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

Yazar: Cremers, Frans P. M., Boon, Camiel J. F., Bujakowska, Kinga, Zeitz, Christina
Yayımlandı Genes (Basel) (2018)

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

Yazar: Zeitz, Christina, Méjécase, Cécile, Stévenard, Mathilde, Michiels, Christelle, Audo, Isabelle, Marmor, Michael F.
Yayımlandı Biomed Res Int (2018)

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

Yazar: Jaffal, Lama, Joumaa, Hawraa, Mrad, Zamzam, Zeitz, Christina, Audo, Isabelle, El Shamieh, Said
Yayımlandı Eur J Hum Genet (2020)

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

Yazar: Kloeckener-Gruissem, Barbara, Vandekerckhove, Kristof, Nürnberg, Gudrun, Neidhardt, John, Zeitz, Christina, Nürnberg, Peter, Schipper, Isaak, Berger, Wolfgang
Baskı/Yayın Bilgisi 2008

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

Yazar: Malaichamy, Sivasankar, Sen, Parveen, Sachidanandam, Ramya, Arokiasamy, Tharigopala, Lancelot, Marie Elise, Audo, Isabelle, Zeitz, Christina, Soumittra, Nagasamy
Baskı/Yayın Bilgisi 2014

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

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

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

Yazar: Jaffal, Lama, Joumaa, Wissam H, Assi, Alexandre, Helou, Charles, Cherfan, George, Zibara, Kazem, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
Yayımlandı 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

Yazar: Nassisi, Marco, Audo, Isabelle, Zeitz, Christina, Varin, Juliette, Wohlschlegel, Juliette, Smirnov, Vasily, Santiard-Baron, Dominique, Picaud, Serge, Sahel, José-Alain
Yayımlandı Eye (Lond) (2020)

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

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

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

Yazar: Wycisk, Katharina Agnes, Zeitz, Christina, Feil, Silke, Wittmer, Mariana, Forster, Ursula, Neidhardt, John, Wissinger, Bernd, Zrenner, Eberhart, Wilke, Robert, Kohl, Susanne, Berger, Wolfgang
Baskı/Yayın Bilgisi 2006

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

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

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

Yazar: Orhan, Elise, Neuillé, Marion, de Sousa Dias, Miguel, Pugliese, Thomas, Michiels, Christelle, Condroyer, Christel, Antonio, Aline, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Yayımlandı 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

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

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

Yazar: Cao, Yan, Wang, Yuchen, Dunn, Henry A., Orlandi, Cesare, Shultz, Nicole, Kamasawa, Naomi, Fitzpatrick, David, Li, Wei, Zeitz, Christina, Hauswirth, William, Martemyanov, Kirill A.
Yayımlandı 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

Yazar: 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
Baskı/Yayın Bilgisi 2010

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

Yazar: 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
Yayımlandı Genes (Basel) (2019)

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

Yazar: 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
Yayımlandı Invest Ophthalmol Vis Sci (2020)

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

Yazar: 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
Yayımlandı Sci Rep (2021)

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

Yazar: 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
Yayımlandı 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.

Yazar: 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
Baskı/Yayın Bilgisi 2011