Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population-Reference-Cited by-同舟云学术

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Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

Published:2014-05-14 Issue:2 Volume:23 Page:210-217
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Casey Jillian P,McGettigan Paul A,Healy Fiona,Hogg Claire,Reynolds Alison,Kennedy Breandan N,Ennis Sean,Slattery Dubhfeasa,Lynch Sally A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201479.pdf

Reference52 articles.

1. Bush A, Cole P, Hariri M et al: Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J 1998; 12: 982–988.

2. Bush A, O'Callaghan C : Primary ciliary dyskinesia. Arch Dis Child 2002; 87: 363–365.

3. Jeganathan D, Chodhari R, Meeks M et al: Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. J Med Genet 2004; 41: 233–240.

4. Palmblad J, Mossberg B, Afzelius BA : Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome. Annu Rev Med 1984; 35: 481–492.

5. Hornef N, Olbrich H, Horvath J et al: DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006; 174: 120–126.

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