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Characterization of Retinal Structure in ATF6 -Associated Achromatopsia
Mastey, Rebecca R., Georgiou, Michalis, Langlo, Christopher S., Kalitzeos, Angelos, Patterson, Emily J., Kane, Thomas, Singh, Navjit, Vincent, Ajoy, Moore, Anthony T., Tsang, Stephen H., Lin, Jonathan H., Young, Marielle P., Hartnett, M. Elizabeth, Héon, Elise, Kohl, Susanne, Michaelides, Michel, Carroll, Joseph
Published in Investigative ophthalmology & visual science (01.06.2019)
Published in Investigative ophthalmology & visual science (01.06.2019)
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Journal Article
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M., Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, Audo, Isabelle
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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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
The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy
Michaelides, Michel, Gaillard, Marie-Claire, Escher, Pascal, Tiab, Leila, Bedell, Matthew, Borruat, François-Xavier, Barthelmes, Daniel, Carmona, Ruben, Zhang, Kang, White, Edward, McClements, Michelle, Robson, Anthony G., Holder, Graham E., Bradshaw, Keith, Hunt, David M., Webster, Andrew R., Moore, Anthony T., Schorderet, Daniel F., Munier, Francis L.
Published in Investigative ophthalmology & visual science (01.09.2010)
Published in Investigative ophthalmology & visual science (01.09.2010)
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Journal Article
Functional and structural modifications during retinal degeneration in the rd10 mouse
Barhoum, R., Martínez-Navarrete, G., Corrochano, S., Germain, F., Fernandez-Sanchez, L., de la Rosa, E.J., de la Villa, P., Cuenca, N.
Published in Neuroscience (26.08.2008)
Published in Neuroscience (26.08.2008)
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Journal Article
High-resolution Imaging in Male Germ Cell–Associated Kinase (MAK)-related Retinal Degeneration
Lew, Young Ju, Rinella, Nicholas, Qin, Jia, Chiang, Joanna, Moore, Anthony T., Porco, Travis C., Roorda, Austin, Duncan, Jacque L.
Published in American journal of ophthalmology (01.01.2018)
Published in American journal of ophthalmology (01.01.2018)
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Journal Article
Cone-Rod Dysfunction Is a Sign of Early-Onset High Myopia
Wang, Panfeng, Xiao, Xueshan, Huang, Li, Guo, Xiangming, Zhang, Qingjiong
Published in Optometry and vision science (01.11.2013)
Published in Optometry and vision science (01.11.2013)
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Journal Article
Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone–rod dystrophy
Yokochi, Midori, Li, Danjie, Horiguchi, Masayuki, Kishi, Shoji
Published in Documenta ophthalmologica (01.12.2012)
Published in Documenta ophthalmologica (01.12.2012)
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Journal Article