Author:
Baala Lekbir,Romano Stéphane,Khaddour Rana,Saunier Sophie,Smith Ursula M.,Audollent Sophie,Ozilou Catherine,Faivre Laurence,Laurent Nicole,Foliguet Bernard,Munnich Arnold,Lyonnet Stanislas,Salomon Rémi,Encha-Razavi Férechté,Gubler Marie-Claire,Boddaert Nathalie,de Lonlay Pascale,Johnson Colin A.,Vekemans Michel,Antignac Corinne,Attié-Bitach Tania
Subject
Genetics(clinical),Genetics
Reference54 articles.
1. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation;Joubert;Neurology,1968
2. Analysis and classification of cerebellar malformations;Patel;AJNR Am J Neuroradiol,2002
3. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome;Ferland;Nat Genet,2004
4. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4;Sayer;Nat Genet,2006
5. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders;Valente;Ann Neurol,2006