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Results: 1 to 20 of 74

1.

Joubert syndrome: the clinical and radiological findings.

Karakas E, Cullu N, Karakas O, Calik M, Boyaci FN, Yildiz S, Cece H, Akal A.

J Pak Med Assoc. 2014 Jan;64(1):91-4.

PMID:
24605724
[PubMed - indexed for MEDLINE]
2.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ.

Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Erratum in: Am J Hum Genet. 2014 Feb 6;94(2):310.

PMID:
24360808
[PubMed - indexed for MEDLINE]
3.

Mutations in CSPP1 lead to classical Joubert syndrome.

Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG.

Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19.

PMID:
24360807
[PubMed - indexed for MEDLINE]
4.

Structural insights into the small G-protein Arl13B and implications for Joubert syndrome.

Miertzschke M, Koerner C, Spoerner M, Wittinghofer A.

Biochem J. 2014 Jan 15;457(2):301-11. doi: 10.1042/BJ20131097.

PMID:
24168557
[PubMed - indexed for MEDLINE]
5.

Neurophysiologic characterization of motor and sensory projections in Joubert syndrome.

Théoret H, Gleeson J, Pascual-Leone A.

Clin Neurophysiol. 2013 Nov;124(11):2283-4. doi: 10.1016/j.clinph.2013.06.006. Epub 2013 Jul 29. No abstract available.

PMID:
23906682
[PubMed - indexed for MEDLINE]
6.

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Romani M, Micalizzi A, Valente EM.

Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Review.

PMID:
23870701
[PubMed - indexed for MEDLINE]
7.

Joubert syndrome and related disorders.

Valente EM, Dallapiccola B, Bertini E.

Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Review.

PMID:
23622411
[PubMed - indexed for MEDLINE]
8.

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ.

J Biol Chem. 2013 May 10;288(19):13676-94. doi: 10.1074/jbc.M112.420786. Epub 2013 Mar 26.

PMID:
23532844
[PubMed - indexed for MEDLINE]
9.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.

Hum Mol Genet. 2013 Apr 1;22(7):1358-72. doi: 10.1093/hmg/dds546. Epub 2013 Jan 2.

PMID:
23283079
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Kaname T, Yanagi K, Naritomi K.

J Hum Genet. 2013 Feb;58(2):57. doi: 10.1038/jhg.2012.138. Epub 2012 Nov 29. No abstract available.

PMID:
23190750
[PubMed - indexed for MEDLINE]
11.

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N.

J Hum Genet. 2013 Feb;58(2):113-5. doi: 10.1038/jhg.2012.117. Epub 2012 Oct 4.

PMID:
23034536
[PubMed - indexed for MEDLINE]
12.

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.

Cheng YZ, Eley L, Hynes AM, Overman LM, Simms RJ, Barker A, Dawe HR, Lindsay S, Sayer JA.

PLoS One. 2012;7(9):e44975. doi: 10.1371/journal.pone.0044975. Epub 2012 Sep 24.

PMID:
23028714
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.

Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N.

Proc Natl Acad Sci U S A. 2012 Oct 16;109(42):16951-6. doi: 10.1073/pnas.1201408109. Epub 2012 Oct 1.

PMID:
23027964
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[Joubert syndrome and related disorders].

Paprocka J, Jamroz E.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. Review.

PMID:
23023437
[PubMed - indexed for MEDLINE]
15.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

PMID:
23012439
[PubMed - indexed for MEDLINE]
16.

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies.

Karp N, Grosse-Wortmann L, Bowdin S.

Eur J Med Genet. 2012 Nov;55(11):605-10. doi: 10.1016/j.ejmg.2012.07.010. Epub 2012 Aug 3. Review.

PMID:
22910529
[PubMed - indexed for MEDLINE]
17.

Molar tooth sign. Joubert syndrome.

Ghosh PS, Moodley M.

J Paediatr Child Health. 2012 Aug;48(8):709, 714. doi: 10.1111/j.1440-1754.2012.02514_1.x. No abstract available.

PMID:
22882414
[PubMed - indexed for MEDLINE]
18.

Molecular characterization of Joubert syndrome in Saudi Arabia.

Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS.

Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11.

PMID:
22693042
[PubMed - indexed for MEDLINE]
19.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL.

Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15.

PMID:
22425360
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem.

Malaki M, Nemati M, Shoaran M.

Saudi J Kidney Dis Transpl. 2012 Mar;23(2):325-9.

PMID:
22382228
[PubMed - indexed for MEDLINE]
Free Article

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