Etiology
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
Tinoco EM,
Gigante AR,
Ferreira E,
Sanches I,
Pereira R,
Sá R,
Monteiro R,
Sousa M,
Pascoal I
Genes (Basel)
2023 Feb 21;14(3)
doi: 10.3390/genes14030541.
PMID: 36980814Free PMC Article
Kobbernagel HE,
Buchvald FF,
Haarman EG,
Casaulta C,
Collins SA,
Hogg C,
Kuehni CE,
Lucas JS,
Moser CE,
Quittner AL,
Raidt J,
Rosthøj S,
Sørensen AL,
Thomsen K,
Werner C,
Omran H,
Nielsen KG
Lancet Respir Med
2020 May;8(5):493-505.
doi: 10.1016/S2213-2600(20)30058-8.
PMID: 32380069
Goutaki M,
Eich MO,
Halbeisen FS,
Barben J,
Casaulta C,
Clarenbach C,
Hafen G,
Latzin P,
Regamey N,
Lazor R,
Tschanz S,
Zanolari M,
Maurer E,
Kuehni CE;
Swiss PCD Registry (CH-PCD) Working Group
Swiss Med Wkly
2019 Jan 1;149
Epub 2019 Jan 13
doi: 10.57187/smw.2019.20004.
PMID: 30691261
Davis SD,
Rosenfeld M,
Lee HS,
Ferkol TW,
Sagel SD,
Dell SD,
Milla C,
Pittman JE,
Shapiro AJ,
Sullivan KM,
Nykamp KR,
Krischer JP,
Zariwala MA,
Knowles MR,
Leigh MW
Am J Respir Crit Care Med
2019 Jan 15;199(2):190-198.
doi: 10.1164/rccm.201803-0548OC.
PMID: 30067075Free PMC Article
Diagnosis
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
Tinoco EM,
Gigante AR,
Ferreira E,
Sanches I,
Pereira R,
Sá R,
Monteiro R,
Sousa M,
Pascoal I
Genes (Basel)
2023 Feb 21;14(3)
doi: 10.3390/genes14030541.
PMID: 36980814Free PMC Article
Rezaei M,
Soheili A,
Ziai SA,
Fakharian A,
Toreyhi H,
Pourabdollah M,
Ghorbani J,
Karimi-Galougahi M,
Mahdaviani SA,
Hasanzad M,
Eslaminejad A,
Ghaffaripour HA,
Mahmoudian S,
Rodafshani Z,
Mirenayat MS,
Varahram M,
Marjani M,
Tabarsi P,
Mansouri D,
Jamaati HR,
Velayati AA
Sci Rep
2022 Feb 11;12(1):2375.
doi: 10.1038/s41598-022-06370-w.
PMID: 35149751Free 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
Olm MA,
Caldini EG,
Mauad T
J Bras Pneumol
2015 May-Jun;41(3):251-63.
doi: 10.1590/S1806-37132015000004447.
PMID: 26176524Free PMC Article
Therapy
Gatt D,
Shaw M,
Waters V,
Kritzinger F,
Solomon M,
Dell S,
Ratjen F
Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
doi: 10.1002/ppul.26599.
PMID: 37449771
Kobbernagel HE,
Buchvald FF,
Haarman EG,
Casaulta C,
Collins SA,
Hogg C,
Kuehni CE,
Lucas JS,
Moser CE,
Quittner AL,
Raidt J,
Rosthøj S,
Sørensen AL,
Thomsen K,
Werner C,
Omran H,
Nielsen KG
Lancet Respir Med
2020 May;8(5):493-505.
doi: 10.1016/S2213-2600(20)30058-8.
PMID: 32380069
Goutaki M,
Eich MO,
Halbeisen FS,
Barben J,
Casaulta C,
Clarenbach C,
Hafen G,
Latzin P,
Regamey N,
Lazor R,
Tschanz S,
Zanolari M,
Maurer E,
Kuehni CE;
Swiss PCD Registry (CH-PCD) Working Group
Swiss Med Wkly
2019 Jan 1;149
Epub 2019 Jan 13
doi: 10.57187/smw.2019.20004.
