Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 10

1.

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, AttiƩ-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG.

Science. 2012 Feb 24;335(6071):966-9. doi: 10.1126/science.1213506. Epub 2012 Jan 26.

PMID:
22282472
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

Lee JE, Gleeson JG.

Curr Opin Neurol. 2011 Apr;24(2):98-105. doi: 10.1097/WCO.0b013e3283444d05. Review.

PMID:
21386674
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Joubert syndrome and related disorders.

Valente EM, Dallapiccola B, Bertini E.

Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Review.

PMID:
23622411
[PubMed - indexed for MEDLINE]
4.

[Joubert syndrome and related disorders].

Paprocka J, Jamroz E.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. Review.

PMID:
23023437
[PubMed - indexed for MEDLINE]
5.

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
6.

Expanding horizons: ciliary proteins reach beyond cilia.

Yuan S, Sun Z.

Annu Rev Genet. 2013;47:353-76. doi: 10.1146/annurev-genet-111212-133243. Epub 2013 Sep 6. Review.

PMID:
24016188
[PubMed - indexed for MEDLINE]
7.

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.

Karp N, Grosse-Wortmann L, Bowdin S.

Eur J Med Genet. 2012 Nov;55(11):605-10. doi: 10.1016/j.ejmg.2012.07.010. Epub 2012 Aug 3. Review.

PMID:
22910529
[PubMed - indexed for MEDLINE]
8.

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Hildebrandt F, Otto E.

Nat Rev Genet. 2005 Dec;6(12):928-40. Review.

PMID:
16341073
[PubMed - indexed for MEDLINE]
9.

[Ciliopathy--cause of several peculiar syndromes].

Stenram U.

Lakartidningen. 2011 Feb 16-22;108(7):332-5. Review. Swedish. No abstract available.

PMID:
21539115
[PubMed - indexed for MEDLINE]
10.

Clinical spectrum and pathogenesis of nephronophthisis.

Benzing T, Schermer B.

Curr Opin Nephrol Hypertens. 2012 May;21(3):272-8. doi: 10.1097/MNH.0b013e3283520f17. Review.

PMID:
22388554
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk