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Items: 1 to 20 of 123

1.

Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

Omran H, Häffner K, Völkel A, Kuehr J, Ketelsen UP, Ross UH, Konietzko N, Wienker T, Brandis M, Hildebrandt F.

Am J Respir Cell Mol Biol. 2000 Nov;23(5):696-702.

PMID:
11062149
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.

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
4.

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
5.

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.

Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B.

Hum Genet. 2000 Dec;107(6):642-9.

PMID:
11153919
6.

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia.

Neesen J, Drenckhahn JD, Tiede S, Burfeind P, Grzmil M, Konietzko J, Dixkens C, Kreutzberger J, Laccone F, Omran H.

Cytogenet Genome Res. 2002;98(1):38-44.

PMID:
12584439
7.

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE.

Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. Epub 2002 Jul 25.

8.

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.

9.

A locus for primary ciliary dyskinesia maps to chromosome 19q.

Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison HM, Gardiner RM, Chung E.

J Med Genet. 2000 Apr;37(4):241-4.

10.

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.

11.

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.

Horváth J, Fliegauf M, Olbrich H, Kispert A, King SM, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R, Omran H.

Am J Respir Cell Mol Biol. 2005 Jul;33(1):41-7. Epub 2005 Apr 21.

PMID:
15845866
12.

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.

Geremek M, Witt M.

J Appl Genet. 2004;45(3):347-61. Review.

PMID:
15306728
13.

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

Ibañez-Tallon I, Gorokhova S, Heintz N.

Hum Mol Genet. 2002 Mar 15;11(6):715-21.

PMID:
11912187
14.

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.

Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE.

Eur J Hum Genet. 2000 Feb;8(2):109-18.

15.

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S.

Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5.

16.

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.

Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's Gravesande K, Blum A, Hörmann K, Omran H.

Pediatr Res. 2006 Mar;59(3):418-22.

PMID:
16492982
17.

Genetic causes of bronchiectasis: primary ciliary dyskinesia.

Morillas HN, Zariwala M, Knowles MR.

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

PMID:
17534128
18.

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.

Storm van's Gravesande K, Omran H.

Ann Med. 2005;37(6):439-49. Review.

PMID:
16203616
19.

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.

20.

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.

Neesen J, Kirschner R, Ochs M, Schmiedl A, Habermann B, Mueller C, Holstein AF, Nuesslein T, Adham I, Engel W.

Hum Mol Genet. 2001 May 15;10(11):1117-28.

PMID:
11371505

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