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Items: 1 to 20 of 21

1.

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD.

Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5.

2.

Ciliary defects and genetics of primary ciliary dyskinesia.

Escudier E, Duquesnoy P, Papon JF, Amselem S.

Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Review.

3.

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.

4.

Genetic defects in ciliary structure and function.

Zariwala MA, Knowles MR, Omran H.

Annu Rev Physiol. 2007;69:423-50. Review.

PMID:
17059358
5.

Genetic causes of bronchiectasis: primary ciliary dyskinesia.

Morillas HN, Zariwala M, Knowles MR.

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

PMID:
17534128
6.

Lateralization defects and ciliary dyskinesia: lessons from algae.

El Zein L, Omran H, Bouvagnet P.

Trends Genet. 2003 Mar;19(3):162-7. Review.

PMID:
12615011
7.

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.

Storm van's Gravesande K, Omran H.

Ann Med. 2005;37(6):439-49. Review.

PMID:
16203616
8.

[Molecular basis of the primary ciliary dyskinesias].

Moore A, Amselem S, Duriez B, Escudier E.

Rev Mal Respir. 2004 Jun;21(3 Pt 1):521-6. Review. French.

PMID:
15292844
9.

Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics.

Lee L.

Gene. 2011 Mar 1;473(2):57-66. doi: 10.1016/j.gene.2010.11.006. Epub 2010 Nov 25. Review.

PMID:
21111794
10.

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.

Geremek M, Witt M.

J Appl Genet. 2004;45(3):347-61. Review.

PMID:
15306728
11.

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
12.

Ciliary dyskinesia in the nose and paranasal sinuses.

Jorissen M, Bertrand B, Eloy P.

Acta Otorhinolaryngol Belg. 1997;51(4):353-66. Review.

PMID:
9444381
13.

[How useful is the ultrastructural study of the cilia of the respiratory tract in the diagnosis of an immotile cilia syndrome?].

Fischer L, Burri PH, Bauer W, Kraemer R, Sauter K.

Schweiz Med Wochenschr. 1984 May 5;114(18):610-9. Review. German.

PMID:
6374886
14.

Disorders of left-right asymmetry: heterotaxy and situs inversus.

Sutherland MJ, Ware SM.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17. doi: 10.1002/ajmg.c.30228. Review.

PMID:
19876930
15.

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
16.

Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia.

Roomans GM, Ivanovs A, Shebani EB, Johannesson M.

Ups J Med Sci. 2006;111(1):155-68. Review.

PMID:
16553254
17.

[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
18.

Asymmetry of cilia and of mice and men.

Afzelius BA.

Int J Dev Biol. 1999 Jul;43(4):283-6. Review.

19.

Genetics and biology of primary ciliary dyskinesia.

Horani A, Ferkol TW, Dutcher SK, Brody SL.

Paediatr Respir Rev. 2016 Mar;18:18-24. doi: 10.1016/j.prrv.2015.09.001. Epub 2015 Sep 11. Review.

20.

Primary ciliary dyskinesia and associated sensory ciliopathies.

Horani A, Ferkol TW.

Expert Rev Respir Med. 2016;10(5):569-76. doi: 10.1586/17476348.2016.1165612. Epub 2016 Mar 28. Review.

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