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Meeting Abstract (29)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (32)

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ARVO Annual Meeting Abstract (29)
Retina (2)
Biochemistry and Molecular Biology (1)

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Eye Anatomy and Disorders (3)
Genetics (3)
Retina (3)
Biochemistry and Molecular Biology (1)

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genes (2)
mutation (2)
catalysis (1)
codon nucleotides (1)
exudative age-related macular degeneration (1)
guanylate cyclase (1)
heterozygote (1)
leber's amaurosis (1)
mutation, nonsense (1)
proteins (1)

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ARVO Annual Meeting Abstract June 2015

Comprehensive molecular diagnosis of 160 Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy by targeted next generation sequencing.

Isabelle Perrault; Sylvain Hanein; Christine Bole; Patrick Nitschke; Nathalie delphin; Olivia Xerri; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1252.

ARVO Annual Meeting Abstract June 2015

Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy is likely pathognomonic of NMNAT1 mutations

Olivia Xerri; Isabelle Perrault; Sylvain Hanein; Nathalie Delphin; Lucas Fares-Taie; Sylvie Gerber; Olivier Roche; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2882.

ARVO Annual Meeting Abstract April 2014

AON intravitreal injections allows manipulating splicing in retinal cells.

Xavier GERARD; Isabelle Perrault; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3313.

ARVO Annual Meeting Abstract June 2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Eduardo Silva; Arnold Munnich; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3363.

ARVO Annual Meeting Abstract March 2012

Rd3 Mutations Are Responsible For Gucy2d-like Lca

Josseline Kaplan; Sylvain Hanein; Nathalie Delphin; Sylvie Gerber; Catherine Edelson; Nisrine Aboussair; Olivier Roche; Arnold Munnich; Isabelle Perrault; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4535.

ARVO Annual Meeting Abstract March 2012

Antisense Oligonucleotide-mediated Exon Skipping Improves Primary Cilia Assembly In Fibroblasts Harbouring The Common Lca Cep290 C.2991+1655g>A Mutation

Jean-Michel Rozet; Xavier Gerard; Isabelle Perrault; Eduardo Silva; Karine Bigot; Sabine Defoort-Delhemmes; Arnold Munnich; Daniel Scherman; Antoine Kichler; Josseline Kaplan

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1920.

ARVO Annual Meeting Abstract April 2011

Association Study Between Mitochondrial Dna Polymorphisms And Risk Of Age-related Macular Degeneration

Julien Tilleul, Jr.; Florence Richard; Nathalie Puche; Jennyfer Zerbib; Nicolas Leveziel; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet; Eric H. Souied

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5266.

ARVO Annual Meeting Abstract April 2011

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Jean-Michel Rozet; Remi Salomon; Nathalie Delphin; Eduardo D. Silva; Helene Dollfus; Christian P. Hamel; Arnold Munnich; Sophie Saunier; Josseline Kaplan; Isabelle Perrault

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5368.

ARVO Annual Meeting Abstract April 2011

Unexpected Retinal Expression In A Three-generation Family Of Females Who Turned Out To Be Carriers Of X-linked Retinitis Pigmentosa

Josseline Kaplan; Nathalie Delphin; Stephanie Gobin; Jean-Paul Bonnefont; Arnold Munnich; Jean-Louis Dufier; Jean-Michel Rozet; Olivier Roche

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5397.

ARVO Annual Meeting Abstract April 2009

Mutations in a Gene Encoding a Mitochondrial Protein as a First Cause of Recessively Inherited Simple Optic Atrophy

S. Hanein; I. Perrault; O. Roche; S. Gerber; B. Leroy; F. Meire; A. Munnich; J.-L. Dufier; J. Kaplan; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):2329.

ARVO Annual Meeting Abstract April 2009

Candidate Genes Study in Aged-Related Macular Degeneration (amd) in Patients Who Do Not Carry the at-Risk Alleles for Cfh and Loc387715 Genes

J. Zerbib; N. Leveziel; F. Richard; J. Feingold; G. Coscas; G. Soubane; A. Munnich; J. Kaplan; J.-M. Rozet; E. Souied

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):1609.

ARVO Annual Meeting Abstract May 2007

Frequency of RP2 and RPGR Mutations in Male Sibships and in Sporadic Male Patients Affected With Retinitis Pigmentosa

J. Kaplan; N. Delphin; V. Pelletier; Hé. Dollfus; J.-L. Dufier; O. Roche; A. Munnich; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1649.

ARVO Annual Meeting Abstract May 2007

Spectrum of NPHP6 (CEP290) Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype

I. Perrault; N. Delphin; S. Hanein; S. Gerber; J.-L. Dufier; O. Roche; Hé. Dollfus; A. Munnich; J. Kaplan; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1653.

ARVO Annual Meeting Abstract May 2007

Morphological Abnormalities of the Mitochondrial Network in Fibroblasts of Patients Affected With Autosomal Dominant and Recessive Optic Neuropathies

J.-M. Rozet; S. Gerber; N. Khadom; A. Munnich; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):4413.

ARVO Annual Meeting Abstract May 2006

Usher Syndrome Type 1a: From Myth to Reality

J. Kaplan; S. Gerber; D. Bonneau; A. Munnich; J.–L. Dufier; J.–M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):4605.

ARVO Annual Meeting Abstract May 2006

Pilot Study of Patients Affected With Leber Congenital Amaurosis (LCA) Clinically Selected With Regard to the Previously Established Genotype–Phenotype Correlations

S. Hanein; I. Perrault; N. Delphin; S. Gerber; J.–L. Dufier; A. Munnich; J.–M. Rozet; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1686.

ARVO Annual Meeting Abstract May 2006

Three Different ABCA4 Mutations in the Same Large Consanguineous Family Affected With Autosomal Recessive Cone–Rod Dystrophy: Further Evidence for a High Frequency of ABCA4 Heterozygote Carriers

D. Ducroq; S. Shalev; A. Habib; A. Munnich; J. Kaplan; J.–M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1698.

ARVO Annual Meeting Abstract May 2006

Histological Findings in GUCY2D–/– x PDERd10/rd10 Double Mutant Mice Suggest a Protective Effect of cGMP Depletion in Photoreceptors Lacking Rod–Specific PDE Function

J. Rozet; I. Perrault; K. Bigot; A. Provot; L. Vede; A. Munnich; M. Abitbol; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1049.

ARVO Annual Meeting Abstract May 2005

A Third Locus for Dominant Optic Atrophy on Chromosome 22q

J. Rozet; F. Barbet; J.–L.L. Dufier; A. Munnich; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):2292.

ARVO Annual Meeting Abstract May 2005

A Novel Mutation in the GUCY2D Gene Responsible for an Early–Onset Severe RP Different From the Usual GUCY2D–LCA Phenotype

J. Kaplan; I. Perrault; S. Hanein; S. Gerber; J.–L.L. Dufier; A. Munnich; J.–M.M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1810.

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