CHM mutation spectrum and disease: An update at the time of human therapeutic trials
Zeitz, Christina, Nassisi, Marco, Laurent‐Coriat, Caroline, Andrieu, Camille, Boyard, Fiona, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie‐Elise, Frederiksen, Helen, Kloeckener‐Gruissem, Barbara, El‐Shamieh, Said, Zanlonghi, Xavier, Meunier, Isabelle, Roux, Anne‐Françoise, Mohand‐Saïd, Saddek, Sahel, José‐Alain, Audo, Isabelle
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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CRB1 mutations in inherited retinal dystrophies
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
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
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
Published in Human molecular genetics (01.01.2015)
Published in Human molecular genetics (01.01.2015)
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WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy
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
Published in Clinical genetics (01.02.2021)
Published in Clinical genetics (01.02.2021)
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
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
Published in Orphanet journal of rare diseases (25.01.2012)
Published in Orphanet journal of rare diseases (25.01.2012)
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Journal Article
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)
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
Published in PloS one (05.03.2014)
Published in PloS one (05.03.2014)
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Journal Article
Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy
Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina, Saraiva, Jean-Paul, Letexier, Mélanie, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie-Elise, Boulanger-Scemama, Elise, El Shamieh, Said, Mohand-Saïd, Saddek
Published in BioMed research international (01.01.2015)
Published in BioMed research international (01.01.2015)
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Journal Article
A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness
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
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Journal Article
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients
Audo, Isabelle, Manes, Gaël, Mohand-Saïd, Saddek, Friedrich, Anne, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Oliver, Zanlonghi, Xavier, Hamel, Christian P, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Published in Investigative ophthalmology & visual science (01.07.2010)
Published in Investigative ophthalmology & visual science (01.07.2010)
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Journal Article
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
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
Published in BMC genetics (12.10.2010)
Published in BMC genetics (12.10.2010)
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Journal Article
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort
Audo, Isabelle, Lancelot, Marie-Elise, Mohand-Saïd, Saddek, Antonio, Aline, Germain, Aurore, Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Published in Human mutation (01.04.2011)
Published in Human mutation (01.04.2011)
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Journal Article
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein
Doumanov, Jordan A, Zeitz, Christina, Dominguez Gimenez, Paloma, 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
Published in International journal of molecular sciences (22.07.2013)
Published in International journal of molecular sciences (22.07.2013)
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Journal Article
EYS is a major gene for rod-cone dystrophies in France
Audo, Isabelle, Sahel, José-Alain, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Nandrot, Emeline F, Doumanov, Jordan, Barragan, Isabel, Antinolo, Guillermo, Bhattacharya, Shomi S, Zeitz, Christina
Published in Human mutation (01.05.2010)
Published in Human mutation (01.05.2010)
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Journal Article
Retrospective Natural History Study of RPGR -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
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
Published in International journal of molecular sciences (28.06.2022)
Published in International journal of molecular sciences (28.06.2022)
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Journal Article
Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
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
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Journal Article
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
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
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
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
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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Journal Article
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
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
Published in Biochimica et biophysica acta (01.08.2014)
Published in Biochimica et biophysica acta (01.08.2014)
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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2
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, Garcia Garrido, Marina, Tanimoto, Naoyuki, Seeliger, Mathias W, Biel, Martin, Wahl-Schott, Christian A
Published in Human molecular genetics (15.03.2014)
Published in Human molecular genetics (15.03.2014)
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Journal Article
Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort
Malaichamy, Sivasankar, Sen, Parveen, Sachidanandam, Ramya, Arokiasamy, Tharigopala, Lancelot, Marie Elise, Audo, Isabelle, Zeitz, Christina, Soumittra, Nagasamy
Published in Molecular vision (21.03.2014)
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Published in Molecular vision (21.03.2014)
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