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Your search keyword '"Choroideremia genetics"' showing total 275 results

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275 results on '"Choroideremia genetics"'

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1. Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.

2. A novel large multi-gene deletion in syndromic choroideremia.

3. Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells.

4. Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.

5. Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.

6. An Open-Label Phase II Study Assessing the Safety of Bilateral, Sequential Administration of Retinal Gene Therapy in Participants with Choroideremia: The GEMINI Study.

7. Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.

8. A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

9. Choroideremia presenting as vision loss secondary to choroidal neovascularization.

10. Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.

12. Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13 , 1268".

13. Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.

14. Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.

15. Choroideremia: The Endpoint Endgame.

16. Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia.

17. Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.

18. Clinical and Genetic Findings in Korean Patients with Choroideremia.

19. Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.

20. AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy.

21. Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.

22. A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene.

23. PERIPHERAL OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN A CHOROIDEREMIA CARRIER.

24. DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.

25. Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.

26. Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.

27. A UNILATERAL FOVEAL VITELLIFORM LESION IN A CHOROIDEREMIA CARRIER.

28. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

29. Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy.

31. [Genetic diagnosis of 3 families with choroideremia].

32. Choroideremia: molecular mechanisms and therapies.

33. Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy.

34. Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.

35. Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

37. Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.

38. Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.

39. REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

40. CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

41. Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor.

42. Low Luminance Visual Acuity and Low Luminance Deficit in Choroideremia and RPGR-Associated Retinitis Pigmentosa.

43. Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies.

44. Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.

45. Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.

46. A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

47. CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.

48. Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.

49. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

50. HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA.

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