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Results: 1 to 20 of 30

1.

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.

Drivas TG, Holzbaur EL, Bennett J.

J Clin Invest. 2013 Oct 1;123(10):4525-39. doi: 10.1172/JCI69448. Epub 2013 Sep 24.

PMID:
24051377
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Romani M, Micalizzi A, Valente EM.

Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Review.

PMID:
23870701
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.

Rachel RA, Li T, Swaroop A.

Cilia. 2012 Dec 3;1(1):22. doi: 10.1186/2046-2530-1-22.

PMID:
23351659
[PubMed]
Free PMC Article
4.

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.

Collin RW, den Hollander AI, van der Velde-Visser SD, Bennicelli J, Bennett J, Cremers FP.

Mol Ther Nucleic Acids. 2012 Mar 27;1:e14. doi: 10.1038/mtna.2012.3.

PMID:
23343883
[PubMed]
Free PMC Article
5.

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.

Cheng YZ, Eley L, Hynes AM, Overman LM, Simms RJ, Barker A, Dawe HR, Lindsay S, Sayer JA.

PLoS One. 2012;7(9):e44975. doi: 10.1371/journal.pone.0044975. Epub 2012 Sep 24.

PMID:
23028714
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F.

Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.

PMID:
22863007
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Senior-L√łken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Ronquillo CC, Bernstein PS, Baehr W.

Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20. Review.

PMID:
22819833
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A.

J Clin Invest. 2012 Apr 2;122(4):1233-45. doi: 10.1172/JCI60981. Epub 2012 Mar 26. Erratum in: J Clin Invest. 2012 Aug 1;122(8):3025. Zhang, Jun [added].

PMID:
22446187
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Exome capture sequencing identifies a novel mutation in BBS4.

Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R.

Mol Vis. 2011;17:3529-40. Epub 2011 Dec 30.

PMID:
22219648
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F.

Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24.

PMID:
21866095
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Centrosomes and cilia in human disease.

Bettencourt-Dias M, Hildebrandt F, Pellman D, Woods G, Godinho SA.

Trends Genet. 2011 Aug;27(8):307-15. doi: 10.1016/j.tig.2011.05.004. Epub 2011 Jun 15. Review.

PMID:
21680046
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

Sattar S, Gleeson JG.

Dev Med Child Neurol. 2011 Sep;53(9):793-8. doi: 10.1111/j.1469-8749.2011.04021.x. Epub 2011 Jun 17. Review.

PMID:
21679365
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Ciliopathies.

Hildebrandt F, Benzing T, Katsanis N.

N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. Review. No abstract available.

PMID:
21506742
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

Craige B, Tsao CC, Diener DR, Hou Y, Lechtreck KF, Rosenbaum JL, Witman GB.

J Cell Biol. 2010 Sep 6;190(5):927-40. doi: 10.1083/jcb.201006105.

PMID:
20819941
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E.

Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336.

PMID:
20683928
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Nephronophthisis.

Wolf MT, Hildebrandt F.

Pediatr Nephrol. 2011 Feb;26(2):181-94. doi: 10.1007/s00467-010-1585-z. Epub 2010 Jul 22. Review.

PMID:
20652329
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Joubert Syndrome and related disorders.

Brancati F, Dallapiccola B, Valente EM.

Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Review.

PMID:
20615230
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Murga-Zamalloa CA, Swaroop A, Khanna H.

J Genet. 2009 Dec;88(4):399-407. Review.

PMID:
20090203
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
20.

Clinical and molecular features of Joubert syndrome and related disorders.

Parisi MA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. Review.

PMID:
19876931
[PubMed - indexed for MEDLINE]
Free PMC Article

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