Author:
Srour Myriam,Schwartzentruber Jeremy,Hamdan Fadi F.,Ospina Luis H.,Patry Lysanne,Labuda Damian,Massicotte Christine,Dobrzeniecka Sylvia,Capo-Chichi José-Mario,Papillon-Cavanagh Simon,Samuels Mark E.,Boycott Kym M.,Shevell Michael I.,Laframboise Rachel,Désilets Valérie,Maranda Bruno,Rouleau Guy A.,Majewski Jacek,Michaud Jacques L.
Subject
Genetics (clinical),Genetics
Reference37 articles.
1. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders;Sattar;Dev. Med. Child Neurol.,2011
2. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies;Bielas;Nat. Genet.,2009
3. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation;Edvardson;Am. J. Hum. Genet.,2010
4. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes;Valente;Nat. Genet.,2010
5. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria;Dixon-Salazar;Am. J. Hum. Genet.,2004
Cited by
112 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