Results 111 to 120 of about 15,202 (200)

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. [PDF]

Ophthalmic Genet, 2022
Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH, Lee H, Liu L, Wu WC, Tsai SH, Wang NK.   +12 more
europepmc   +1 more source

Correlation between fundus autofluorescence and visual function in patients with cone-rod dystrophy. [PDF]

Sci Rep, 2021
Kanda S, Hara T, Fujino R, Azuma K, Soga H, Asaoka R, Obata R, Inoue T.   +7 more
europepmc   +1 more source

Retinal de novo lipogenesis coordinates neurotrophic signaling to maintain vision [PDF]

, 2018
Adak, Sangeeta, Chen, Shiming, Doggett, Teresa, Enright, Jennifer, Hsu, Fong-Fu, Ling, Guoyu, Rajagopal, Rithwick, Semenkovich, Clay F, Shah, Vaishali, Wei, Xiaochao, Yoshino, Jun, Zhang, Sheng   +11 more
core   +2 more sources

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. [PDF]

Mol Vis, 2021
Zou X, Yao F, Li F, Wu S, Li H, Sun Z, Zhu T, Wei X, Li D, Sui R.   +9 more
europepmc   +1 more source

Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina. [PDF]

Transl Vis Sci Technol, 2021
Wang Y, Li X, Yu Y, Liang J, Liu Y, Chen Y, Bai X, Chen J, Wang F, Luo X, Sun X.   +10 more
europepmc   +1 more source

Cone rod dystrophy [PDF]

, 2020
openaire   +1 more source

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period [PDF]

, 2017
Bedford, Bender, Busse, Downs, Falconer, Gelatt, Gresky, Henderson, Mellersh, Mellersh, Mellersh, Mellersh, Mellersh, Miyadera, Miyadera, Muller, Muller, Muller, Muller, Müller, Palanova, Roberts, Ropstad, Ropstad, Stades, Turney, Wiik, Wiik, Zigler, Zigler   +29 more
core   +2 more sources

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss. [PDF]

Front Cell Dev Biol, 2021
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E.   +21 more
europepmc   +1 more source

Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy. [PDF]

Transl Vis Sci Technol, 2020
Park JC, Collison FT, Fishman GA, McAnany JJ.   +3 more
europepmc   +1 more source

Mizuo‐Nakamura phenomenon in cone‐rod dystrophy [PDF]

Clinical and Experimental Optometry, 2017
Vinod, Kumar, Neha, Goel, Ullattil K, Bhaskaran, Itika, Garg   +3 more
openaire   +2 more sources