| 1 | JBTS7, RPGRIP1L
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| RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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| Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM.
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| Clin Genet 74(2):164-70. Epub 2008 Jun 28.
2008
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| 2 | JBTS1, JBTS2, JBTS3, NPHP1, JBTS5, JBTS6, JBTS7
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| Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.
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| Spampinato MV, Kraas J, Maria BL, Walton ZJ, Rumboldt Z.
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| Am J Med Genet A 146A(11):1389-94. 2008
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| 3 | CORS3, JBTS7, MKS5, NPHP8, RPGRIP1L
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| Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
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| Devuyst O, Arnould VJ.
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| Nephrol Dial Transplant 23(5):1500-3. Epub 2008 Feb 14. Review. No abstract available.
2008
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| 4 | JBTS7,MKS5,NPHP8,RPGRIP1L
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| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
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| Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.
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| Nat Genet 39(7):882-8. Epub 2007 Jun 10. 2007
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| 5 | JBTS7,MKS5,NPHP8,RPGRIP1L
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| The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
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| Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S.
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| Nat Genet 39(7):875-81. Epub 2007 Jun 10. 2007
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| 6 | JBTS1, JBTS2, JBTS3, JBTS4, JBTS5, JBTS6, JBTS7
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| The face of Joubert syndrome: a study of dysmorphology and anthropometry.
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| Braddock SR, Henley KM, Maria BL.
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| Am J Med Genet A 143(24):3235-42. 2007
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| 7 | JBTS7, NPHP8, RPGRIP1L
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| Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
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| Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F.
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| Kidney Int 72(12):1520-6. Epub 2007 Oct 24.PMID: 17960139 2007
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