Barbet F - Search Results

1

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

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. Among authors: barbet f. 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: barbet f. Ophthalmic Genet. 2002 Dec;23(4):225-35. doi: 10.1076/opge.23.4.225.13879. Ophthalmic Genet. 2002. PMID: 12567265

4

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

5

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: barbet f. 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.

6

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: barbet f. Hum Mutat. 2005 Feb;25(2):222. doi: 10.1002/humu.9304. Hum Mutat. 2005. PMID: 15643614

7

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Kaplan J, Rozet JM. Barbet F, et al. Adv Exp Med Biol. 2006;572:21-7. doi: 10.1007/0-387-32442-9_4. Adv Exp Med Biol. 2006. PMID: 17249550 No abstract available.

8

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM. Gerber S, et al. Among authors: barbet f. Eur J Hum Genet. 2001 Aug;9(8):561-71. doi: 10.1038/sj.ejhg.5200689. Eur J Hum Genet. 2001. PMID: 11528500

9

Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

Rozet JM, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, Souied E, Munnich A, Kaplan J. Rozet JM, et al. Among authors: barbet f. Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2. Invest Ophthalmol Vis Sci. 2001. PMID: 11328726

10

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

Perrault I, Hanein S, Gerber S, Barbet F, Dufier JL, Munnich A, Rozet JM, Kaplan J. Perrault I, et al. Among authors: barbet f. J Med Genet. 2003 Jul;40(7):e90. doi: 10.1136/jmg.40.7.e90. J Med Genet. 2003. PMID: 12843339 Free PMC article. No abstract available.

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