about
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessMutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindnessDisease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotypeMutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesMissense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaSpectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosaQRX, a novel homeobox gene, modulates photoreceptor gene expressionExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaThe nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationCNGA3 mutations in hereditary cone photoreceptor disordersProtein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosaTreatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialEvaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaA missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsRetinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyHuman RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 yearCanine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerationsCrumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationMutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degenerationDe novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisMutations in the PDE6B gene in autosomal recessive retinitis pigmentosaHuman rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosaCentrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosisCharacterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degenerationThe Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012Predicting the pathogenicity of RPE65 mutations.Human cone photoreceptor dependence on RPE65 isomeraseRetinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathyMacular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosaPupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
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Samuel G. Jacobson
@sl
P108
P106
P1153
7402234497
P21
P31
P496
0000-0003-2122-169X