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 em 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 em 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 em 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 em 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 no Biomed Res Int (2015)

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

Por Audo, Isabelle, Manes, Gaël, Mohand-Saïd, Saddek, Friedrich, Anne, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Olivier, Zanlonghi, Xavier, Hamel, Christian P., Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado em 2010

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 em 2012

CRB1 mutations in inherited retinal dystrophies

Por Bujakowska, Kinga, Audo, Isabelle, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Léveillard, Thierry, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2011

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 em 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 em 2014

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

Por El Shamieh, Said, Neuillé, Marion, Terray, Angélique, Orhan, Elise, Condroyer, Christel, Démontant, Vanessa, Michiels, Christelle, Antonio, Aline, Boyard, Fiona, Lancelot, Marie-Elise, Letexier, Mélanie, Saraiva, Jean-Paul, Léveillard, Thierry, Mohand-Saïd, Saddek, Goureau, Olivier, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publicado em 2014

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

Por Michalakis, Stylianos, Shaltiel, Lior, Sothilingam, Vithiyanjali, Koch, Susanne, Schludi, Verena, Krause, Stefanie, Zeitz, Christina, Audo, Isabelle, Lancelot, Marie-Elise, Hamel, Christian, Meunier, Isabelle, Preising, Markus N., Friedburg, Christoph, Lorenz, Birgit, Zabouri, Nawal, Haverkamp, Silke, Garrido, Marina Garcia, Tanimoto, Naoyuki, Seeliger, Mathias W., Biel, Martin, Wahl-Schott, Christian A.
Publicado em 2014

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

Por Michalakis, Stylianos, Shaltiel, Lior, Sothilingam, Vithiyanjali, Koch, Susanne, Schludi, Verena, Krause, Stefanie, Zeitz, Christina, Audo, Isabelle, Lancelot, Marie-Elise, Hamel, Christian, Meunier, Isabelle, Preising, Markus N., Friedburg, Christoph, Lorenz, Birgit, Zabouri, Nawal, Haverkamp, Silke, Garrido, Marina Garcia, Tanimoto, Naoyuki, Seeliger, Mathias W., Biel, Martin, Wahl-Schott, Christian A.
Publicado no Hum Mol Genet (2017)

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

Por Riazuddin, S. Amer, Shahzadi, Amber, Zeitz, Christina, Ahmed, Zubair M., Ayyagari, Radha, Chavali, Venkata R.M., Ponferrada, Virgilio G., Audo, Isabelle, Michiels, Christelle, Lancelot, Marie-Elise, Nasir, Idrees A., Zafar, Ahmad U., Khan, Shaheen N., Husnain, Tayyab, Jiao, Xiaodong, MacDonald, Ian M., Riazuddin, Sheikh, Sieving, Paul A., Katsanis, Nicholas, Hejtmancik, J. Fielding
Publicado em 2010

WDR34, a candidate gene for non-syndromic rod-cone dystrophy

Por Solaguren-Beascoa, Maria, Bujakowska, Kinga M., Méjécase, Cécile, Emmenegger, Lisa, Orhan, Elise, Neuillé, Marion, Mohand-Saïd, Saddek, Condroyer, Christel, Lancelot, Marie-Elise, Michiels, Christelle, Demontant, Vanessa, Antonio, Aline, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Léveillard, Thierry, Pierce, Eric A., Dollfus, Hélène, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle, Zeitz, Christina
Publicado no Clin Genet (2020)

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Zeitz, Christina, Jacobson, Samuel G., Hamel, Christian P., Bujakowska, Kinga, Neuillé, Marion, Orhan, Elise, Zanlonghi, Xavier, Lancelot, Marie-Elise, Michiels, Christelle, Schwartz, Sharon B., Bocquet, Béatrice, Antonio, Aline, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Luu, Tien D., Sennlaub, Florian, Nguyen, Hoan, Poch, Olivier, Dollfus, Hélène, Lecompte, Odile, Kohl, Susanne, Sahel, José-Alain, Bhattacharya, Shomi S., Audo, Isabelle
Publicado em 2013

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

Por Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, Pierce, Eric A.
Publicado no Hum Mol Genet (2015)

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Audo, Isabelle, Kohl, Susanne, Leroy, Bart P., Munier, Francis L., Guillonneau, Xavier, Mohand-Saïd, Saddek, Bujakowska, Kinga, Nandrot, Emeline F., Lorenz, Birgit, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Bernd, Antje, Antonio, Aline, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Poloschek, Charlotte M., Drumare, Isabelle, Defoort-Dhellemmes, Sabine, Wissinger, Bernd, Léveillard, Thierry, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Berger, Wolfgang, Jacobson, Samuel G., Zrenner, Eberhart, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2009

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2012

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Por Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Publicado em 2012