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Items: 5

1.

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

Djakow J, Kramná L, Dušátková L, Uhlík J, Pursiheimo JP, Svobodová T, Pohunek P, Cinek O.

Pediatr Pulmonol. 2016 May;51(5):498-509. doi: 10.1002/ppul.23261. Epub 2015 Jul 30.

PMID:
26228299
2.

Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia.

Svobodová T, Djakow J, Zemková D, Cipra A, Pohunek P, Lebl J.

Int J Endocrinol. 2013;2013:731423. doi: 10.1155/2013/731423. Epub 2013 Dec 12.

3.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM.

Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25.

4.

ciliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software.

Smith CM, Djakow J, Free RC, Djakow P, Lonnen R, Williams G, Pohunek P, Hirst RA, Easton AJ, Andrew PW, O'Callaghan C.

Cilia. 2012 Aug 1;1:14. doi: 10.1186/2046-2530-1-14. eCollection 2012.

5.

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P.

Pediatr Pulmonol. 2012 Sep;47(9):864-75. doi: 10.1002/ppul.22520. Epub 2012 Mar 13.

PMID:
22416021

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