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Items: 1 to 20 of 104

1.

The ciliopathies: an emerging class of human genetic disorders.

Badano JL, Mitsuma N, Beales PL, Katsanis N.

Annu Rev Genomics Hum Genet. 2006;7:125-48. Review.

PMID:
16722803
2.

Cilia and the ciliopathies: an introduction.

Toriello HV, Parisi MA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):261-2. doi: 10.1002/ajmg.c.30230. No abstract available.

PMID:
19876932
3.

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.

Cardenas-Rodriguez M, Badano JL.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):263-80. doi: 10.1002/ajmg.c.30227. Review.

PMID:
19876935
4.

The retinal ciliopathies.

Adams NA, Awadein A, Toma HS.

Ophthalmic Genet. 2007 Sep;28(3):113-25. Review.

PMID:
17896309
5.

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.

Zhang D, Aravind L.

Cell Cycle. 2012 Oct 15;11(20):3861-75. doi: 10.4161/cc.22068. Epub 2012 Sep 14.

6.

Making sense of cilia in disease: the human ciliopathies.

Baker K, Beales PL.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg.c.30231. Review.

PMID:
19876933
7.

Ciliopathies: an expanding disease spectrum.

Waters AM, Beales PL.

Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6. Review.

8.

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

Lee JE, Gleeson JG.

Curr Opin Neurol. 2011 Apr;24(2):98-105. doi: 10.1097/WCO.0b013e3283444d05. Review.

9.

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Zaghloul NA, Katsanis N.

J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 Mar 2. Review.

10.

Genetic defects in ciliary structure and function.

Zariwala MA, Knowles MR, Omran H.

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

PMID:
17059358
11.

Liver and kidney disease in ciliopathies.

Gunay-Aygun M.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. doi: 10.1002/ajmg.c.30225. Review.

12.

Assembling a primary cilium.

Kim S, Dynlacht BD.

Curr Opin Cell Biol. 2013 Aug;25(4):506-11. doi: 10.1016/j.ceb.2013.04.011. Epub 2013 Jun 7. Review.

13.

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

Barker AR, Thomas R, Dawe HR.

Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9. Review.

14.

Ciliary dysfunction and obesity.

Mok CA, Héon E, Zhen M.

Clin Genet. 2010 Jan;77(1):18-27. doi: 10.1111/j.1399-0004.2009.01305.x. Epub 2009 Nov 20.

PMID:
19968672
15.

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies.

Adams M, Smith UM, Logan CV, Johnson CA.

J Med Genet. 2008 May;45(5):257-67. doi: 10.1136/jmg.2007.054999. Epub 2008 Jan 4. Review.

PMID:
18178628
16.

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
17.

The roles of cilia in developmental disorders and disease.

Bisgrove BW, Yost HJ.

Development. 2006 Nov;133(21):4131-43. Epub 2006 Oct 4. Review.

18.

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
19.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

Sattar S, Gleeson JG.

Dev Med Child Neurol. 2011 Sep;53(9):793-8. doi: 10.1111/j.1469-8749.2011.04021.x. Epub 2011 Jun 17. Review.

20.

Spectrum of clinical diseases caused by disorders of primary cilia.

Ware SM, Aygun MG, Hildebrandt F.

Proc Am Thorac Soc. 2011 Sep;8(5):444-50. doi: 10.1513/pats.201103-025SD. Review.

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