PMID: 30691261
Davis SD,
Rosenfeld M,
Lee HS,
Ferkol TW,
Sagel SD,
Dell SD,
Milla C,
Pittman JE,
Shapiro AJ,
Sullivan KM,
Nykamp KR,
Krischer JP,
Zariwala MA,
Knowles MR,
Leigh MW
Am J Respir Crit Care Med
2019 Jan 15;199(2):190-198.
doi: 10.1164/rccm.201803-0548OC.
PMID: 30067075Free 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
Prognosis
Gatt D,
Shaw M,
Waters V,
Kritzinger F,
Solomon M,
Dell S,
Ratjen F
Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
doi: 10.1002/ppul.26599.
PMID: 37449771
Kobbernagel HE,
Buchvald FF,
Haarman EG,
Casaulta C,
Collins SA,
Hogg C,
Kuehni CE,
Lucas JS,
Moser CE,
Quittner AL,
Raidt J,
Rosthøj S,
Sørensen AL,
Thomsen K,
Werner C,
Omran H,
Nielsen KG
Lancet Respir Med
2020 May;8(5):493-505.
doi: 10.1016/S2213-2600(20)30058-8.
PMID: 32380069
Davis SD,
Rosenfeld M,
Lee HS,
Ferkol TW,
Sagel SD,
Dell SD,
Milla C,
Pittman JE,
Shapiro AJ,
Sullivan KM,
Nykamp KR,
Krischer JP,
Zariwala MA,
Knowles MR,
Leigh MW
Am J Respir Crit Care Med
2019 Jan 15;199(2):190-198.
doi: 10.1164/rccm.201803-0548OC.
PMID: 30067075Free PMC Article
Dell SD,
Leigh MW,
Lucas JS,
Ferkol TW,
Knowles MR,
Alpern A,
Behan L,
Morris AM,
Hogg C,
DunnGalvin A,
Quittner AL
Ann Am Thorac Soc
2016 Oct;13(10):1726-1735.
doi: 10.1513/AnnalsATS.201603-198OC.
PMID: 27464304Free PMC Article
Mirra V,
Caffarelli C,
Maglione M,
Valentino R,
Perruolo G,
Mazzarella C,
Di Micco LL,
Montella S,
Santamaria F
Ital J Pediatr
2015 Feb 22;41:14.
doi: 10.1186/s13052-015-0119-5.
PMID: 25887861Free PMC Article
Clinical prediction guides
Gatt D,
Shaw M,
Waters V,
Kritzinger F,
Solomon M,
Dell S,
Ratjen F
Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
doi: 10.1002/ppul.26599.
PMID: 37449771
Tinoco EM,
Gigante AR,
Ferreira E,
Sanches I,
Pereira R,
Sá R,
Monteiro R,
Sousa M,
Pascoal I
Genes (Basel)
2023 Feb 21;14(3)
doi: 10.3390/genes14030541.
PMID: 36980814Free PMC Article
Kobbernagel HE,
Buchvald FF,
Haarman EG,
Casaulta C,
Collins SA,
Hogg C,
Kuehni CE,
Lucas JS,
Moser CE,
Quittner AL,
Raidt J,
Rosthøj S,
Sørensen AL,
Thomsen K,
Werner C,
Omran H,
Nielsen KG
Lancet Respir Med
2020 May;8(5):493-505.
doi: 10.1016/S2213-2600(20)30058-8.
PMID: 32380069
Ijaz F,
Ikegami K
Microscopy (Oxf)
2019 Apr 1;68(2):99-110.
doi: 10.1093/jmicro/dfy147.
PMID: 30715429
Davis SD,
Rosenfeld M,
Lee HS,
Ferkol TW,
Sagel SD,
Dell SD,
Milla C,
Pittman JE,
Shapiro AJ,
Sullivan KM,
Nykamp KR,
Krischer JP,
Zariwala MA,
Knowles MR,
Leigh MW
Am J Respir Crit Care Med
2019 Jan 15;199(2):190-198.
doi: 10.1164/rccm.201803-0548OC.
PMID: 30067075Free PMC Article