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

بواسطة Cremers, Frans P. M., Boon, Camiel J. F., Bujakowska, Kinga, Zeitz, Christina
الحاوية / القاعدة Genes (Basel) (2018)

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

بواسطة Zeitz, Christina, Méjécase, Cécile, Stévenard, Mathilde, Michiels, Christelle, Audo, Isabelle, Marmor, Michael F.
الحاوية / القاعدة Biomed Res Int (2018)

The genetics of rod-cone dystrophy in Arab countries: a systematic review

بواسطة Jaffal, Lama, Joumaa, Hawraa, Mrad, Zamzam, Zeitz, Christina, Audo, Isabelle, El Shamieh, Said
الحاوية / القاعدة Eur J Hum Genet (2020)

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

بواسطة Kloeckener-Gruissem, Barbara, Vandekerckhove, Kristof, Nürnberg, Gudrun, Neidhardt, John, Zeitz, Christina, Nürnberg, Peter, Schipper, Isaak, Berger, Wolfgang
منشور في 2008

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

بواسطة Malaichamy, Sivasankar, Sen, Parveen, Sachidanandam, Ramya, Arokiasamy, Tharigopala, Lancelot, Marie Elise, Audo, Isabelle, Zeitz, Christina, Soumittra, Nagasamy
منشور في 2014

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

بواسطة Dias, Miguel de Sousa, Hamel, Christian P., Meunier, Isabelle, Varin, Juliette, Blanchard, Steven, Boyard, Fiona, Sahel, José-Alain, Zeitz, Christina
الحاوية / القاعدة Mol Vis (2017)

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

بواسطة Jaffal, Lama, Joumaa, Wissam H, Assi, Alexandre, Helou, Charles, Cherfan, George, Zibara, Kazem, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
الحاوية / القاعدة 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

بواسطة Nassisi, Marco, Audo, Isabelle, Zeitz, Christina, Varin, Juliette, Wohlschlegel, Juliette, Smirnov, Vasily, Santiard-Baron, Dominique, Picaud, Serge, Sahel, José-Alain
الحاوية / القاعدة Eye (Lond) (2020)

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

بواسطة Kikuchi, Sachiko, Kameya, Shuhei, Gocho, Kiyoko, El Shamieh, Said, Akeo, Keiichiro, Sugawara, Yuko, Yamaki, Kunihiko, Zeitz, Christina, Audo, Isabelle, Takahashi, Hiroshi
الحاوية / القاعدة Biomed Res Int (2015)

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

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

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

بواسطة AlTalbishi, Alaa, Zelinger, Lina, Zeitz, Christina, Hendler, Karen, Namburi, Prasanthi, Audo, Isabelle, Sheffer, Ruth, Yahalom, Claudia, Khateb, Samer, Banin, Eyal, Sharon, Dror
الحاوية / القاعدة Sci Rep (2019)

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

بواسطة Orhan, Elise, Neuillé, Marion, de Sousa Dias, Miguel, Pugliese, Thomas, Michiels, Christelle, Condroyer, Christel, Antonio, Aline, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
الحاوية / القاعدة Int J Mol Sci (2021)

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

بواسطة Neuillé, Marion, Morgans, Catherine W., Cao, Yan, Orhan, Elise, Michiels, Christelle, Sahel, José-Alain, Audo, Isabelle, Duvoisin, Robert M., Martemyanov, Kirill A., Zeitz, Christina
الحاوية / القاعدة Eur J Neurosci (2015)

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

بواسطة Cao, Yan, Wang, Yuchen, Dunn, Henry A., Orlandi, Cesare, Shultz, Nicole, Kamasawa, Naomi, Fitzpatrick, David, Li, Wei, Zeitz, Christina, Hauswirth, William, Martemyanov, Kirill A.
الحاوية / القاعدة 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

بواسطة 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
منشور في 2010

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

بواسطة 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
الحاوية / القاعدة Genes (Basel) (2019)

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

بواسطة 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
الحاوية / القاعدة Invest Ophthalmol Vis Sci (2020)

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

بواسطة 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
الحاوية / القاعدة Sci Rep (2021)

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

بواسطة 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
الحاوية / القاعدة 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.

بواسطة 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
منشور في 2011