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Items: 1 to 50 of 1133

1.

[A New-born Case of Total Conus Defect and Single Coronary Artery with Situs Inversus Totalis Suspected Kartagener Syndrome].

Uno Y, Shinohara G, Nakao M, Morita K.

Kyobu Geka. 2019 Mar;72(3):199-203. Japanese.

PMID:
30923296
2.

The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results

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 13;149. pii: w20004. doi: 10.4414/smw.2019.20004. eCollection 2019 Jan 1.

3.

Automated computed tomographic scoring of lung disease in adults with primary ciliary dyskinesia.

Hoang-Thi TN, Revel MP, Burgel PR, Bassinet L, Honoré I, Hua-Huy T, Martin C, Maitre B, Chassagnon G.

BMC Pulm Med. 2018 Dec 18;18(1):194. doi: 10.1186/s12890-018-0758-6.

4.

A comparative study between adenoids and nasal mucosa for ciliated epithelium in children with recurrent or chronic rhinosinusitis.

Kim CM, Harley EH.

Int J Pediatr Otorhinolaryngol. 2018 Dec;115:94-96. doi: 10.1016/j.ijporl.2018.09.018. Epub 2018 Sep 21.

PMID:
30368402
5.

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.

Andjelkovic M, Minic P, Vreca M, Stojiljkovic M, Skakic A, Sovtic A, Rodic M, Skodric-Trifunovic V, Maric N, Visekruna J, Spasovski V, Pavlovic S.

PLoS One. 2018 Oct 9;13(10):e0205422. doi: 10.1371/journal.pone.0205422. eCollection 2018.

6.

Never too old for an inherited condition.

Robinson P.

Intern Med J. 2018 Oct;48(10):1252-1254. doi: 10.1111/imj.14060.

PMID:
30288904
7.

[Primary ciliary disquinesia related bronchiectasis. Relevance of Pigmentary retinitis among clinical data.]

Cambursano VH.

Rev Fac Cien Med Univ Nac Cordoba. 2018 Jun 18;75(2):143-144. doi: 10.31053/1853.0605.v75.n2.17705. Spanish.

PMID:
30273539
8.

Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia.

Ghandourah H, Dell SD.

BMJ Case Rep. 2018 Sep 12;2018. pii: bcr-2018-224964. doi: 10.1136/bcr-2018-224964.

PMID:
30209139
9.

Lung function in primary ciliary dyskinesia: breaking the myth that this is a mild disease.

Saglani S.

Eur Respir J. 2018 Aug 23;52(2). pii: 1801365. doi: 10.1183/13993003.01365-2018. Print 2018 Aug. No abstract available.

PMID:
30139762
10.

Kartagener's syndrome.

Queiroz RM, Filho FB.

Pan Afr Med J. 2018 Mar 19;29:160. doi: 10.11604/pamj.2018.29.160.14927. eCollection 2018. No abstract available.

11.

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia.

O'Callaghan C, Rutman A, Williams G, Kulkarni N, Hayes J, Hirst RA.

Respir Res. 2018 Jun 25;19(1):125. doi: 10.1186/s12931-018-0782-3.

12.

Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection.

Marthin JK, Philipsen MC, Rosthoj S, Nielsen KG.

Eur Respir J. 2018 Jun 21;51(6). pii: 1702503. doi: 10.1183/13993003.02503-2017. Print 2018 Jun.

PMID:
29748307
13.

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H.

Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025.

14.

The sense of smell in primary ciliary dyskinesia.

Rimmer J.

Thorax. 2018 Oct;73(10):897. doi: 10.1136/thoraxjnl-2018-211620. Epub 2018 Apr 7. No abstract available.

PMID:
29627801
15.

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient.

Liu L, Luo H.

Biomed Res Int. 2018 Jan 8;2018:1854269. doi: 10.1155/2018/1854269. eCollection 2018.

16.

Seeing cilia: imaging modalities for ciliary motion and clinical connections.

Peabody JE, Shei RJ, Bermingham BM, Phillips SE, Turner B, Rowe SM, Solomon GM.

Am J Physiol Lung Cell Mol Physiol. 2018 Jun 1;314(6):L909-L921. doi: 10.1152/ajplung.00556.2017. Epub 2018 Mar 1. Review.

17.

Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children.

Pifferi M, Bush A, Rizzo M, Tonacci A, Di Cicco M, Piras M, Maggi F, Paiola G, Michelucci A, Cangiotti A, Peroni D, Caramella D, Boner AL.

