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ARVO Annual Meeting Abstract June 2017

A phloroglucinol-DHA derivative protects against light-induced retinal degeneration in an Abca4-deficient mouse model

Philippe Brabet; Aurélie CUBIZOLLE; Céline CRAUSTE; Laurent GUILLOU; Anne-Laure BONNEFONT; Joseph VERCAUTEREN; Thierry DURAND; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2031.

ARVO Annual Meeting Abstract June 2017

COMPREHENSIVE ANALYSIS OF PTC-124 THERAPY FOR CHOROIDEREMIA

Simona Torriano; Nejla Erkilic; David Baux; Valerie de Luca; Nicholas Cereso; Mariya Moosajee; Christian P Hamel; Anne-Francoise Roux; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):622.

ARVO Annual Meeting Abstract June 2017

A human iPSc-derived RPE model of Retinitis Punctata Albescens

Krishna Damodar; Nejla Erkilic; Laurent GUILLOU; Daria Mamaeva; Marie Pequignot; Aude Conscience; Lorenne Robert; Philippe Brabet; Christian P Hamel; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):625.

ARVO Annual Meeting Abstract June 2017

How genetic instability in choroideremia-specific iPSc uncovered a segregating translocation.

Nejla Erkilic; Pauline Bouret; Simona Torriano; Krishna Damodar; Christian P Hamel; Franck Pellestor; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2296.

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758.

ARVO Annual Meeting Abstract June 2017

Retinal cardiolipin metabolism is altered in a mouse model of Dominant Optic Atrophy.

Emmanuelle Sarzi; Allel Chabli; Marie Seveno; Christian P Hamel; Agnes Müller; Guy Lenaers; Cecile Delettre

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3321.

ARVO Annual Meeting Abstract June 2017

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

Gael Manes; Willy Joly; Thomas Guignard; Béatrice Bocquet; Patrick Carroll; David Geneviève; Bernard Puech; Christian P Hamel; Isabelle Meunier

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4510.

Visual Neuroscience March 2017

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

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Marion Neuillé; Yan Cao; Romain Caplette; Debbie Guerrero-Given; Connon Thomas; Naomi Kamasawa; José-Alain Sahel; Christian P. Hamel; Isabelle Audo; Serge Picaud; Kirill A. Martemyanov; Christina Zeitz
TAGS: mice, retinal bipolar cells, retinal cone, synapses, synaptic transmission, rod photoreceptors, retina, dendrites, biopharmaceutics classification system, immunohistochemistry
Invest. Ophthalmol. Vis. Sci.. 2017; 58(3):1768-1778. https://doi.org/10.1167/iovs.16-20745

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Clinical characterization and genotype-phenotype correlations in PDE6A -related retinitis pigmentosa

Ditta Zobor; Laura Kühlewein; Nicole Weisschuh; Christian P Hamel; Bart Peter Leroy; Sten Andreasson; Ayuso Carmen; Günther Rudolph; Bernd Wissinger; Susanne Kohl; Eberhart Zrenner

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):152.

ARVO Annual Meeting Abstract September 2016

Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy

Frauke Coppieters; Giulia Ascari; Konstantinos Nikopoulos; Mingchu Xu; Thomas Langmann; Rui Chen; Carlo Rivolta; Christian P Hamel; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):637.

ARVO Annual Meeting Abstract September 2016

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Galuh D.N. Astuti; Tamar Ben-Yosef; Susanne Kohl; Rando Allikmets; Graeme C.M. Black; Shomi S Bhattacharya; Christian P Hamel; M Imran Khan; Lonneke Haer-Wigman; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract September 2016

Wolfram Syndrome murine models: phenotyping and gene therapy

Jolanta Malgorzata Jagodzinska; Delphine Bonnet-Wersinger; Sulev Koks; Benjamin Delprat; Christian P Hamel; Cecile Delettre-Cirballet

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4040.

ARVO Annual Meeting Abstract September 2016

Screening of WFS1 in autosomal recessive and dominant optic atrophies: mutation findings in non-syndromic optic atrophy and assessment of clinical severity

Joanna Grenier; Vincent Daien; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5062.

