Keywords: Leber Amaurosis مادرزادی; AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat
مقالات ISI Leber Amaurosis مادرزادی (ترجمه نشده)
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Keywords: Leber Amaurosis مادرزادی; ADRP; autosomal dominant retinitis pigmentosa; ANOVA; analysis of variance; ER; endoplasmic reticulum; LCA; Leber congenital amaurosis; NNAT; neuronatin; OS; outer segment; P; postnatal day; PBS; phosphate-buffered saline; PNA; peanut agglutinin lectin; q
Keywords: Leber Amaurosis مادرزادی; Disease models; Induced pluripotent stem cells; Retinitis pigmentosa; Age related macular degeneration; Leber congenital amaurosis; Inherited retinopathy
Keywords: Leber Amaurosis مادرزادی; Retina; Expression; Cones; Rods; Photoreceptors; Mouse models; Vision; Disease; CORD; Cone-Rod Retinal Dystrophy; FDR; False Discovery Rate; GO; Gene Ontology; GSEA; Gene Set Enrichment Analysis; LCA; Leber Congenital Amaurosis; LGDM2C; Limb-Girdle Muscul
Keywords: Leber Amaurosis مادرزادی; Inherited retinal dystrophies; Retinitis pigmentosa; Macular dystrophy; Molecular screening; Leber congenital amaurosis; Vitelliform macular dystrophyDystrophies rétiniennes héréditaires; Rétinite pigmentaire; Dystrophie maculaire; Criblage moléculaire; A
Conditional loss of Kcnj13 in the retinal pigment epithelium causes photoreceptor degeneration
Keywords: Leber Amaurosis مادرزادی; Leber congenital amaurosis; KCNJ13; Kir7.1; Photoreceptors; Retinal degeneration; Conditional knockout; RPE; Retinal function;
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
Keywords: Leber Amaurosis مادرزادی; CFP; color fundus photography; ERG; electroretinogram; EOSRD; early-onset severe retinal dystrophy; FAF; fundus autofluorescence; LCA; Leber congenital amaurosis; PERG; pattern electroretinogram; SD; standard deviation; VA; visual acuity;
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice
Keywords: Leber Amaurosis مادرزادی; Retinitis Pigmentosa; Leber Congenital Amaurosis; SPATA7; Photoreceptors; Retinal degeneration; Conditional knockout; RPE; Retinal function;
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
Keywords: Leber Amaurosis مادرزادی; Cyclic GMP; Genotype-phenotype correlation; Guanylate cyclase; GUCY2D; Mutation; Photoreceptor; Retinal diseases; AAV; adeno-associated virus; ad; autosomal dominant; ar; autosomal recessive; BSP; bone spicule-like pigmentation; CCD; cyclase catalytic dom
AIPL1: A specialized chaperone for the phototransduction effector
Keywords: Leber Amaurosis مادرزادی; AIPL1; aryl hydrocarbon receptor-interacting protein-like 1; PDE6; photoreceptor phosphodiesterase-6; AIP; aryl hydrocarbon receptor-interacting protein; LCA; Leber congenital amaurosis; FKBP; FK506-binding proteins; TPR; tetratricopeptide repeat; PDE6D;
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Keywords: Leber Amaurosis مادرزادی; arRP; autosomal recessive retinitis pigmentosa; CME; cystoid macular edema; IRD; inherited retinal disease; LCA; Leber congenital amaurosis; NAD; nicotinamide adenine dinucleotide; OCT; optical coherence tomography; RP; retinitis pigmentosa; RPE; retinal
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies
Keywords: Leber Amaurosis مادرزادی; BCVA; best-corrected visual acuity; CFC; cystoid fluid collection; CRT; central retinal thickness; ELM; external limiting membrane; EZ; ellipsoid zone; FAF; fundus autofluorescence; ffERG; full-field electroretinography; GI; genetic isolate; GVF; Goldmann
Mechanisms of mutant PDE6 proteins underlying retinal diseases
Keywords: Leber Amaurosis مادرزادی; PDE6; photoreceptor phosphodiesterase-6; AIPL1; aryl hydrocarbon receptor-interacting protein-like 1; LCA; Leber congenital amaurosis; FKBP; FK506-binding proteins; TPR; tetratricopeptide repeat; GAF; domains named for their presence in cGMP-regulated PDE
Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial
Keywords: Leber Amaurosis مادرزادی; AE; adverse event; LCA; Leber Congenital Amaurosis; logMAR; logarithm of the minimum angle of resolution; RP; retinitis pigmentosa; SAE; serious adverse event;
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands
Keywords: Leber Amaurosis مادرزادی; Frequency; Leber congenital amaurosis; Mutation; Whole exome sequencing; Sanger sequencing;
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy
Keywords: Leber Amaurosis مادرزادی; AAV; adeno-associated virus; BCVA; best-corrected visual acuity; dB-sr; decibel-steradian; ETDRS; Early Treatment Diabetic Retinopathy Study; ERG; electroretinogram; LCA; Leber congenital amaurosis; logMAR; logarithm of the minimum angle of resolution; O
Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa
