A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
Sharon, Dror, Ben‐Yosef, Tamar, Goldenberg‐Cohen, Nitza, Pras, Eran, Gradstein, Libe, Soudry, Shiri, Mezer, Eedy, Zur, Dinah, Abbasi, Anan H., Zeitz, Christina, Cremers, Frans P. M., Khan, Muhammad I., Levy, Jaime, Rotenstreich, Ygal, Birk, Ohad S., Ehrenberg, Miriam, Leibu, Rina, Newman, Hadas, Shomron, Noam, Banin, Eyal, Perlman, Ido
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors
Cao, Yan, Wang, Yuchen, Dunn, Henry A., Orlandi, Cesare, Shultz, Nicole, Kamasawa, Naomi, Fitzpatrick, David, Li, Wei, Zeitz, Christina, Hauswirth, William, Martemyanov, Kirill A.
Published in Proceedings of the National Academy of Sciences - PNAS (22.09.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (22.09.2020)
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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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LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells
Neuillé, Marion, Cao, Yan, Caplette, Romain, Guerrero-Given, Debbie, Thomas, Connon, Kamasawa, Naomi, Sahel, José-Alain, Hamel, Christian P, Audo, Isabelle, Picaud, Serge, Martemyanov, Kirill A, Zeitz, Christina
Published in Investigative ophthalmology & visual science (01.03.2017)
Published in Investigative ophthalmology & visual science (01.03.2017)
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The research output of rod-cone dystrophy genetics
Jaffal, Lama, Mrad, Zamzam, Ibrahim, Mariam, Salami, Ali, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
Published in Orphanet journal of rare diseases (23.04.2022)
Published in Orphanet journal of rare diseases (23.04.2022)
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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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Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Wilmet, Baptiste, Callebert, Jacques, Duvoisin, Robert, Goulet, Ruben, Tourain, Christophe, Michiels, Christelle, Frederiksen, Helen, Schaeffel, Frank, Marre, Olivier, Sahel, José Alain, Audo, Isabelle, Picaud, Serge, Zeitz, Christina
Published in International journal of molecular sciences (22.12.2022)
Published in International journal of molecular sciences (22.12.2022)
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Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9
Ben yacoub, Tasnim, Letellier, Camille, Wohlschelegel, Juliette, Condroyer, Christel, Slembrouck-Brec, Amélie, Goureau, Olivier, Zeitz, Christina, Audo, Isabelle
Published in Stem cell research (01.09.2023)
Published in Stem cell research (01.09.2023)
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Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines
Amprou, Andréa, Yacoub, Tasnim Ben, Letellier, Camille, Degaetano, Vincenzo, Méjécase, Cécile, Pormehr, Leila Azizzadeh, Condroyer, Christel, Slembrouck-Brec, Amélie, Wohlschlegel, Juliette, Goureau, Olivier, Zeitz, Christina, Audo, Isabelle
Published in Stem cell research (01.12.2024)
Published in Stem cell research (01.12.2024)
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Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy
Smirnov, Vasily M, Wilmet, Baptiste, Nassisi, Marco, Condroyer, Christel, Antonio, Aline, Andrieu, Camille, Devisme, Céline, Sancho, Serge, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (13.06.2022)
Published in International journal of molecular sciences (13.06.2022)
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Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
Nassisi, Marco, Lavia, Carlo, Mohand-Said, Saddek, Smirnov, Vasily, Antonio, Aline, Condroyer, Christel, Sancho, Serge, Varin, Juliette, Gaudric, Alain, Zeitz, Christina, Sahel, José-Alain, Audo, Isabelle
Published in Scientific reports (04.02.2021)
Published in Scientific reports (04.02.2021)
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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease
Nassisi, Marco, Mohand-Saïd, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Méjécase, Cécile, Varin, Juliette, Wohlschlegel, Juliette, Dhaenens, Claire-Marie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (11.10.2019)
Published in International journal of molecular sciences (11.10.2019)
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Boulanger-Scemama, Elise, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Souied, Eric, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in Orphanet journal of rare diseases (24.06.2015)
Published in Orphanet journal of rare diseases (24.06.2015)
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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations
AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror
Published in Scientific reports (19.08.2019)
Published in Scientific reports (19.08.2019)
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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Boulanger-Scemama, Elise, Mohand-Saïd, Saddek, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (30.09.2019)
Published in International journal of molecular sciences (30.09.2019)
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Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy
Varin, Juliette, Reynolds, Margaret M, Bouzidi, Nassima, Tick, Sarah, Wohlschlegel, Juliette, Becquart, Ondine, Michiels, Christelle, Dereure, Olivier, Duvoisin, Robert M, Morgans, Catherine W, Sahel, José-Alain, Samaran, Quentin, Guillot, Bernard, Pulido, José S, Audo, Isabelle, Zeitz, Christina
Published in PloS one (23.04.2020)
Published in PloS one (23.04.2020)
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Journal Article
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
Orhan, Elise, Neuillé, Marion, de Sousa Dias, Miguel, Pugliese, Thomas, Michiels, Christelle, Condroyer, Christel, Antonio, Aline, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Published in International journal of molecular sciences (01.05.2021)
Published in International journal of molecular sciences (01.05.2021)
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