Citations for
1JBTS2, TMEM216
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O.
Am J Hum Genet 86(1):93-7. Epub 2009 Dec 31.PMID: 20036350 2010
2JBTS2, MKS2, TMEM216, TMEM67
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG.
Nat Genet 42(7):619-25. Epub 2010 May 30.PMID: 20512146 2010
3JBTS1, JBTS2, JBTS3, NPHP1, JBTS5, JBTS6, JBTS7
Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.
Spampinato MV, Kraas J, Maria BL, Walton ZJ, Rumboldt Z.
Am J Med Genet A 146A(11):1389-94. 2008
4AHI1, CEP290, J BTS3, JBTS1, JBTS2, JBTS5, JBTS6, MKS3, NPHP1, TMEM67
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA, Doherty D, Chance PF, Glass IA.
Eur J Hum Genet 15(5):511-21. Epub 2007 Mar 21. 2007
5JBTS1, JBTS2, JBTS3, JBTS4, JBTS5, JBTS6, JBTS7
The face of Joubert syndrome: a study of dysmorphology and anthropometry.
Braddock SR, Henley KM, Maria BL.
Am J Med Genet A 143(24):3235-42. 2007
6JBTS2
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG.
Ann Neurol 57(4):513-9. Erratum in: Ann Neurol. 2005 Jun;57(6):934. 2005
7JBTS1, JBTS3, AHI1, JBTS2
Genetic basis of Joubert syndrome and related disorders of cerebellar development.
Louie CM, Gleeson JG.
Hum Mol Genet 14 Spec No. 2:R235-42. 2005
8JBTS2
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.
Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG.
Am J Hum Genet 73(3):656-62. Epub 2003 Aug 13. 2003
9JBTS2
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B.
Am J Hum Genet 73(3):663-70. Epub 2003 Aug 07. 2003