Results 161 to 170 of about 2,008 (179)

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry. [PDF]

NPJ Genom Med
Marta A, Marques-Couto P, Vaz-Pereira S, Costa J, Cabral D, Estrela-Silva S, Franca M, Marques JH, Menéres MJ, Lemos C, Melo Beirão J, Soares CA, Carvalho AL, Marques JP.   +13 more
europepmc   +1 more source

Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST). [PDF]

Invest Ophthalmol Vis Sci
Cideciyan AV, Neuhauser H, Roman AJ, Aleman TS.   +3 more
europepmc   +1 more source

Generating a Preclinical Model for PITPNM3 and Evaluating Genotype-Phenotype Concordance: Insights from a Mouse Model. [PDF]

Cells
Demirkol A, Li J, Tsang SH.
europepmc   +1 more source

Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa [PDF]

, 2005
Bergen, A.A.B., Booij, J.C., de Jong, P.T.V.M., Florijn, R.J., Loves, W., Meire, F., ten Brink, J.B., van Schooneveld, M.J.   +7 more
core  

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. [PDF]

BMC Ophthalmol
Munir A, Afsar S, Rehman AU.
europepmc   +1 more source

Mitochondrial fission genes MTFP1/MTFP2 as predictive biomarkers in prostate cancer: a mendelian randomization study. [PDF]

Discov Oncol
Huangfu X, Fan Z, Zheng J, Xie J.
europepmc   +1 more source

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Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation

Experimental Eye Research, 2021
Leber congenital amaurosis (LCA) is the most severe form of retinopathy and cone/cone-rod dystrophy (CORD) is a common form of inherited retinopathy. Variants in GUCY2D constitute the most common cause of LCA and autosomal dominant CORD (ADCORD). The purpose of this study was to reveal novel variants and document associated phenotypes of patients with ...
Zhen, Yi, Wenmin, Sun, Xueshan, Xiao, Shiqiang, Li, Xiaoyun, Jia, Xueqing, Li, Bilin, Yu, Panfeng, Wang, Qingjiong, Zhang   +8 more
openaire   +2 more sources