Hanein S - Search Results

1

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: hanein s. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Hum Mutat. 2007. PMID: 17345604

2

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. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Hum Mutat. 2002. PMID: 12325031

3

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: hanein s. Ophthalmic Genet. 2002 Dec;23(4):225-35. doi: 10.1076/opge.23.4.225.13879. Ophthalmic Genet. 2002. PMID: 12567265

4

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: hanein s. Eur J Hum Genet. 2003 Dec;11(12):966-71. doi: 10.1038/sj.ejhg.5201070. Eur J Hum Genet. 2003. PMID: 14508503

5

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: hanein s. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204. Hum Mutat. 2003. PMID: 14635119

6

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. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010. Hum Mutat. 2004. PMID: 15024725 Free article.

7

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: hanein s. 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.

8

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: hanein s. Am J Hum Genet. 2004 Oct;75(4):639-46. doi: 10.1086/424889. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322982 Free PMC article.

9

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.

Perrault I, Hanein S, Gerber S, Lebail B, Vlajnik P, Barbet F, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: hanein s. Hum Mutat. 2005 Feb;25(2):222. doi: 10.1002/humu.9304. Hum Mutat. 2005. PMID: 15643614

10

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

Hanein S, Perrault I, Gerber S, Dollfus H, Dufier JL, Feingold J, Munnich A, Bhattacharya S, Kaplan J, Sahel JA, Rozet JM, Leveillard T. Hanein S, et al. Adv Exp Med Biol. 2006;572:9-14. doi: 10.1007/0-387-32442-9_2. Adv Exp Med Biol. 2006. PMID: 17249548 No abstract available.

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