferkol T,
Davis SD,
Sagel SD,
Dell SD,
Rosenfeld M,
Olivier KN,
Milla C,
Daniel SJ,
Kimple AJ,
Manion M,
Knowles MR,
Leigh MW;
Genetic Disorders of Mucociliary Clearance Consortium
Pediatr Pulmonol
2016 Feb;51(2):115-32.
Epub 2015 Sep 29
doi: 10.1002/ppul.23304.
PMID: 26418604Free PMC Article
Prognosis
Sagel SD,
Kupfer O,
Wagner BD,
Davis SD,
Dell SD,
Ferkol TW,
Hoppe JE,
Rosenfeld M,
Sullivan KM,
Tiddens HAWM,
Knowles MR,
Leigh MW
Ann Am Thorac Soc
2023 Jan;20(1):67-74.
doi: 10.1513/AnnalsATS.202204-314OC.
PMID: 35984413Free PMC Article
Best S,
Shoemark A,
Rubbo B,
Patel MP,
Fassad MR,
Dixon M,
Rogers AV,
Hirst RA,
Rutman A,
Ollosson S,
Jackson CL,
Goggin P,
Thomas S,
Pengelly R,
Cullup T,
Pissaridou E,
Hayward J,
Onoufriadis A,
O'Callaghan C,
Loebinger MR,
Wilson R,
Chung EM,
Kenia P,
Doughty VL,
Carvalho JS,
Lucas JS,
Mitchison HM,
Hogg C
Thorax
2019 Feb;74(2):203-205.
Epub 2018 Aug 30
doi: 10.1136/thoraxjnl-2018-212104.
PMID: 30166424
Halbeisen FS,
Goutaki M,
Spycher BD,
Amirav I,
Behan L,
Boon M,
Hogg C,
Casaulta C,
Crowley S,
Haarman EG,
Karadag B,
Koerner-Rettberg C,
Loebinger MR,
Mazurek H,
Morgan L,
Nielsen KG,
Omran H,
Santamaria F,
Schwerk N,
Thouvenin G,
Yiallouros P,
Lucas JS,
Latzin P,
Kuehni CE
Eur Respir J
2018 Aug;52(2)
Epub 2018 Aug 23
doi: 10.1183/13993003.01040-2018.
PMID: 30049738
Boaretto F,
Snijders D,
Salvoro C,
Spalletta A,
Mostacciuolo ML,
Collura M,
Cazzato S,
Girosi D,
Silvestri M,
Rossi GA,
Barbato A,
Vazza G
J Mol Diagn
2016 Nov;18(6):912-922.
Epub 2016 Sep 13
doi: 10.1016/j.jmoldx.2016.07.002.
PMID: 27637300
Andersen TN,
Alanin MC,
von Buchwald C,
Nielsen LH
Int J Pediatr Otorhinolaryngol
2016 Oct;89:164-8.
Epub 2016 Aug 18
doi: 10.1016/j.ijporl.2016.08.011.
PMID: 27619050
Clinical prediction guides
Spinou A,
Hererro-Cortina B,
Aliberti S,
Goeminne PC,
Polverino E,
Dimakou K,
Haworth CS,
Loebinger MR,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Sutharsan S,
Škrgat S,
Maiz-Carro L,
Sibila O,
Stolz D,
Kauppi P,
Bossios A,
Hill AT,
Clifton I,
Crichton ML,
Walker P,
Menendez R,
Borekci S,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Welte T,
Blasi F,
Jankovic Makek M,
Shteinberg M,
Boersma W,
Elborn JS,
Chalmers JD,
Ringshausen FC;
EMBARC Registry Collaborators
Eur Respir J
2024 Jun;63(6)
Epub 2024 Jun 6
doi: 10.1183/13993003.01689-2023.
PMID: 38609097Free PMC Article
Sagel SD,
Kupfer O,
Wagner BD,
Davis SD,
Dell SD,
Ferkol TW,
Hoppe JE,
Rosenfeld M,
Sullivan KM,
Tiddens HAWM,
Knowles MR,
Leigh MW
Ann Am Thorac Soc
2023 Jan;20(1):67-74.
doi: 10.1513/AnnalsATS.202204-314OC.
PMID: 35984413Free PMC Article
Guan Y,
Yang H,
Yao X,
Xu H,
Liu H,
Tang X,
Hao C,
Zhang X,
Zhao S,
Ge W,
Ni X
Chest
2021 May;159(5):1768-1781.
Epub 2021 Feb 10
doi: 10.1016/j.chest.2021.02.006.
PMID: 33577779Free PMC Article
Pifferi M,
Bush A,
Caramella D,
Metelli MR,
Di Cicco M,
Piras M,
Gherarducci G,
Capristo C,
Maggi F,
Peroni D,
Boner AL
Respir Med
2017 Mar;124:49-56.
Epub 2017 Feb 2
doi: 10.1016/j.rmed.2017.02.001.
PMID: 28284321
Jorissen M,
Bertrand B,
Eloy P
Acta Otorhinolaryngol Belg
1997;51(4):353-66.
PMID: 9444381