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Items: 1 to 20 of 173

1.

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham Jr JM, Maria BL, Barkovich AJ, Dobyns WB.

Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117.

PMID:
14981712
2.

The face of Joubert syndrome: a study of dysmorphology and anthropometry.

Braddock SR, Henley KM, Maria BL.

Am J Med Genet A. 2007 Dec 15;143A(24):3235-42.

PMID:
18000967
3.

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

Satran D, Pierpont ME, Dobyns WB.

Am J Med Genet. 1999 Oct 29;86(5):459-69. Review.

PMID:
10508989
4.

Genotypes and phenotypes of Joubert syndrome and related disorders.

Valente EM, Brancati F, Dallapiccola B.

Eur J Med Genet. 2008 Jan-Feb;51(1):1-23. doi: 10.1016/j.ejmg.2007.11.003. Epub 2007 Nov 23. Review.

PMID:
18164675
5.

Joubert syndrome associated with new MRI findings and posterior reversible encephalopathy syndrome.

Yerdelen D, Koç F, Koç Z.

Acta Neurol Belg. 2009 Mar;109(1):49-52.

PMID:
19402575
6.

Clinical features and revised diagnostic criteria in Joubert syndrome.

Maria BL, Boltshauser E, Palmer SC, Tran TX.

J Child Neurol. 1999 Sep;14(9):583-90; discussion 590-1.

PMID:
10488903
7.

Joubert syndrome (and related disorders) (OMIM 213300).

Parisi MA, Doherty D, Chance PF, Glass IA.

Eur J Hum Genet. 2007 May;15(5):511-21. Epub 2007 Mar 21.

8.

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.

Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E.

J Child Neurol. 1999 Jun;14(6):368-76.

PMID:
10385844
9.

[Joubert's syndrome: report of 12 cases].

Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Gonçalvez S, Barbot MC.

Rev Neurol. 2001 May 1-15;32(9):812-7. Spanish.

PMID:
11424029
10.

Joubert's syndrome: new cases and review of clinicopathologic correlation.

Sztriha L, Al-Gazali LI, Aithala GR, Nork M.

Pediatr Neurol. 1999 Apr;20(4):274-81.

PMID:
10328276
11.

Clinics in diagnostic imaging (118).

Subramanian S, Hari S, Santosh Kumar S.

Singapore Med J. 2007 Sep;48(9):869-72; quiz 873.

12.

A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".

Caglayan AO, Gumus H, Yikilmaz A, Gumus GO, Per H.

Genet Couns. 2009;20(4):359-65.

PMID:
20162871
13.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG.

Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18.

14.

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM.

Am J Med Genet A. 2007 Aug 1;143A(15):1715-25.

PMID:
17603801
15.

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.

Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4.

16.

Joubert syndrome with atrial septal defect and persistent left superior vena cava.

Elmali M, Ozmen Z, Ceyhun M, Tokatlioğlu O, Incesu L, Diren B.

Diagn Interv Radiol. 2007 Jun;13(2):94-6.

17.

Development and dysmorphism in Joubert syndrome--short case series from India.

Koshy B, Oommen SP, Jasper S, Danda S, Surendrababu NR.

J Trop Pediatr. 2010 Jun;56(3):209-12. doi: 10.1093/tropej/fmp084. Epub 2009 Sep 15.

PMID:
19755534
18.

Renal insufficiency is a component of COACH syndrome.

Kumar S, Rankin R.

Am J Med Genet. 1996 Jan 11;61(2):122-6.

PMID:
8669436
19.

Clinical nosologic and genetic aspects of Joubert and related syndromes.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB.

J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. Review.

PMID:
10511339
20.

The 'molar tooth sign' in Joubert syndrome.

Rehman Iu, Bett Z, Husen Y, Akhtar AS, Khan FA.

J Pak Med Assoc. 2009 Dec;59(12):851-3.

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