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Results: 1 to 20 of 114

1.

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.

Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW.

Am J Respir Crit Care Med. 2013 Oct 15;188(8):913-22. doi: 10.1164/rccm.201301-0059CI. Review.

PMID:
23796196
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Diagnosis and management of primary ciliary dyskinesia.

Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; National PCD Service, UK.

Arch Dis Child. 2014 Sep;99(9):850-6. doi: 10.1136/archdischild-2013-304831. Epub 2014 Apr 25. Review.

PMID:
24771309
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA.

Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.

PMID:
24568568
[PubMed - indexed for MEDLINE]
4.

The emerging genetics of primary ciliary dyskinesia.

Zariwala MA, Omran H, Ferkol TW.

Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD. Review.

PMID:
21926394
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium.

Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.

PMID:
22184204
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[Primary ciliary dyskinesia in highlights of consensus statement. Presentation of pediatric cases].

Cichocka-Jarosz E, Jedynak-Wasowicz U, Głodzik I, Lis G, Pietrzyk JJ.

Przegl Lek. 2010;67(2):135-40. Polish.

PMID:
20557016
[PubMed - indexed for MEDLINE]
7.

[Nasal ciliary investigations for the diagnosis of primary ciliary dyskinesia in children].

Escudier E, Roger G, Coste A.

Arch Pediatr. 2004 Apr;11(4):390-3. Review. French.

PMID:
15051102
[PubMed - indexed for MEDLINE]
8.

The challenges of diagnosing primary ciliary dyskinesia.

Leigh MW, O'Callaghan C, Knowles MR.

Proc Am Thorac Soc. 2011 Sep;8(5):434-7. doi: 10.1513/pats.201103-028SD. Review.

PMID:
21926395
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic causes of bronchiectasis: primary ciliary dyskinesia.

Morillas HN, Zariwala M, Knowles MR.

Respiration. 2007;74(3):252-63. Review.

PMID:
17534128
[PubMed - indexed for MEDLINE]
10.

Primary ciliary dyskinesia, an orphan disease.

Boon M, Jorissen M, Proesmans M, De Boeck K.

Eur J Pediatr. 2013 Feb;172(2):151-62. doi: 10.1007/s00431-012-1785-6. Epub 2012 Jul 10. Review.

PMID:
22777640
[PubMed - indexed for MEDLINE]
11.

Cilia motility and structure in primary and secondary ciliary dyskinesia.

Armengot M, Milara J, Mata M, Carda C, Cortijo J.

Am J Rhinol Allergy. 2010 May-Jun;24(3):175-80. doi: 10.2500/ajra.2010.24.3448.

PMID:
20537282
[PubMed - indexed for MEDLINE]
12.

Primary Ciliary Dyskinesia.

Zariwala MA, Knowles MR, Leigh MW.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Jan 24 [updated 2013 Feb 28].

13.

[Diagnostics of primary ciliary dyskinesia].

Schrott-Fischer A, Rieger G, Morass B, Bitsche M, Horak E, Riechelmann H, Glückert R.

Laryngorhinootologie. 2008 Nov;87(11):809-20; quiz 821-5. doi: 10.1055/s-2008-1077724. Epub 2008 Oct 29. German.

PMID:
18975248
[PubMed - indexed for MEDLINE]
14.

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA.

Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Review.

PMID:
19606528
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Picking up speed: advances in the genetics of primary ciliary dyskinesia.

Horani A, Brody SL, Ferkol TW.

Pediatr Res. 2014 Jan;75(1-2):158-64. doi: 10.1038/pr.2013.200. Epub 2013 Nov 5. Review.

PMID:
24192704
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Primary ciliary dyskinesia: diagnostic and phenotypic features.

Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR.

Am J Respir Crit Care Med. 2004 Feb 15;169(4):459-67. Epub 2003 Dec 4.

PMID:
14656747
[PubMed - indexed for MEDLINE]
17.

[Primary ciliary dyskinesia: a retrospective review of clinical and paraclinical data].

Beucher J, Chambellan A, Segalen J, Deneuville E.

Rev Mal Respir. 2011 Sep;28(7):856-63. doi: 10.1016/j.rmr.2011.02.014. Epub 2011 Sep 3. Review. French.

PMID:
21943530
[PubMed - indexed for MEDLINE]
18.

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA.

Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

PMID:
24055112
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Cilia, primary ciliary dyskinesia and molecular genetics.

Chodhari R, Mitchison HM, Meeks M.

Paediatr Respir Rev. 2004 Mar;5(1):69-76. Review.

PMID:
15222957
[PubMed - indexed for MEDLINE]
20.

Primary ciliary dyskinesia: improving the diagnostic approach.

Leigh MW, Zariwala MA, Knowles MR.

Curr Opin Pediatr. 2009 Jun;21(3):320-5. doi: 10.1097/MOP.0b013e328329cddb. Review.

PMID:
19300264
[PubMed - indexed for MEDLINE]
Free PMC Article

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