Similar articles for PMID: 15786477

Year	Number of Results
1969	1
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1987	1
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1999	5
2000	1
2001	1
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2004	4
2005	6
2006	5
2007	3
2008	1
2011	1
2012	1
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2017	1
2024	0

1

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.

2

Homozygosity mapping of a third Joubert syndrome locus to 6q23.

Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. Lagier-Tourenne C, et al. J Med Genet. 2004 Apr;41(4):273-7. doi: 10.1136/jmg.2003.014787. J Med Genet. 2004. PMID: 15060101 Free PMC article.

3

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 JM Jr, Maria BL, Barkovich AJ, Dobyns WB. Gleeson JG, et al. Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117. doi: 10.1002/ajmg.a.20437. Am J Med Genet A. 2004. PMID: 14981712

4

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.

5

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci.

Bouhlal Y, El-Euch-Fayeche G, Amouri R, Hentati F. Bouhlal Y, et al. Acta Myol. 2005 Oct;24(2):155-61. Acta Myol. 2005. PMID: 16550933

6

Clinical nosologic and genetic aspects of Joubert and related syndromes.

Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.

7

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. Maria BL, et al. J Child Neurol. 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. J Child Neurol. 1999. PMID: 10385844 Clinical Trial.

8

Clinical features and revised diagnostic criteria in Joubert syndrome.

Maria BL, Boltshauser E, Palmer SC, Tran TX. Maria BL, et al. J Child Neurol. 1999 Sep;14(9):583-90; discussion 590-1. doi: 10.1177/088307389901400906. J Child Neurol. 1999. PMID: 10488903

9

A case of Joubert's syndrome with extensive cerebral malformations.

ten Donkelaar HJ, Hoevenaars F, Wesseling P. ten Donkelaar HJ, et al. Clin Neuropathol. 2000 Mar-Apr;19(2):85-93. Clin Neuropathol. 2000. PMID: 10749289

10

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. Ferland RJ, et al. Nat Genet. 2004 Sep;36(9):1008-13. doi: 10.1038/ng1419. Epub 2004 Aug 22. Nat Genet. 2004. PMID: 15322546

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