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Results: 1 to 20 of 93

1.
2.

A primary cilia-dependent etiology for midline facial disorders.

Brugmann SA, Allen NC, James AW, Mekonnen Z, Madan E, Helms JA.

Hum Mol Genet. 2010 Apr 15;19(8):1577-92. doi: 10.1093/hmg/ddq030. Epub 2010 Jan 27.

PMID:
20106874
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O.

Am J Hum Genet. 2010 Jan;86(1):93-7. doi: 10.1016/j.ajhg.2009.12.007. Epub 2009 Dec 31. Erratum in: Am J Hum Genet. 2010 Feb;86(2):294. Shanske, Alan L [added].

PMID:
20036350
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Intraflagellar transport: it's not just for cilia anymore.

Baldari CT, Rosenbaum J.

Curr Opin Cell Biol. 2010 Feb;22(1):75-80. doi: 10.1016/j.ceb.2009.10.010. Epub 2009 Dec 3. Review.

PMID:
19962875
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.

Duldulao NA, Lee S, Sun Z.

Development. 2009 Dec;136(23):4033-42. doi: 10.1242/dev.036350.

PMID:
19906870
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

The molecular basis of oral-facial-digital syndrome, type 1.

Macca M, Franco B.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi: 10.1002/ajmg.c.30224. Review.

PMID:
19876934
[PubMed - indexed for MEDLINE]
7.

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez VL, Goodship JA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi: 10.1002/ajmg.c.30226. Review.

PMID:
19876929
[PubMed - indexed for MEDLINE]
8.

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse.

Finetti F, Paccani SR, Riparbelli MG, Giacomello E, Perinetti G, Pazour GJ, Rosenbaum JL, Baldari CT.

Nat Cell Biol. 2009 Nov;11(11):1332-9. doi: 10.1038/ncb1977. Epub 2009 Oct 25.

PMID:
19855387
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

Weatherbee SD, Niswander LA, Anderson KV.

Hum Mol Genet. 2009 Dec 1;18(23):4565-75. doi: 10.1093/hmg/ddp422. Epub 2009 Sep 22.

PMID:
19776033
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Cranioectodermal dysplasia: a probable ciliopathy.

Konstantinidou AE, Fryssira H, Sifakis S, Karadimas C, Kaminopetros P, Agrogiannis G, Velonis S, Nikkels PG, Patsouris E.

Am J Med Genet A. 2009 Oct;149A(10):2206-11. doi: 10.1002/ajmg.a.33013.

PMID:
19760621
[PubMed - indexed for MEDLINE]
11.

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO.

Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.

PMID:
19409524
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Are the oral-facial-digital syndromes ciliopathies?

Toriello HV.

Am J Med Genet A. 2009 May;149A(5):1089-95. doi: 10.1002/ajmg.a.32799. Review.

PMID:
19396822
[PubMed - indexed for MEDLINE]
13.

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

Zaghloul NA, Katsanis N.

J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 Mar 2. Review.

PMID:
19252258
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

FGF signalling during embryo development regulates cilia length in diverse epithelia.

Neugebauer JM, Amack JD, Peterson AG, Bisgrove BW, Yost HJ.

Nature. 2009 Apr 2;458(7238):651-4. doi: 10.1038/nature07753. Epub 2009 Feb 25. Erratum in: Nature. 2010 Jan 21;463(7279):384.

PMID:
19242413
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A mouse model for Meckel syndrome type 3.

Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT.

J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11.

PMID:
19211713
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Primary cilia regulate Shh activity in the control of molar tooth number.

Ohazama A, Haycraft CJ, Seppala M, Blackburn J, Ghafoor S, Cobourne M, Martinelli DC, Fan CM, Peterkova R, Lesot H, Yoder BK, Sharpe PT.

Development. 2009 Mar;136(6):897-903. doi: 10.1242/dev.027979. Epub 2009 Feb 11.

PMID:
19211681
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

Pedersen LB, Rosenbaum JL.

Curr Top Dev Biol. 2008;85:23-61. doi: 10.1016/S0070-2153(08)00802-8. Review.

PMID:
19147001
[PubMed - indexed for MEDLINE]
18.

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L.

Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888.

PMID:
19023858
[PubMed - indexed for MEDLINE]
19.

C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

Hoover AN, Wynkoop A, Zeng H, Jia J, Niswander LA, Liu A.

Development. 2008 Dec;135(24):4049-58. doi: 10.1242/dev.029835. Epub 2008 Nov 12.

PMID:
19004860
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

Ferrante MI, Romio L, Castro S, Collins JE, Goulding DA, Stemple DL, Woolf AS, Wilson SW.

Hum Mol Genet. 2009 Jan 15;18(2):289-303. doi: 10.1093/hmg/ddn356. Epub 2008 Oct 29.

PMID:
18971206
[PubMed - indexed for MEDLINE]
Free PMC Article

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