Thorax. 2018 Oct;73(10):980-982. doi: 10.1136/thoraxjnl-2017-210661. Epub 2018 Feb 28.

18.

Reduced anaerobic and aerobic performance in children with primary ciliary dyskinesia.

Simsek S, Inal-Ince D, Cakmak A, Emiralioglu N, Calik-Kutukcu E, Saglam M, Vardar-Yagli N, Ozcelik HU, Sonbahar-Ulu H, Bozdemir-Ozel C, Kiper N, Arikan H.

Eur J Pediatr. 2018 May;177(5):765-773. doi: 10.1007/s00431-018-3121-2. Epub 2018 Feb 27.

PMID:
29487997
19.

No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia.

Ghedia R, Ahmed J, Navaratnam A, Harcourt J.

Int J Pediatr Otorhinolaryngol. 2018 Feb;105:176-180. doi: 10.1016/j.ijporl.2017.12.015. Epub 2017 Dec 14.

PMID:
29447810
20.

[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].

Wang K, Chen X, Guo CY, Liu FQ, Wang JR, Sun LF.

Zhonghua Er Ke Za Zhi. 2018 Feb 2;56(2):134-137. doi: 10.3760/cma.j.issn.0578-1310.2018.02.012. Review. Chinese.

PMID:
29429202
21.
22.

Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study.

Fuger M, Aupiais C, Thouvenin G, Taytard J, Tamalet A, Escudier E, Boizeau P, Corvol H, Beydon N.

Respir Physiol Neurobiol. 2018 May;251:1-7. doi: 10.1016/j.resp.2018.01.010. Epub 2018 Jan 31.

23.

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

Paff T, Kooi IE, Moutaouakil Y, Riesebos E, Sistermans EA, Daniels HJMA, Weiss JMM, Niessen HHWM, Haarman EG, Pals G, Micha D.

Hum Mutat. 2018 May;39(5):653-665. doi: 10.1002/humu.23403. Epub 2018 Mar 9.

PMID:
29363216
24.

Kartagener's syndrome: a case report.

Tadesse A, Alemu H, Silamsaw M, Gebrewold Y.

J Med Case Rep. 2018 Jan 10;12(1):5. doi: 10.1186/s13256-017-1538-2.

25.

Hearing loss in children with primary ciliary dyskinesia.

Kreicher KL, Schopper HK, Naik AN, Hatch JL, Meyer TA.

Int J Pediatr Otorhinolaryngol. 2018 Jan;104:161-165. doi: 10.1016/j.ijporl.2017.11.005. Epub 2017 Nov 11.

PMID:
29287859
26.

Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.

Takeuchi K, Kitano M, Sakaida H, Usui S, Masuda S, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K.

Otol Neurotol. 2017 Dec;38(10):e451-e456. doi: 10.1097/MAO.0000000000001599.

PMID:
29135867
27.

Primary ciliary dyskinesia: keep it on your radar.

Rosenfeld M, Ostrowski LE, Zariwala MA.

Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. Epub 2017 Nov 13. No abstract available.

28.

Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis.

Wijers CD, Chmiel JF, Gaston BM.

Chron Respir Dis. 2017 Nov;14(4):392-406. doi: 10.1177/1479972317694621. Epub 2017 Mar 6. Review.

29.

[Polypous pansinusitis with the deformation of the external nose in a 8 year-old child presenting with the primary ciliary dyskinesia syndrome].

Asmanov AI, Zlobina NV, Radtsig EY, Polev GA, Sorokina EV.

Vestn Otorinolaringol. 2017;82(5):61-63. doi: 10.17116/otorino201782561-63. Russian.

PMID:
29072668
30.

Paediatric case of ductal origin of right pulmonary artery presenting with exertional dyspnoea and mimicking asthma and primary ciliary dyskinesia.

Sagar M Md, Marshall AS Md, Clary CW Md, Qureshi AM.

BMJ Case Rep. 2017 Oct 10;2017. pii: bcr-2016-218885. doi: 10.1136/bcr-2016-218885.

PMID:
29018009
31.

Renal Amyloidosis Associated With Kartagener Syndrome in a Dog.

Celona B, Crinò C, Bruno C, Di Pietro S, Giudice E.

Top Companion Anim Med. 2017 Jun;32(2):61-65. doi: 10.1053/j.tcam.2017.03.001. Epub 2017 Mar 9.

PMID:
28992906
32.

Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia.

