Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

by Michalitsa Diakatou, Gaël Manes, Beatrice Bocquet, Isabelle Meunier, Vasiliki Kalatzis
Published 2019-05-01

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

by Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O Artemyev, Christian P Hamel, Philippe Brabet
Published 2014-01-01

Characterization of SSBP1-related optic atrophy and foveopathy

by Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers
Published 2021-09-01

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1 </i>Pathologic Variant in the French Leber Congenital Amaurosis Cohort

by Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
Published 2021-02-01

Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

by Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Published 2021-06-01

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

by Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing
Published 2018-01-01

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

by Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
Published 2021-09-01

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

by Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier
Published 2018-05-01