REFERENCES
- Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders). Eur J Hum Genet. 2007;15:511–521.
- Maria BL, Quisling RG, Rosainz LC, . Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14:368–376.
- Castori M, Valente EM, Donati MA, NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet. 2005;42:e9.
- Utsch B, Sayer JA, Attanasio M, . Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol. 2006;21:32–35.
- Sayer JA, Otto EA, O’Toole JF, . The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006;38:674–681.
- Valente EM, Logan CV, Mougou-Zerelli S, . Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42:619–625.
- Eley L, Moochhala SH, Simms R, Hildebrandt F, Sayer JA. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochem Biophys Res Commun. 2008;371:877–882.
- Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008;74:1139–1149.
- Helou J, Otto EA, Attanasio M, . Mutation analysis of NPHP6/ CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J Med Genet. 2007;44:657–663.
- Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005;15:324–331.
- Bolignano D, Coppolino G, Lacquaniti A, . From kidney to cardiovascular diseases: NGAL as a biomarker beyond the confines of nephrology. Eur J Clin Invest. 2010;40:273–276.
- Bolignano D, Donato V, Coppolino G, . Neutrophil gelatinase-associated lipocalin (NGAL) as a marker of kidney damage. Am J Kidney Dis. 2008;52:595–605.