Molecular profiling of complete congenital stationary night blindness: A pilot study on an Indian cohort

por Malaichamy, Sivasankar, Sen, Parveen, Sachidanandam, Ramya, Arokiasamy, Tharigopala, Lancelot, Marie Elise, Audo, Isabelle, Zeitz, Christina, Soumittra, Nagasamy
Publicado 2014

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

por Audo, Isabelle, Bujakowska, Kinga, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Moskova-Doumanova, Veselina, Waseem, Naushin H, Antonio, Aline, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado 2010

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

por Audo, Isabelle, Bujakowska, Kinga, Mohand-Saïd, Saddek, Tronche, Sophie, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi, Zeitz, Christina
Publicado 2011

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

por Neuillé, Marion, El Shamieh, Said, Orhan, Elise, Michiels, Christelle, Antonio, Aline, Lancelot, Marie-Elise, Condroyer, Christel, Bujakowska, Kinga, Poch, Olivier, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Publicado 2014

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

por El Shamieh, Said, Boulanger-Scemama, Elise, Lancelot, Marie-Elise, Antonio, Aline, Démontant, Vanessa, Condroyer, Christel, Letexier, Mélanie, Saraiva, Jean-Paul, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Publicado 2015

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

por Nassisi, Marco, De Bartolo, Giuseppe, Mohand-Said, Saddek, Condroyer, Christel, Antonio, Aline, Lancelot, Marie-Elise, Bujakowska, Kinga, Smirnov, Vasily, Pugliese, Thomas, Neidhardt, John, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publicado 2022

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

por Audo, Isabelle, Bujakowska, Kinga M, Léveillard, Thierry, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Germain, Aurore, Antonio, Aline, Michiels, Christelle, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado 2012

Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

por Doumanov, Jordan A., Zeitz, Christina, Gimenez, Paloma Dominguez, Audo, Isabelle, Krishna, Abhay, Alfano, Giovanna, Diaz, Maria Luz Bellido, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Sahel, José-Alain, Nandrot, Emeline F., Bhattacharya, Shomi S.
Publicado 2013

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2()

por Burtscher, Verena, Schicker, Klaus, Novikova, Elena, Pöhn, Birgit, Stockner, Thomas, Kugler, Christof, Singh, Anamika, Zeitz, Christina, Lancelot, Marie-Elise, Audo, Isabelle, Leroy, Bart Peter, Freissmuth, Michael, Herzig, Stefan, Matthes, Jan, Koschak, Alexandra
Publicado 2014