Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations, and Inheritance Models

Por Cremers, Frans P. M., Boon, Camiel J. F., Bujakowska, Kinga, Zeitz, Christina
Publicado no Genes (Basel) (2018)

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Por Zeitz, Christina, Méjécase, Cécile, Stévenard, Mathilde, Michiels, Christelle, Audo, Isabelle, Marmor, Michael F.
Publicado no Biomed Res Int (2018)

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Por Kloeckener-Gruissem, Barbara, Vandekerckhove, Kristof, Nürnberg, Gudrun, Neidhardt, John, Zeitz, Christina, Nürnberg, Peter, Schipper, Isaak, Berger, Wolfgang
Publicado em 2008

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

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

Por Dias, Miguel de Sousa, Hamel, Christian P., Meunier, Isabelle, Varin, Juliette, Blanchard, Steven, Boyard, Fiona, Sahel, José-Alain, Zeitz, Christina
Publicado no Mol Vis (2017)

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

Por Jaffal, Lama, Joumaa, Wissam H, Assi, Alexandre, Helou, Charles, Cherfan, George, Zibara, Kazem, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
Publicado no Genes (Basel) (2019)

Impact of the COVID-19 lockdown on basic science research in ophthalmology: the experience of a highly specialized research facility in France

Por Nassisi, Marco, Audo, Isabelle, Zeitz, Christina, Varin, Juliette, Wohlschlegel, Juliette, Smirnov, Vasily, Santiard-Baron, Dominique, Picaud, Serge, Sahel, José-Alain
Publicado no Eye (Lond) (2020)

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

Por Kikuchi, Sachiko, Kameya, Shuhei, Gocho, Kiyoko, El Shamieh, Said, Akeo, Keiichiro, Sugawara, Yuko, Yamaki, Kunihiko, Zeitz, Christina, Audo, Isabelle, Takahashi, Hiroshi
Publicado no Biomed Res Int (2015)

Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy

Por Wycisk, Katharina Agnes, Zeitz, Christina, Feil, Silke, Wittmer, Mariana, Forster, Ursula, Neidhardt, John, Wissinger, Bernd, Zrenner, Eberhart, Wilke, Robert, Kohl, Susanne, Berger, Wolfgang
Publicado em 2006

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Por AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror
Publicado no Sci Rep (2019)

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation

Por Neuillé, Marion, Morgans, Catherine W., Cao, Yan, Orhan, Elise, Michiels, Christelle, Sahel, José-Alain, Audo, Isabelle, Duvoisin, Robert M., Martemyanov, Kirill A., Zeitz, Christina
Publicado no Eur J Neurosci (2015)

Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors

Por Cao, Yan, Wang, Yuchen, Dunn, Henry A., Orlandi, Cesare, Shultz, Nicole, Kamasawa, Naomi, Fitzpatrick, David, Li, Wei, Zeitz, Christina, Hauswirth, William, Martemyanov, Kirill A.
Publicado no Proc Natl Acad Sci U S A (2020)

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

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

Por Jaffal, Lama, Joumaa, Wissam H., Assi, Alexandre, Helou, Charles, Condroyer, Christel, El Dor, Maya, Cherfan, Georges, Zeitz, Christina, Audo, Isabelle, Zibara, Kazem, El Shamieh, Said
Publicado no Genes (Basel) (2019)

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Por Di Iorio, Valentina, Karali, Marianthi, Melillo, Paolo, Testa, Francesco, Brunetti-Pierri, Raffaella, Musacchia, Francesco, Condroyer, Christel, Neidhardt, John, Audo, Isabelle, Zeitz, Christina, Banfi, Sandro, Simonelli, Francesca
Publicado no Invest Ophthalmol Vis Sci (2020)

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

Por 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
Publicado no Sci Rep (2021)

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness

Por Varin, Juliette, Bouzidi, Nassima, Dias, Miguel Miranda De Sousa, Pugliese, Thomas, Michiels, Christelle, Robert, Camille, Desrosiers, Melissa, Sahel, José-Alain, Audo, Isabelle, Dalkara, Deniz, Zeitz, Christina
Publicado no Invest Ophthalmol Vis Sci (2021)

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

Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model

Por Orhan, Elise, Dalkara, Deniz, Neuillé, Marion, Lechauve, Christophe, Michiels, Christelle, Picaud, Serge, Léveillard, Thierry, Sahel, José-Alain, Naash, Muna I., Lavail, Matthew M., Zeitz, Christina, Audo, Isabelle
Publicado no PLoS One (2015)