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Items: 1 to 20 of 40

1.

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families.

Guo T, Tan ZP, Chen HM, Zheng DY, Liu L, Huang XG, Chen P, Luo H, Yang YF.

Sci Rep. 2017 Aug 11;7(1):7905. doi: 10.1038/s41598-017-08510-z.

2.

Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations.

Xu X, Gong P, Wen J.

J Assist Reprod Genet. 2017 Feb;34(2):275-281. doi: 10.1007/s10815-016-0849-3. Epub 2016 Dec 17.

PMID:
27988889
3.

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP.

Hum Mol Genet. 2016 Jul 15;25(14):3011-3028. Epub 2016 Jun 23.

4.

Genetic factors contributing to human primary ciliary dyskinesia and male infertility.

Ji ZY, Sha YW, Ding L, Li P.

Asian J Androl. 2017 Sep-Oct;19(5):515-520. doi: 10.4103/1008-682X.181227. Review.

5.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.

Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR.

Ann Am Thorac Soc. 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC.

6.

CRISPR/Cas9-Mediated Rapid Generation of Multiple Mouse Lines Identified Ccdc63 as Essential for Spermiogenesis.

Young SA, Miyata H, Satouh Y, Kato H, Nozawa K, Isotani A, Aitken RJ, Baker MA, Ikawa M.

Int J Mol Sci. 2015 Oct 16;16(10):24732-50. doi: 10.3390/ijms161024732.

7.

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.

8.

Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives.

Collins SA, Walker WT, Lucas JS.

J Clin Med. 2014 May 9;3(2):491-503. doi: 10.3390/jcm3020491. Review.

9.

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

Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN, Ennis S, Slattery D, Lynch SA.

Eur J Hum Genet. 2015 Feb;23(2):210-7. doi: 10.1038/ejhg.2014.79. Epub 2014 May 14.

10.

Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector.

Ostrowski LE, Yin W, Patel M, Sechelski J, Rogers T, Burns K, Grubb BR, Olsen JC.

Gene Ther. 2014 Mar;21(3):253-61. doi: 10.1038/gt.2013.79. Epub 2014 Jan 23.

11.
12.

Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.

Damerla RR, Chatterjee B, Li Y, Francis RJ, Fatakia SN, Lo CW.

Mamm Genome. 2014 Apr;25(3-4):120-8. doi: 10.1007/s00335-013-9494-7. Epub 2013 Dec 5.

13.

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.

14.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F.

Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015.

15.

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E.

PLoS One. 2013 Aug 26;8(8):e72299. doi: 10.1371/journal.pone.0072299. eCollection 2013.

16.

Whole-organ isolation approach as a basis for tissue-specific analyses in Schistosoma mansoni.

Hahnel S, Lu Z, Wilson RA, Grevelding CG, Quack T.

PLoS Negl Trop Dis. 2013 Jul 25;7(7):e2336. doi: 10.1371/journal.pntd.0002336. Print 2013. Erratum in: PLoS Negl Trop Dis. 2013;7(10). doi: 10.1371/annotation/7aad0212-557d-4121-a72f-da2c115ce534.

17.

EGF shifts human airway basal cell fate toward a smoking-associated airway epithelial phenotype.

Shaykhiev R, Zuo WL, Chao I, Fukui T, Witover B, Brekman A, Crystal RG.

Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):12102-7. doi: 10.1073/pnas.1303058110. Epub 2013 Jul 1.

18.

LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E.

PLoS One. 2013;8(3):e59436. doi: 10.1371/journal.pone.0059436. Epub 2013 Mar 19.

19.

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA.

J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7.

20.

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.

Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M.

PLoS One. 2012;7(3):e33667. doi: 10.1371/journal.pone.0033667. Epub 2012 Mar 20.

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