Results 151 to 160 of about 7,465 (249)

Creating an in vitro Leber congenital amaurosis model to investigate disease mechanisms

, 2020
Kathleen R. Chirco, Shereen Chew, Jacque L. Duncan, Anthony T. Moore, Deepak A. Lamba   +4 more
openalex   +1 more source

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review. [PDF]

BMC Med Genomics, 2022
Duan W, Zhou T, Jiang H, Zhang M, Hu M, Zhang L.   +5 more
europepmc   +1 more source

Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.

, 2018
Christin Hanke‐Gogokhia, Vince A. Chiodo, William W. Hauswirth, Jeanne M. Frederick, Wolfgang Baehr   +4 more
openalex   +1 more source

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 [PDF]

, 2016
Zachry T. Soens, Yuanyuan Li, Li Zhao, Aiden Eblimit, Rachayata Dharmat, Yumei Li, Yiyun Chen, Mohammed Naqeeb, Norma Fajardo, Irma López, Zhaoxia Sun, Robert K. Koenekoop, Rui Chen   +12 more
openalex   +1 more source

Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration

, 2016
Anneke I. den Hollander
openalex   +1 more source

Gene therapy trial lights the way for patients with Leber congenital amaurosis 1. [PDF]

Mol Ther
Chan YK.
europepmc   +1 more source

Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures. [PDF]

J Patient Rep Outcomes, 2023
Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F.   +12 more
europepmc   +1 more source

Functional assessment of AIPL1 variations identified in Leber Congenital Amaurosis patients

, 2017
Almudena Sacristán-Reviriego, James Bellingham, Chrisostomos Prodromou, Jacqueline van der Spuy   +3 more
openalex   +1 more source

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis [PDF]

, 2012
Sang‐Heon Cho, Jin Young Kim, David L. Simons, J. Y. Song, Janet Le, Eric C. Swindell, Milan Jamrich, S. M. Wu, Sung Soo Kim   +8 more
openalex   +1 more source

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center. [PDF]

Indian J Ophthalmol
Upadhyaya A, Padhy SK, Teja N, Chattannavar G, Dutta S, Pochaboina V, Balasubramanian J, Kannabiran C, Takkar B, Bhate M, Jalali S, Parameswarappa DC.   +11 more
europepmc   +1 more source