Results 141 to 150 of about 9,513 (213)

A Novel <i>GUCY2D</i> Frameshift Deletion Identified in a Patient with Leber Congenital Amaurosis 1: A Case Report. [PDF]

Case Rep Ophthalmol
Zheng X, Gao Y, Wei T, Zhu L, Wang T, Wang B, Chen C, Liu Y, Yu Y.   +8 more
europepmc   +1 more source

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

Leber′s congenital amaurosis with nephropathy.

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

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

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

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

A novel <i>RPE65</i> variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan. [PDF]

Front Med (Lausanne)
Higa N, Hayashi T, Mizobuchi K, Iwasa M, Kubota S, Kuniyoshi K, Kameya S, Kondo H, Kondo M, Nakano T.   +9 more
europepmc   +1 more source

Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance. [PDF]

Commun Biol
Suga A, Minegishi Y, Yamamoto M, Ueda K, Iwata T.   +4 more
europepmc   +1 more source