221 results on '"MacDonald, Ian M."'
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2. Breaking bad news in ophthalmology: a pilot skills workshop for residents
3. Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations.
4. Zebrafish and inherited photoreceptor disease: Models and insights
5. Macular spatial distribution of preserved autofluorescence in patients with choroideremia
6. The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
7. Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.
8. Long anterior lens zonules in late-onset retinal degeneration
9. Choroideremia
10. Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation
11. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
12. Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.
13. Breaking bad news in ophthalmology: a pilot skills workshop for residents
14. Choroideremia
15. Recognizing and Mitigating Risk of Ophthalmic Regional Anesthesia
16. Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel
17. AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy
18. AA and DHA are decreased in paediatric AD/HD and inattention is ameliorated by increased plasma DHA
19. RETINAL PHENOTYPE IN A CASE OF LCHAD/TFP DEFICIENCY WITH LATE-STAGE DIAGNOSIS
20. Communicating the Promise for Ocular Gene Therapies: Challenges and Recommendations
21. Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness
22. THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA
23. Choroideremia
24. Reduction of Arachidonate Is Associated With Increase in B-Cell Activation Marker in Infants: A Randomized Trial
25. Lessons learned from research on choroideremia
26. AA and DHA are Decreased in Paediatric AD/HD And Inattention is Ameliorated by Increased Plasma DHA
27. Breaking Bad News in Eye Care
28. Wnt1-Cre mediated deletion of BMP7 suggests a role for neural crest-derived BMP7 in retina development and function
29. Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections
30. Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation
31. PEX6 Mutations in Peroxisomal Biogenesis Disorders
32. Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia
33. A homozygous POC1B variant causes recessive cone-rod dystrophy
34. Upward saccadic intrusions as the presenting feature for incomplete congenital stationary night blindness.
35. Zebrafish Models of Photoreceptor Dysfunction and Degeneration
36. RP1L1 and inherited photoreceptor disease: A review
37. Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish
38. Severe retinal degeneration in a patient with Canavan disease
39. A diagnostic approach to syndromic retinal dystrophies with intellectual disability
40. Pleiotropy inFOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling
41. Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
42. Visual Field Progression in Retinitis Pigmentosa
43. Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method
44. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia
45. Recovery of stereopsis after strabismus surgery in X-linked ocular albinism
46. Effect of stopping hydroxychloroquine therapy on the multifocal electroretinogram in patients with rheumatic disorders
47. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
48. X-linked ocular albinism: mapping and cloning the gene
49. Natural History of the Progression of Choroideremia (NIGHT) Study: Longitudinal Changes in Visual Acuity Over 20 Months
50. Gene Therapy Proof-of-Concept in Choroideremia: meta-analysis of NSR-REP1 Phase 1/2 Clinical Trials
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