Cohen-Cymberknoh M, Weigert N, Gileles-Hillel A, Breuer O, Simanovsky N, Boon M, De Boeck K, Barbato A, Snijders D, Collura M, Pradal U, Blau H, Mussaffi H, Price M, Bentur L, Gur M, Aviram M, Picard E, Shteinberg M, Livnat G, Rivlin J, Hiller N, Shoseyov D, Amirav I, Kerem E.

Respir Med. 2017 Oct;131:241-246. doi: 10.1016/j.rmed.2017.08.028. Epub 2017 Sep 1.

PMID:
28947038
33.

A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.

Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K.

Auris Nasus Larynx. 2018 Jun;45(3):585-591. doi: 10.1016/j.anl.2017.09.007. Epub 2017 Sep 19.

PMID:
28939216
34.

Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia?

Werner C, Kouis P.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):386-389. doi: 10.1080/01913123.2017.1362089. Epub 2017 Sep 19. Review.

PMID:
28925796
35.

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.

Dixon M, Shoemark A.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):390-398. doi: 10.1080/01913123.2017.1365990. Epub 2017 Sep 18. Review.

PMID:
28922056
36.

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis.

Shoemark A.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):408-414. doi: 10.1080/01913123.2017.1365789. Epub 2017 Sep 18. Review.

PMID:
28922052
37.

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.

Shapiro AJ, Leigh MW.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):373-385. doi: 10.1080/01913123.2017.1362088. Epub 2017 Sep 15. Review.

38.

Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to Haemophilus influenzae biofilm formation.

Walker WT, Jackson CL, Allan RN, Collins SA, Kelso MJ, Rineh A, Yepuri NR, Nicholas B, Lau L, Johnston D, Lackie P, Faust SN, Lucas JSA, Hall-Stoodley L.

Eur Respir J. 2017 Sep 10;50(3). pii: 1700612. doi: 10.1183/13993003.00612-2017. Print 2017 Sep.

39.

Clinical care for primary ciliary dyskinesia: current challenges and future directions.

Rubbo B, Lucas JS.

Eur Respir Rev. 2017 Sep 6;26(145). pii: 170023. doi: 10.1183/16000617.0023-2017. Print 2017 Sep 30. Review.

40.

Editorial.

Kyriacou K, Yiallouros P.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):370-372. doi: 10.1080/01913123.2017.1367361. Epub 2017 Sep 5. No abstract available.

PMID:
28872924
41.

Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review.

Møller ME, Alanin MC, Grønhøj C, Aanæs K, Høiby N, von Buchwald C.

Am J Rhinol Allergy. 2017 Sep 1;31(5):293-298. doi: 10.2500/ajra.2017.31.4461. Review.

42.

Left-Middle-Lobe Pneumonia.

Kong LY, Longtin Y.

N Engl J Med. 2017 Aug 10;377(6):e8. doi: 10.1056/NEJMicm1700661. No abstract available.

43.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM.

Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8.

44.

Clinical care of children with primary ciliary dyskinesia.

Lucas JS, Alanin MC, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P, Walker WT.

Expert Rev Respir Med. 2017 Oct;11(10):779-790. doi: 10.1080/17476348.2017.1360770. Epub 2017 Aug 2. Review.

PMID:
28745925
45.

Movement.

Ferkol T.

Paediatr Respir Rev. 2017 Sep;24:19-20. doi: 10.1016/j.prrv.2017.06.005. Epub 2017 Jun 12. Review.

PMID:
28687245
46.

Primary Ciliary Dyskinesia Diagnosis. Is Color Better Than Black and White?

Knowles MR, Leigh MW.

Am J Respir Crit Care Med. 2017 Jul 1;196(1):9-10. doi: 10.1164/rccm.201702-0426ED. No abstract available.

PMID:
28665204
47.

Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study.

Irving S, Carr S, Hogg C, Loebinger M, Shoemark A, Bush A.

Lung. 2017 Aug;195(4):441-443. doi: 10.1007/s00408-017-0022-5. Epub 2017 Jun 20.

48.

The time is right for an international PCD disease registry: insight and ongoing research activities.

Goutaki M, Halbeisen FS, Kuehni CE.

Eur Respir J. 2017 Jun 8;49(6). pii: 1700357. doi: 10.1183/13993003.00357-2017. Print 2017 Jun. No abstract available.

50.

Diagnosis of primary ciliary dyskinesia: When and how?

Braun JJ, Boehm N, Metz-Favre C, Koscinski I, Teletin M, Debry C.

Eur Ann Otorhinolaryngol Head Neck Dis. 2017 Dec;134(6):377-382. doi: 10.1016/j.anorl.2017.04.001. Epub 2017 May 11.

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