Results 111 to 120 of about 429,850 (164)

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. [PDF]

PLoS One, 2022
Donato L, Alibrandi S, Scimone C, Rinaldi C, Dascola A, Calamuneri A, D'Angelo R, Sidoti A.   +7 more
europepmc   +1 more source

Electrophysiology for ophthalmologist (A practical approach)

Journal of Clinical Ophthalmology and Research, 2013
The article deals with the basic understanding of electrophysiological tests in clinical practice. Electrophysiological tests involves assessing the function of the rod-cone system and proximal visual pathway.
Deepak Bhatt
doaj  

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2022
Wang J, Wang Y, Li S, Xiao X, Yi Z, Jiang Y, Li X, Jia X, Wang P, Jin C, Sun W, Zhang Q.   +11 more
europepmc   +1 more source

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. [PDF]

Invest Ophthalmol Vis Sci, 2022
Martin-Gutierrez MP, Schiff ER, Wright G, Waseem N, Mahroo OA, Michaelides M, Moore AT, Webster AR, Arno G, Genomics England Research Consortium.   +9 more
europepmc   +1 more source

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. [PDF]

Int J Mol Sci, 2021
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM.   +19 more
europepmc   +1 more source

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

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

Clinical Validation of a CRX Variant Leading to a Cone-Rod Dystrophy. [PDF]

Cureus
Pagán-Melvin C, Izquierdo N, Alejandro KC.   +2 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