Showing results (61-70 of 80) with videos related to
Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.Investigative Ophthalmology & Visual Science|February 11, 2015
Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano SymposiumDebra A Thompson, Robin R Ali, Eyal Banin, et al.Human Mutation|March 10, 2022
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A studyRobert B Hufnagel, Wendi Liang, Jacque L Duncan, et al.Nature Communications|July 5, 2020
Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and diseaseThomas A Ray, Kelly Cochran, Chris Kozlowski, et al.Translational Vision Science & Technology|November 2, 2020
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at BaselineDavid G Birch, Peiyao Cheng, Jacque L Duncan, et al.Plos One|December 31, 2015
Circulating Autoantibodies in Age-Related Macular Degeneration Recognize Human Macular Tissue Antigens Implicated in Autophagy, Immunomodulation, and Protection from Oxidative Stress and ApoptosisAlessandro Iannaccone, Francesco Giorgianni, David D New, et al.American Journal of Human Genetics|May 7, 2002
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer, Beverly M Yashar, Elena Filippova, et al.Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, et al.American Journal of Ophthalmology|May 25, 2020
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease SeverityJacque L Duncan, Wendi Liang, Maureen G Maguire, et al.American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.Pageof 8