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Items: 1 to 20 of 133

1.

Craniovertebral junction abnormality in a case of Joubert syndrome.

Vogel TW, Dlouhy BJ, Menezes AH.

Childs Nerv Syst. 2012 Jul;28(7):1109-12. doi: 10.1007/s00381-012-1682-3. Epub 2012 Jan 10. No abstract available.

PMID:
22231569
2.

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
3.

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
4.

Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.

Poretti A, Huisman TA, Scheer I, Boltshauser E.

AJNR Am J Neuroradiol. 2011 Sep;32(8):1459-63. doi: 10.3174/ajnr.A2517. Epub 2011 Jun 16.

5.

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.

6.

Anesthetic management of an infant with Joubert syndrome for cardiac surgery.

Bhaskar P, John J, Sivamurthy SK, Lone RA, Tysarowski PA, Riyas MK, Syed SA, Bhat AN, Sallehuddin A.

J Clin Anesth. 2013 Sep;25(6):488-90. doi: 10.1016/j.jclinane.2013.02.013. Epub 2013 Aug 17.

PMID:
23965207
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.

Joubert syndrome.

Karegowda LH, Shenoy PM, Sripathi S, Varman M.

BMJ Case Rep. 2014 Mar 20;2014. pii: bcr2014203887. doi: 10.1136/bcr-2014-203887. No abstract available.

PMID:
24654256
9.

Joubert syndrome: a case report.

Singh J, Gathwala G, Agarwal S, Monika, Vaswani ND.

J Indian Med Assoc. 2011 May;109(5):348-9.

PMID:
22187775
10.

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.

11.

Breathing instability in Joubert syndrome.

Fabbri M, Vetrugno R, Provini F, Bosi M, Santucci M.

Mov Disord. 2012 Jan;27(1):64. doi: 10.1002/mds.23999. Epub 2011 Nov 17. No abstract available.

PMID:
22095738
12.

Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum?

Poretti A, Singhi S, Huisman TA, Meoded A, Jallo G, Ozturk A, Boltshauser E, Tekes A.

Neuropediatrics. 2011 Aug;42(4):170-4. doi: 10.1055/s-0031-1287763. Epub 2011 Sep 19.

PMID:
21932183
13.

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
14.

Optic disc drusen mimicking papilledema in an infant with Joubert syndrome.

Yilmaz S, Biler ED, Solmaz AE, Serdaroglu G, Tekin HG, Gokben S.

Genet Couns. 2015;26(1):35-9.

PMID:
26043505
15.

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
16.

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
17.

Total intravenous anesthesia in a patient with Joubert-Boltshauser syndrome.

Buntenbroich S, Dullenkopf A.

Paediatr Anaesth. 2013 Feb;23(2):204-5. doi: 10.1111/pan.12087. No abstract available.

PMID:
23289777
18.

Joubert syndrome overlapping with Dandy-Walker malformation.

Bozkurt O, Nur Sari F, Alyamaç Dizdar E, Suna Oguz S, Dilmen U.

Genet Couns. 2014;25(1):75-6. No abstract available.

PMID:
24783660
19.

Joubert syndrome with nephronophthisis in neurofibromatosis type 1.

Ahmed J, Ali US.

Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.

20.

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
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