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Similar articles for PubMed (Select 17534128)

1.

Genetic causes of bronchiectasis: primary ciliary dyskinesia.

Morillas HN, Zariwala M, Knowles MR.

Respiration. 2007;74(3):252-63. Review.

PMID:
17534128
2.

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.

3.

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.

4.

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.

5.

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA.

Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Review.

6.

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.

7.

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.

8.

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H.

Nat Genet. 2002 Feb;30(2):143-4. Epub 2002 Jan 14.

PMID:
11788826
9.

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
10.

The emerging genetics of primary ciliary dyskinesia.

Zariwala MA, Omran H, Ferkol TW.

Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD. Review.

11.

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
12.

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.

13.

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
14.

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.

15.

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
16.

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.

PMID:
19410201
17.

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
18.

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.

Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR.

Circulation. 2007 Jun 5;115(22):2814-21. Epub 2007 May 21.

19.

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.

20.

Primary ciliary dyskinesia, an orphan disease.

Boon M, Jorissen M, Proesmans M, De Boeck K.

Eur J Pediatr. 2013 Feb;172(2):151-62. doi: 10.1007/s00431-012-1785-6. Epub 2012 Jul 10. Review.

PMID:
22777640
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