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Items: 1 to 20 of 95

1.

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

Ziętkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Humińska K, Przystałowska H, Pogorzelski A, Witt M.

Respir Res. 2010 Dec 8;11:174. doi: 10.1186/1465-9921-11-174.

2.

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR.

Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. Epub 2006 Jul 20.

3.

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

Zariwala M, Noone PG, Sannuti A, Minnix S, Zhou Z, Leigh MW, Hazucha M, Carson JL, Knowles MR.

Am J Respir Cell Mol Biol. 2001 Nov;25(5):577-83.

PMID:
11713099
4.

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B.

Am J Hum Genet. 1999 Dec;65(6):1508-19.

5.

DNAI1 mutations explain only 2% of primary ciliary dykinesia.

Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL.

Respiration. 2008;76(2):198-204. doi: 10.1159/000128567. Epub 2008 Apr 23.

PMID:
18434704
6.

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
7.

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.

8.

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

Guichard C, Harricane MC, Lafitte JJ, Godard P, Zaegel M, Tack V, Lalau G, Bouvagnet P.

Am J Hum Genet. 2001 Apr;68(4):1030-5. Epub 2001 Feb 23.

9.

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL.

J Med Genet. 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176.

PMID:
19357118
10.

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.

11.

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA.

Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

12.

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium.

Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.

13.

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.

Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20.

14.

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Nakhleh N, Francis R, Giese RA, Tian X, Li Y, Zariwala MA, Yagi H, Khalifa O, Kureshi S, Chatterjee B, Sabol SL, Swisher M, Connelly PS, Daniels MP, Srinivasan A, Kuehl K, Kravitz N, Burns K, Sami I, Omran H, Barmada M, Olivier K, Chawla KK, Leigh M, Jonas R, Knowles M, Leatherbury L, Lo CW.

Circulation. 2012 May 8;125(18):2232-42. doi: 10.1161/CIRCULATIONAHA.111.079780. Epub 2012 Apr 12.

15.

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H.

Am J Hum Genet. 2008 Nov;83(5):547-58. doi: 10.1016/j.ajhg.2008.10.001. Epub 2008 Oct 23.

16.

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype.

Skrzypczak U, Rutkiewicz E, Pogorzelski A, Witt M, Zietkiewicz E.

J Appl Genet. 2007;48(1):85-8.

PMID:
17272866
17.

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE.

Genomics. 2001 Feb 15;72(1):21-33.

PMID:
11247663
18.

Genetic defects in ciliary structure and function.

Zariwala MA, Knowles MR, Omran H.

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

PMID:
17059358
19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
20.

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

Fliegauf M, Olbrich H, Horvath J, Wildhaber JH, Zariwala MA, Kennedy M, Knowles MR, Omran H.

Am J Respir Crit Care Med. 2005 Jun 15;171(12):1343-9. Epub 2005 Mar 4.

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