Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
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NMNAT1 mutations cause Leber congenital amaurosisThe human visual cortex responds to gene therapy-mediated recovery of retinal functionAAV-mediated gene therapy in mouse models of recessive retinal degenerationDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseComprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in DenmarkExome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisA novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitroGenetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesExtended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.Predicting the pathogenicity of RPE65 mutations.A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomalyThe N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.The clinical evaluation of infantile nystagmus: What to do first and why.Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).GPR143 mutations in Chinese patients with ocular albinism type 1.Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.Which Leber congenital amaurosis patients are eligible for gene therapy trials?Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyDeducing the pathogenic contribution of recessive ABCA4 alleles in an outbred populationAdvantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosisThe Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor ciliumEvaluation of lateral spread of transgene expression following subretinal AAV-mediated gene delivery in dogsGenetic diagnostic methods for inherited eye diseases.Spotlight on childhood blindness.Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.Review and update on the molecular basis of Leber congenital amaurosisImpaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs)Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab familyResidual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1iTRAQ-Based Proteomic Analysis of Visual Cycle-Associated Proteins in RPE of rd12 Mice before and after RPE65 Gene Delivery.Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature.Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
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P2860
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
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2007 nî lūn-bûn
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2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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type
label
Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
@en
Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
@nl
prefLabel
Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
@nl
P3181
P1476
Leber congenital amaurosis - a ...... dward Jackson Memorial Lecture
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P304
P3181
P356
10.1016/J.AJO.2007.08.022
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P577
2007-12-01T00:00:00Z