Kaplan J - Search Results

1

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Gerard X, Perrault I, Hanein S, Silva E, Bigot K, Defoort-Delhemmes S, Rio M, Munnich A, Scherman D, Kaplan J, Kichler A, Rozet JM. Gerard X, et al. Among authors: kaplan j. Mol Ther Nucleic Acids. 2012 Jun 26;1(6):e29. doi: 10.1038/mtna.2012.21. Mol Ther Nucleic Acids. 2012. PMID: 23344081 Free PMC article.

2

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

Porto FB, Perrault I, Hicks D, Rozet JM, Hanoteau N, Hanein S, Kaplan J, Sahel JA. Porto FB, et al. Among authors: kaplan j. J Gene Med. 2002 Jul-Aug;4(4):390-6. doi: 10.1002/jgm.278. J Gene Med. 2002. PMID: 12124981

3

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Hanein S, Perrault I, Olsen P, Lopponen T, Hietala M, Gerber S, Jeanpierre M, Barbet F, Ducroq D, Hakiki S, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: kaplan j. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Hum Mutat. 2002. PMID: 12325031

4

The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J. Ducroq D, et al. Among authors: kaplan j. Am J Hum Genet. 2002 Dec;71(6):1480-2. doi: 10.1086/344829. Am J Hum Genet. 2002. PMID: 12515255 Free PMC article. No abstract available.

5

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

Gerber S, Perrault I, Hanein S, Shalev S, Zlotogora J, Barbet F, Ducroq D, Dufier J, Munnich A, Rozet J, Kaplan J. Gerber S, et al. Among authors: kaplan j. Ophthalmic Genet. 2002 Dec;23(4):225-35. doi: 10.1076/opge.23.4.225.13879. Ophthalmic Genet. 2002. PMID: 12567265

6

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. Barbet F, et al. Among authors: kaplan j. Eur J Hum Genet. 2003 Dec;11(12):966-71. doi: 10.1038/sj.ejhg.5201070. Eur J Hum Genet. 2003. PMID: 14508503

7

NDP gene mutations in 14 French families with Norrie disease.

Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. Royer G, et al. Among authors: kaplan j. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204. Hum Mutat. 2003. PMID: 14635119

8

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: kaplan j. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.

9

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

Porto FB, Perrault I, Hicks D, Rozet JM, Hanoteau N, Hanein S, Kaplan J, Sahel JA. Porto FB, et al. Among authors: kaplan j. Adv Exp Med Biol. 2003;533:59-68. Adv Exp Med Biol. 2003. PMID: 15180248 No abstract available.

10

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

Perrault I, Gerber S, Hanein S, Picaud S, Rozet JM, Dufier JL, Munnich A, Sahel J, Kaplan J. Perrault I, et al. Among authors: kaplan j. Adv Exp Med Biol. 2003;533:69-77. doi: 10.1007/978-1-4615-0067-4_9. Adv Exp Med Biol. 2003. PMID: 15180249 Review. No abstract available.

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