AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

por Barny, Iris, Perrault, Isabelle, Michel, Christel, Goudin, Nicolas, Defoort-Dhellemmes, Sabine, Ghazi, Imad, Kaplan, Josseline, Rozet, Jean-Michel, Gerard, Xavier
Publicado 2019

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy

por Lacassagne, Emmanuelle, Dhuez, Aurore, Rigaudière, Florence, Dansault, Anouk, Vêtu, Christelle, Bigot, Karine, Vieira, Véronique, Puech, Bernard, Defoort-Dhellemmes, Sabine, Abitbol, Marc
Publicado 2011

Characterization of SSBP1-related optic atrophy and foveopathy

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

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

por Geada, Sara, Teixeira-Marques, Francisco, Teixeira, Bruno, Carvalho, Ana Luísa, Lousan, Nuno, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Dhaenens, Claire-Marie, Blanchet, Catherine, Meunier, Isabelle, Marques, João Pedro
Publicado 2023

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

por Mairot, Kévin, Smirnov, Vasily, Bocquet, Béatrice, Labesse, Gilles, Arndt, Carl, Defoort-Dhellemmes, Sabine, Zanlonghi, Xavier, Hamroun, Dalil, Denis, Danièle, Picot, Marie-Christine, David, Thierry, Grunewald, Olivier, Pégart, Mako, Huguet, Hélèna, Roux, Anne-Françoise, Kalatzis, Vasiliki, Dhaenens, Claire-Marie, Meunier, Isabelle
Publicado 2021

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

por Poncet, Anaïs F., Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G., Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F., Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M., Dhaenens, Claire-Marie
Publicado 2022

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy

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

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

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

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

por Meunier, Isabelle, Bocquet, Béatrice, Labesse, Gilles, Zeitz, Christina, Defoort-Dhellemmes, Sabine, Lacroux, Annie, Mauget-Faysse, Martine, Drumare, Isabelle, Gamez, Anne-Sophie, Mathieu, Cyril, Marquette, Virginie, Sagot, Lola, Dhaenens, Claire-Marie, Arndt, Carl, Carroll, Patrick, Remy-Jardin, Martine, Cohen, Salomon Yves, Sahel, José-Alain, Puech, Bernard, Audo, Isabelle, Mrejen, Sarah, Hamel, Christian P.
Publicado 2016

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

por Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Publicado 2020

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

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

CNGB1‐related rod‐cone dystrophy: A mutation review and update

por Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle
Publicado 2021