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ARVO Annual Meeting Abstract June 2022

VSX2 variants are responsible for bipolar cell dysfunction with distinct lens and chorioretinal alterations.

Vasily M. SMIRNOV; Matthieu Robert; Christel Condroyer; Aline Antonio; Jean-Michel Rozet; Jose Alain Sahel; Isabelle Perrault; Isabelle S Audo; Christina Zeitz

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):487 – A0064.

ARVO Annual Meeting Abstract July 2019

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Beatrice BOCQUET; Claire-Marie Dhaenens; Isabelle Perrault; Jean-Michel Rozet; Josseline Kaplan; Anne Francoise Roux; Dalil Hamroun; Gabriel Gardes; Gael Manes; Elfride De Baere; Bart P Leroy; Vasiliki Kalatzis; Isabelle Anne Meunier

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2948.

Genetics March 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

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Sarah Hull; Nicholas Owen; Farrah Islam; Dhani Tracey-White; Vincent Plagnol; Graham E. Holder; Michel Michaelides; Keren Carss; F. Lucy Raymond; Jean-Michel Rozet; Simon C. Ramsden; Graeme C. M. Black; Isabelle Perrault; Ajoy Sarkar; Mariya Moosajee; Andrew R. Webster; Gavin Arno; Anthony T. Moore
TAGS: biological transport, genes, mutation, family
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):1053-1062. https://doi.org/10.1167/iovs.15-17976

Includes: Supplemental Content

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

Delta1-pyrroline-5-carboxylate Synthase Deficiency: Histological Study Of The Crystalline Lens

Olivier Roche; Elias ADJADJ; Matthieu ROBERT; Christophe ORSSAUD; Jean Michel ROZET; Josseline KAPLAN; Jean Louis DUFIER

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1058.

ARVO Annual Meeting Abstract March 2012

T280M Polymorphism Of The Cx3cr1 Gene Is Not Associated With Exsudative Age-related Macular Degeneration In The French Population

Nathalie Puche; Jennyfer Zerbib; Nicolas Leveziel; Salomon Y. Cohen; Florence Richard; Jean-Francois Korobelnik; Jose A. Sahel, Jr.; Josseline Kaplan; Jean-Michel Rozet; Eric H. Souied

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):3313.

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.

Retina June 2011

The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene

PDF

Giuseppe Querques; Jennyfer Zerbib; Rossana Santacroce; Maurizio Margaglione; Nathalie Delphin; Lea Querques; Jean-Michel Rozet; Josseline Kaplan; Eric H. Souied
TAGS: electrooculography, genes, mutation, vitelliform dystrophy, eye, family
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4678-4684. https://doi.org/10.1167/iovs.10-6500

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.

Biochemistry and Molecular Biology May 2001

Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)

PDF

Jean-Michel Rozet; Isabelle Perrault; Sylvie Gerber; Sylvain Hanein; Fabienne Barbet; Dominique Ducroq; Eric Souied; Arnold Munnich; Josseline Kaplan
TAGS: catalysis, guanylate cyclase, leber's amaurosis, mutation, proteins
Invest. Ophthalmol. Vis. Sci.. 2001; 42(6):1190-1192.

Retina January 2000

ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration

PDF

Eric H. Souied; Dominique Ducroq; Jean–Michel Rozet; Sylvie Gerber; Isabelle Perrault; Arnold Munnich; Gabriel Coscas; Gisèle Soubrane; Josseline Kaplan
TAGS: exudative age-related macular degeneration, genes, codon nucleotides
Invest. Ophthalmol. Vis. Sci.. 2000; 41(1):244-247.

Retina October 1999

A Novel ABCR Nonsense Mutation Responsible for Late-Onset Fundus Flavimaculatus

PDF

Eric H. Souied; Dominique Ducroq; Jean–Michel Rozet; Sylvie Gerber; Isabelle Perrault; Margaret Sterkers; Nathanael Benhamou; Arnold Munnich; Gabriel Coscas; Gisèle Soubrane; Josseline Kaplan
TAGS: mutation, nonsense, stargardt's disease, mutation, genes, heterozygote
Invest. Ophthalmol. Vis. Sci.. 1999; 40(11):2740-2744.

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VSX2 variants are responsible for bipolar cell dysfunction with distinct lens and chorioretinal alterations.

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140

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

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

AON intravitreal injections allows manipulating splicing in retinal cells.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Delta1-pyrroline-5-carboxylate Synthase Deficiency: Histological Study Of The Crystalline Lens

T280M Polymorphism Of The Cx3cr1 Gene Is Not Associated With Exsudative Age-related Macular Degeneration In The French Population

Rd3 Mutations Are Responsible For Gucy2d-like Lca

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

The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene

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

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

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

Complete Abolition of the Retinal-Specific Guanylyl Cyclase (retGC-1) Catalytic Ability Consistently Leads to Leber Congenital Amaurosis (LCA)

ABCR Gene Analysis in Familial Exudative Age-Related Macular Degeneration

A Novel ABCR Nonsense Mutation Responsible for Late-Onset Fundus Flavimaculatus

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