ARVO Annual Meeting Abstract September 2016

Genes encoding the extracellular matrix proteins SPACR ( IMPG1 ) and SPACRCAN ( IMPG2 ) cause macular vitelliform dystrophies

Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract June 2015

Comprehensive molecular diagnosis of a large cohort of 240 autosomal dominant retinitis pigmentosa families by Sanger and targeted next generation sequencing

Gael Manes; Tremeur Guillaumie; Isabelle S Audo; Christina Zeitz; Aurore Devos; Béatrice Bocquet; Corinne Baudoin; Isabelle Meunier; Claire-Marie Dhaenens; Christian P Hamel; adRP research team (Paris XV/XX)

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1264.

ARVO Annual Meeting Abstract June 2015

Defective mer-tyrosine kinase (mer-TK) function is associated with anti-arrestin and anti- interphotoreceptor retinoid-binding protein (IRBP) autoantibodies (AAbs) in Mer, Axl, Tyro3 -/- (TAM) mice and in autosomal recessive retinitis pigmentosa (arRP) patients with a null MERTK mutation

Rebecca Epstein; David New; TJ Hollingsworth; Isabelle Meunier; Nataliya Lenchik; Qingxian Lu; Ivan Gerling; Christian P Hamel; Marko Radic; Alessandro Iannaccone

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):169.

ARVO Annual Meeting Abstract June 2015

SF3B2 , a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van Cauwenbergh; Kris Vleminckx; Frauke Coppieters; Marcus Karlstetter; Thomas Langmann; Gael Manes; Christian P Hamel; Bart Peter Leroy; Elfride De Baere; adRP Study Group

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2873.

ARVO Annual Meeting Abstract June 2015

Polyunsaturated Fatty Acid-Phloroglucinol conjugates protect RPE and Neural Retina against All- trans -Retinal-induced Damages

Philippe Brabet; Cubizolle Aurélie; David Cia; Celine Crauste; laurent guillou; Nathalie Jacquemot; Claire Vigor; Claire Angebault; Joseph Vercauteren; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):29.

ARVO Annual Meeting Abstract June 2015

Human FATP1 overexpression in mouse retinal pigment epithelium.

Aurélie Cubizolle; laurent guillou; Claire Angebault; marie seveno; chantal cazevieille; Guy Lenaers; Philippe Brabet; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):5456.

ARVO Annual Meeting Abstract April 2014

Studying the pathophysiology of Choroideremia through a patient-specific iPSc-derived RPE

Marie Pequignot; Nicolas Cereso; Cecile Hilaire; Christian P Hamel; Vasiliki Kalatzis

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):1344.

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A phloroglucinol-DHA derivative protects against light-induced retinal degeneration in an Abca4-deficient mouse model

COMPREHENSIVE ANALYSIS OF PTC-124 THERAPY FOR CHOROIDEREMIA

A human iPSc-derived RPE model of Retinitis Punctata Albescens

How genetic instability in choroideremia-specific iPSc uncovered a segregating translocation.

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Retinal cardiolipin metabolism is altered in a mouse model of Dominant Optic Atrophy.

North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

Clinical characterization and genotype-phenotype correlations in PDE6A -related retinitis pigmentosa

Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Wolfram Syndrome murine models: phenotyping and gene therapy

Screening of WFS1 in autosomal recessive and dominant optic atrophies: mutation findings in non-syndromic optic atrophy and assessment of clinical severity

Genes encoding the extracellular matrix proteins SPACR ( IMPG1 ) and SPACRCAN ( IMPG2 ) cause macular vitelliform dystrophies

Comprehensive molecular diagnosis of a large cohort of 240 autosomal dominant retinitis pigmentosa families by Sanger and targeted next generation sequencing

Defective mer-tyrosine kinase (mer-TK) function is associated with anti-arrestin and anti- interphotoreceptor retinoid-binding protein (IRBP) autoantibodies (AAbs) in Mer, Axl, Tyro3 -/- (TAM) mice and in autosomal recessive retinitis pigmentosa (arRP) patients with a null MERTK mutation

SF3B2 , a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Polyunsaturated Fatty Acid-Phloroglucinol conjugates protect RPE and Neural Retina against All- trans -Retinal-induced Damages

Human FATP1 overexpression in mouse retinal pigment epithelium.

Studying the pathophysiology of Choroideremia through a patient-specific iPSc-derived RPE

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