Author:
Valente Enza Maria,Rosti Rasim O.,Gibbs Elizabeth,Gleeson Joseph G.
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Reference124 articles.
1. Goetz, S. C. & Anderson, K. V. The primary cilium: a signalling centre during vertebrate development. Nat. Rev. Genet. 11, 331–344 (2010).
2. Hildebrandt, F., Benzing, T. & Katsanis, N. Ciliopathies. N. Engl. J. Med. 364, 1533–1543 (2011).
3. Iannicelli, M. et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum. Mutat. 31, E1319–E1331 (2010).
4. Zaki, M. S., Sattar, S., Massoudi, R. A. & Gleeson, J. G. Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers. Am. J. Med. Genet. A 155A, 3042–3049 (2011).
5. Zaghloul, N. A. & Katsanis, N. Functional modules, mutational load and human genetic disease. Trends Genet. 26, 168–176 (2010).
Cited by
204 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献