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Results: 9

Related Articles by Review for PubMed (Select 20512146)

1.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, AttiƩ-Bitach T, Gleeson JG.

Nat Genet. 2010 Jul;42(7):619-25. doi: 10.1038/ng.594. Epub 2010 May 30.

2.

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Logan CV, Abdel-Hamed Z, Johnson CA.

Mol Neurobiol. 2011 Feb;43(1):12-26. doi: 10.1007/s12035-010-8154-0. Epub 2010 Nov 27. Review.

PMID:
21110233
3.

The ciliary transitional zone and nephrocystins.

Shiba D, Yokoyama T.

Differentiation. 2012 Feb;83(2):S91-6. doi: 10.1016/j.diff.2011.11.006. Epub 2011 Dec 12. Review.

PMID:
22169048
4.

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Coppieters F, Lefever S, Leroy BP, De Baere E.

Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Review.

PMID:
20690115
5.

Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

Chen CP.

Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. Review.

PMID:
17389183
6.

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.

7.

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.

8.

Mouse models of ciliopathies: the state of the art.

Norris DP, Grimes DT.

Dis Model Mech. 2012 May;5(3):299-312. doi: 10.1242/dmm.009340. Review.

9.

[Genetic complexity of ciliopathies and novel genes identification].

Bachmann-Gagescu R.

Med Sci (Paris). 2014 Nov;30(11):1011-23. doi: 10.1051/medsci/20143011016. Epub 2014 Nov 10. Review. French.

PMID:
25388584
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