|
1
|
Joubert M, Eisenring JJ and Andermann F:
Familial dysgenesis of the vermis: A syndrome of hyperventilation,
abnormal eye movements and retardation. Neurology. 18:302–303.
1968.
|
|
2
|
Patel S and Barkovich AJ: Analysis and
classification of cerebellar malformations. AJNR Am J Neuroradiol.
23:1074–1087. 2002.PubMed/NCBI
|
|
3
|
Valente EM, Dallapiccola B and Bertini E:
Joubert syndrome and related disorders. Handb Clin Neurol.
113:1879–1888. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Poretti A, Boltshauser E and Valente EM:
The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr
Neurol. 50:e15–e16. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Parisi MA: Clinical and molecular features
of Joubert syndrome and related disorders. Am J Med Genet C Semin
Med Genet 151C. 326–340. 2009.
|
|
6
|
Romani M, Micalizzi A and Valente EM:
Joubert syndrome: Congenital cerebellar ataxia with the molar
tooth. Lancet Neurol. 12:894–905. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Salonen R and Paavola P: Meckel syndrome.
J Med Genet. 35:497–501. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Kyttälä M, Tallila J, Salonen R, Kopra O,
Kohlschmidt N, Paavola-Sakki P, Peltonen L and Kestilä M: MKS1,
encoding a component of the flagellar apparatus basal body
proteome, is mutated in Meckel syndrome. Nat Genet. 38:155–157.
2006. View
Article : Google Scholar : PubMed/NCBI
|
|
9
|
Szymanska K, Hartill VL and Johnson CA:
Unraveling the genetics of Joubert and Meckel-Gruber syndromes. J
Pediatr Genet. 3:65–78. 2014.PubMed/NCBI
|
|
10
|
Otto EA, Ramaswami G, Janssen S, Chaki M,
Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, et al:
Mutation analysis of 18 nephronophthisis associated ciliopathy
disease genes using a DNA pooling and next generation sequencing
strategy. J Med Genet. 48:105–116. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Kroes HY, Monroe GR, van der Zwaag B,
Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ,
Kloosterman WP, Giles RH, et al: Joubert syndrome: Genotyping a
Northern European patient cohort. Eur J Hum Genet. 24:214–220.
2016. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Tsurusaki Y, Kobayashi Y, Hisano M, Ito S,
Doi H, Nakashima M, Saitsu H, Matsumoto N and Miyake N: The
diagnostic utility of exome sequencing in Joubert syndrome and
related disorders. J Hum Genet. 58:113–115. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Noor A, Windpassinger C, Patel M,
Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F,
Paterson AD, et al: CC2D2A, encoding a coiled-coil and C2 domain
protein, causes autosomal-recessive mental retardation with
retinitis pigmentosa. Am J Hum Genet. 82:1011–1018. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Tallila J, Jakkula E, Peltonen L, Salonen
R and Kestilä M: Identification of CC2D2A as a Meckel syndrome gene
adds an important piece to the ciliopathy puzzle. Am J Hum Genet.
82:1361–1367. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Jones D, Fiozzo F, Waters B, McKnight D
and Brown S: First-trimester diagnosis of Meckel-Gruber syndrome by
fetal ultrasound with molecular identification of CC2D2A mutations
by next-generation sequencing. Ultrasound Obstet Gynecol.
44:719–721. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Gorden NT, Arts HH, Parisi MA, Coene KL,
Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen
D, et al: CC2D2A is mutated in Joubert syndrome and interacts with
the ciliopathy-associated basal body protein CEP290. Am J Hum
Genet. 83:559–571. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Williams CL, Li C, Kida K, Inglis PN,
Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, et
al: MKS and NPHP modules cooperate to establish basal
body/transition zone membrane associations and ciliary gate
function during ciliogenesis. J Cell Biol. 192:1023–1041. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Mougou-Zerelli S, Thomas S, Szenker E,
Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel
J, Esculpavit C, et al: CC2D2A mutations in Meckel and Joubert
syndromes indicate a genotype-phenotype correlation. Hum Mutat.
30:1574–1582. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Veleri S, Manjunath SH, Fariss RN,
May-Simera H, Brooks M, Foskett TA, Gao C, Longo TA, Liu P,
Nagashima K, et al: Ciliopathy-associated gene Cc2d2a promotes
assembly of subdistal appendages on the mother centriole during
cilia biogenesis. Nat Commun. 5:42072014.PubMed/NCBI
|
|
20
|
Iannicelli M, Brancati F, Mougou-Zerelli
S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C,
Ardissino GL, Bertini E, et al: Novel TMEM67 mutations and
genotype-phenotype correlates in meckelin-related ciliopathies. Hum
Mutat. 31:E1319–E1331. 2010.PubMed/NCBI
|
|
21
|
Stephen LA, Tawamie H, Davis GM, Tebbe L,
Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S,
et al: TALPID3 controls centrosome and cell polarity and the human
ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife.
4(pii): e080772015.PubMed/NCBI
|
|
22
|
Doherty D: Joubert syndrome: Insights into
brain development, cilium biology, and complex disease. Semin
Pediatr Neurol. 16:143–154. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Maria BL, Hoang KB, Tusa RJ, Mancuso AA,
Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl
DM, et al: ‘Joubert syndrome’ revisited: Key ocular motor signs
with magnetic resonance imaging correlation. J Child Neurol.
12:423–430. 1997. View Article : Google Scholar : PubMed/NCBI
|
