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ARVO Annual Meeting Abstract June 2022

Molecular analyses of two novel mutations in Rhodopsin causing Congenital Stationary Night Blindness

Valeria Marigo; Andrea Bighinati; Gaël Manes; Béatrice Bocquet; Angelo Nicola Felline; Francesca Fanelli

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):506 – A0083.

ARVO Annual Meeting Abstract June 2020

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume OLIVIER; Beatrice BOCQUET; Carlo Rivolta; Ervann Andreo; Agnes Muller; Christian Hamel; Alice MASUREL; Catherine P Creuzot Garcher; Laurence FAIVRE; Isabelle Anne Meunier; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2401.

ARVO Annual Meeting Abstract July 2019

CPH1, a new gene for Dominant Optic Atrophy

Cecile Delettre Cribaillet; Camille Mégy; Xavier Zanlonghi; Isabelle Anne Meunier; Marie O Pequignot; Mélanie Quiles; Christian Hamel; Agathe Roubertie; Nicole Weisschuh; Béatrice Bocquet; Guy Lenaers; Gael Manes; Bernd Wissinger; Maria Solà Vilarrubias; Hans Spelbrink; Emmanuelle Sarzi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2811.

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.

ARVO Annual Meeting Abstract July 2019

Impg1 and Impg2 knock down analysis in the development of medaka fish photoreceptors

Guillaume OLIVIER; Danila FALANGA; Francesco SALIERNO; Daniela INTARTAGLIA; Chantal CAZEVIEILLE; Elena POLISHCHU; Sandro Banfi; Agnès MULLER; Isabelle Anne Meunier; Ivan Conte; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3114.

ARVO Annual Meeting Abstract July 2018

Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa

Gael Manes; Xavier ZANLONGHI; Carmen Ayuso; Graeme Black; Guillaume OLIVIER; Béatrice Bocquet; Audrey Sénéchal; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2322.

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.

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

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 April 2014

Molecular characterization of SNRNP200 mutations causing autosomal dominant retinitis pigmentosa with incomplete penetrance and phenotypic variability

Carlo Rivolta; Paola Benaglio; Tremeur Guillaumie; Gael Manes; Shyana Harper; Eliot L Berson; Isabelle Meunier; Christian P Hamel

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3264.

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659.

ARVO Annual Meeting Abstract April 2011

Identification Of A New Locus In Autosomal Dominant Retinitis Pigmentosa And Strategy For Molecular Diagnosis

Christian P. Hamel; Delphine COUSTES-CHAZALETTE; Béatrice BOCQUET; Virginie DELAERE; Aurore DEVOS; Isabelle MEUNIER; Maxime HEBRARD; Claire-Marie DHAENENS; Gaël MANES; adRP French research team

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):74.

Retina July 2010

Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

PDF

Isabelle Audo; Gaël Manes; Saddek Mohand-Saïd; Anne Friedrich; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Oliver Poch; Xavier Zanlonghi; Christian P. Hamel; José-Alain Sahel; Shomi S. Bhattacharya; Christina Zeitz
TAGS: french, mutation, retinitis pigmentosa, rhodopsin, family, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3687-3700. https://doi.org/10.1167/iovs.09-4766

ARVO Annual Meeting Abstract April 2009

Prevalence of Mutations in BEST1 Gene in a Cohort of Patients With Presumed Best Disease

I. A. Meunier; G. Manes; B. Bocquet; C. Arndt; C. Hamel; A. Sénéchal

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):2810.

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