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Items: 1 to 20 of 133

1.

[Report of a case with Joubert syndrome and literature review].

Yi YH, Li G, Lu ZL, Zhou JS, Yao ZW, Wang PF, Yao JX.

Zhonghua Er Ke Za Zhi. 2011 Dec;49(12):939-42. Review. Chinese.

PMID:
22336363
2.

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.

3.

[Sign of the « molar tooth »: characteristic MRI appearance of Joubert syndrome].

Jellouli M, Gargah T.

Pan Afr Med J. 2015 Oct 13;22:127. doi: 10.11604/pamj.2015.22.127.7971. eCollection 2015. French. No abstract available.

4.

Polysomnographic findings during wakefulness in Joubert syndrome.

Kumar HV, Loghmanee DA, Sheldon SH.

Am J Respir Crit Care Med. 2012 Feb 1;185(3):e3-4. doi: 10.1164/rccm.201101-0069IM. No abstract available.

PMID:
22298371
5.

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
6.

Joubert syndrome type I: neuroimaging findings in addition to the 'molar tooth' sign.

Kaur S, Kulkarni K.

BMJ Case Rep. 2010 Apr 29;2010. pii: bcr1120092464. doi: 10.1136/bcr.11.2009.2464. No abstract available.

7.

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.

8.

Molar tooth sign is not pathognomonic for Joubert syndrome.

Dirik MA, Yiş U, Dirik E.

Pediatr Neurol. 2013 Dec;49(6):515-6. doi: 10.1016/j.pediatrneurol.2013.08.013. Epub 2013 Oct 10. No abstract available.

PMID:
24120651
9.

Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.

Quarello E, Molho M, Garel C, Couture A, Legac MP, Moutard ML, Bault JP, Fallet-Bianco C, Guibaud L.

Ultrasound Obstet Gynecol. 2014 Feb;43(2):227-32. doi: 10.1002/uog.12567.

10.

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up.

Sartori S, Ludwig K, Fortuna M, Marzocchi C, Calderone M, Toldo I, Salviati L, Laverda AM, Tenconi R.

J Child Neurol. 2010 Nov;25(11):1419-22. doi: 10.1177/0883073810370477. Epub 2010 Sep 7.

PMID:
20823032
11.

The molar tooth sign is pathognomonic for Joubert syndrome!

Poretti A, Boltshauser E, Valente EM.

Pediatr Neurol. 2014 Jun;50(6):e15-6. doi: 10.1016/j.pediatrneurol.2013.11.003. Epub 2013 Nov 14. No abstract available.

PMID:
24731480
12.

The child with jerking eyes and gait.

Cherian EV, Shenoy KV, Shetty G, Ambati NR.

BMJ Case Rep. 2013 Jan 30;2013. pii: bcr2012008236. doi: 10.1136/bcr-2012-008236. No abstract available.

13.

Joubert syndrome labeled as hypotonic cerebral palsy.

Dekair LH, Kamel H, El-Bashir HO.

Neurosciences (Riyadh). 2014 Jul;19(3):233-5.

14.

Head titubation: an unrecognized manifestation of Joubert syndrome and other (midline) cerebellar disorders?

Zanni G.

Dev Med Child Neurol. 2014 Oct;56(10):925-6. doi: 10.1111/dmcn.12508. Epub 2014 Jun 12. No abstract available.

15.

Joubert syndrome: report of 11 cases.

İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG.

Turk J Pediatr. 2012 Nov-Dec;54(6):605-11.

16.

A characteristic image in Joubert syndrome: molar tooth sign.

Sghir M, Kesomtini W.

Pan Afr Med J. 2015 May 28;21:69. doi: 10.11604/pamj.2015.21.69.7068. eCollection 2015. No abstract available.

17.

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. Erratum in: J Hum Genet. 2015 Oct;60(10):651.

PMID:
23034536
18.

[Joubert syndrome and related disorders].

Paprocka J, Jamroz E.

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

PMID:
23023437
19.

[Joubert syndrome: findings at conventional magnetic resonance image and at diffusion tensor imaging].

Burguete Moriones A, Cabada Giadás T, Bacaicoa Saralegui MC, Annicherico Sánchez FJ.

Radiologia. 2012 May-Jun;54(3):279-82. doi: 10.1016/j.rx.2010.09.007. Epub 2011 Jun 8. Review. Spanish.

20.

Joubert syndrome presenting with young-age onset ischemic stroke: a possible etiologic association.

Eun MY, Seok HY, Kwon DY, Park MH, So-Hee E, Kang YS.

J Child Neurol. 2011 Mar;26(3):381-4. doi: 10.1177/0883073810382908. Epub 2010 Nov 29.

PMID:
21115747

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