178 results on '"Obolensky, Alexey"'
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2. Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa
3. Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant
4. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
5. Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism
6. A new mouse model for retinal degeneration due to Fam161a deficiency
7. Genetic and Clinical Analyses of the KIZ -c.226C>T Variant Resulting in a Dual Mutational Mechanism.
8. Can an in vivo imaging system be used to determine localization and biodistribution of AAV5-mediated gene expression following subretinal and intravitreal delivery in mice?
9. Immunological Properties of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells
10. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
11. Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects
12. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
13. Naturally-occurring myopia and loss of cone function in a sheep model of achromatopsia
14. Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations
15. Consecutive unilateral recording of the two eyes affects dark-adapted ERG responses, when compared to simultaneous bilateral recording
16. Survival of Neural Progenitors Derived from Human Embryonic Stem Cells Following Subretinal Transplantation in Rodents
17. Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice
18. Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia
19. Ocular Phenotype Analysis of a Family With Biallelic Mutations in the BEST1 Gene
20. Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161aretinitis pigmentosa
21. Zinc–desferrioxamine attenuates retinal degeneration in the rd10 mouse model of retinitis pigmentosa
22. Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation
23. A novel day blindness in sheep: Epidemiological, behavioural, electrophysiological and histopathological studies
24. Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
25. Directed Differentiation of Human Embryonic Stem Cells into Functional Retinal Pigment Epithelium Cells
26. Ischemic preconditioning of the rat retina: Protective role of ferritin
27. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa
28. Evaluation of Photoreceptor Transduction Efficacy of Capsid-Modified Adeno-Associated Viral Vectors Following Intravitreal and Subretinal Delivery in Sheep
29. Novel USH2A Mutations in Israeli Patients With Retinitis Pigmentosa and Usher Syndrome Type 2
30. Retinal Function Abnormalities in Patients Treated With Vigabatrin
31. Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
32. Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
33. Six Years and Counting: Restoration of Photopic Retinal Function and Visual Behavior Following Gene Augmentation Therapy in a Sheep Model of CNGA3 Achromatopsia
34. Contrary to popular belief, chinchillas do not have a pure rod retina
35. Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep
36. Characterization of physiological defects in adult SIRT6-/- mice
37. Course of Sodium Iodate–Induced Retinal Degeneration in Albino and Pigmented Mice
38. Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep
39. Contrary to popular belief, chinchillas do not have a pure rod retina.
40. Retinal Phenotype following Combined Deletion of the Chemokine Receptor CCR2 and the Chemokine CX3CL1 in Mice
41. A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
42. Characterization of physiological defects in adult SIRT6-/- mice.
43. Degeneration Modulates Retinal Response to Transient Exogenous Oxidative Injury
44. Retinal Phenotype following Combined Deletion of the Chemokine Receptor CCR2 and the Chemokine CX3CL1 in Mice.
45. Retinal Function and Structure in the Hypotransferrinemic Mouse
46. Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel
47. Effect of Para-Aminobenzoic Acid on the Course of Retinal Degeneration in the rd10 Mouse
48. A Pilot Study of Topical Treatment with an alpha2-agonist in Patients with Retinal Dystrophies
49. Homozygosity for a NovelABCA4Founder Splicing Mutation Is Associated with Progressive and Severe Stargardt-like Disease
50. Retinal Incorporation and Differentiation of Neural Precursors Derived from Human Embryonic Stem Cells
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