Results 181 to 190 of about 12,927 (274)

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy. [PDF]

Mol Genet Genomic Med
Lee H, Moon D, Khang R, Seo GH, Yoon CK, Park UC, Park KH, Lee EK.   +7 more
europepmc   +1 more source

Correction to: "Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors". [PDF]

Hum Mol Genet, 2023
europepmc   +1 more source

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort. [PDF]

J Ophthalmol, 2021
Mao Y, Long Y, Liu B, Cao Q, Li Y, Li S, Wang G, Meng X, Li S.   +8 more
europepmc   +1 more source

Crx-L253X mutation produces dominant photoreceptor defects in TVRM65 mice [PDF]

, 2017
Chen, Shiming, Hennig, Anne K, Linne, Courtney D, Ruzycki, Philip A   +3 more
core   +2 more sources

Deletion of Fatty Acid Transport Protein 4 Rescues the Visual Cycle and Function of Rod Photoreceptors in the R91W Mouse Model of Leber Congenital Amaurosis

, 2018
Songhua Li, Minghao Jin
openalex   +1 more source

Leber′s congenital amaurosis with nephropathy.

Indian Journal of Ophthalmology, 1994
Sharma K, Sharma Raj, Elhence R, Gulati S, Kher V   +4 more
doaj  

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

, 2017
Razek Georges Coussa, Irma Lopez Solache, Robert K. Koenekoop   +2 more
openalex   +2 more sources

Human cone photoreceptor transplantation stimulates remodeling and restores function in AIPL1 model of end-stage Leber congenital amaurosis. [PDF]

Stem Cell Reports
Procyk CA, Melati A, Ribeiro J, Liu J, Branch MJ, Delicata JD, Tariq M, Kalarygrou AA, Kapadia J, Khorsani MM, West EL, Smith AJ, Gonzalez-Cordero A, Ali RR, Pearson RA.   +14 more
europepmc   +1 more source

Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol
Zhou Y, Huang L, Xie Y, Liu W, Zhang S, Liu L, Lin P, Li N.   +7 more
europepmc   +1 more source

Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes. [PDF]

Genes (Basel)
Akhtar Z, Altaf S, Li Y, Bibi S, Shah J, Afshan K, Wang M, Hussain HMJ, Qureshi N, Chen R, Firasat S.   +10 more
europepmc   +1 more source