Keywords: Leber Amaurosis مادرزادی; Nanoparticle; Span; Gene therapy; Ophthalmology; Retinitis pigmentosa; AAV; adeno-associated viral; AAV2; adeno-associated viral vectors serotype 2; adRP; autosomal dominant retinitis pigmentosa; ANOVA; analysis of variance; c/d; cycles/degree; DAPI; 4â²
Bardet-Biedl syndrome: A model for translational research in rare diseases
Keywords: Leber Amaurosis مادرزادی; AAV; adeno-associated vector; ADPKD; autosomal dominant polycystic kidney disease; BBS; Bardet-Biedl Syndrome; CDE; common data element; CRIBBS; Clinical Registry Investigating Bardet-Biedl Syndrome; DDAVP; desmopressin acetate; GRDR®; Global Rare Di
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65Â kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial
Keywords: Leber Amaurosis مادرزادی; Best1; Bestrophin1; bFGF; basic fibroblast growth factor; DMEM; Dulbecco's Modified Eagle Medium; DNMT; DNA methyltransferases; ERG; Electroretinography; KLF4; Kruppel-like factor 4; LB; Lysogeny broth; LCA; Leber congenital amaurosis; MEM; minimum essent
Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype
Keywords: Leber Amaurosis مادرزادی; CME; cystoid macular edema; ERG; electroretinogram; FAF; fundus autofluorescence; LCA; Leber congenital amaurosis; MP-1; microperimetry 1; MUPP1; multi-PDZ domain protein-1; RP; retinitis pigmentosa; RPE; retinal pigment epithelium; SD-OCT; spectral-domai
The CRB1 and adherens junction complex proteins in retinal development and maintenance
Keywords: Leber Amaurosis مادرزادی; Neuroepithelium; Retina; Apical protein complexes; CRB1 complex; Retinitis pigmentosa; Leber congenital amaurosis
Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity
Keywords: Leber Amaurosis مادرزادی; A; Adenine; ad-RP; Autosomal dominant RP; DNA; Deoxyribonucleic acid; ERG; electroretinogram; FAG; fluorescein retinal angiography; ISCEV; International Society for Clinical Electrophysiology of Vision; LCA; Leber congenital amaurosis; OCT; Optical cohere
Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65
Keywords: Leber Amaurosis مادرزادی; Ad-RPE65, adenovirus expressing RPE65; LCA, Leber congenital amaurosis; MOI, multiplicity of infection; RPE, retinal pigment epithelium; CHX, cycloheximideRPE65; Visual cycle; Isomerohydrolase; Leber congenital amaurosis; Retinoids
Première observation maghrébine d'amaurose congénitale de Leber secondaire à une mutation du gène CEP290
Keywords: Leber Amaurosis مادرزادی; Amaurose congénitale de Leber; NPHP6; CEP290; LCA10; Première mutation Maghrébine dans le gène CEP290; Leber congenital amaurosis; NPHP6; CEP290; LCA10; First North African mutation in CEP290 gene;
Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd)
Keywords: Leber Amaurosis مادرزادی; Retinal degeneration; Leber Congenital Amaurosis; STK38L; Animal model
Anatomical changes in the primary visual cortex of the congenitally blind Crxâ/â mouse
Keywords: Leber Amaurosis مادرزادی; retinal dystrophy; photoreceptor; neurofilament; calcium-binding proteins; visual development; mutant; Crx; cone-rod homeobox gene; LCA; Leber congenital amaurosis; LGN; lateral geniculate nucleus; NeuN; neuronal nuclei specific protein; NNF; nonphosphory
Naturally occurring animal models with outer retina phenotypes
Keywords: Leber Amaurosis مادرزادی; Vertebrate animal models for retinal degeneration; Rod and cone photoreceptors; Retinoid cycle; Leber congenital amaurosis; Retinitis pigmentosa; Cone/rod dystrophy
Retinal degeneration in children: Dark adapted visual threshold and arteriolar diameter
Keywords: Leber Amaurosis مادرزادی; Bardet-Biedl syndrome; Leber congenital amaurosis; Usher syndrome; Dark adapted threshold; Retinal vasculature; Retinal degeneration; Rod mediated visual sensitivity
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Keywords: Leber Amaurosis مادرزادی; Animal models; Connecting cilium; Leber congenital amaurosis; Photoreceptors; Retina; Visual cycle; aa; amino acid; ACHM; achromatopsia; ad; autosomal dominant; ar; autosomal recessive; CSNB; congenital stationary night blindness; ERG; electroretinogram;
Canine RPGRIP1 mutation establishes cone–rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis
Keywords: Leber Amaurosis مادرزادی; Leber congenital amaurosis; RPGRIP1; Cone–rod dystrophy; Canine
Amaurose congénitale de Leber : le point sur l'hétérogénéité génétique, actualisation de la définition clinique
Keywords: Leber Amaurosis مادرزادی; Amaurose congénitale de Leber; rétine; photorécepteurs; épithélium pigmentaire de la rétine; cécité; conseil génétique; Leber congenital amaurosis; retina; photoreceptors; retinal pigment epithelium; blindness; genetic counseling;
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
Keywords: Leber Amaurosis مادرزادی; cone; Leber congenital amaurosis; perimetry; retinitis pigmentosa; rod;