186 results on '"Condroyer, Christel"'
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2. RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes
3. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
4. Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
5. Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
6. Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9
7. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
8. AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis
9. Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells
10. Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines
11. Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
12. Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy
13. A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
14. Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
15. CNGB1 ‐related rod‐cone dystrophy: A mutation review and update
16. WDR34, a candidate gene for non-syndromic rod-cone dystrophy
17. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort
18. CHM mutation spectrum and disease: An update at the time of human therapeutic trials
19. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
20. WDR34 , a candidate gene for non‐syndromic rod‐cone dystrophy
21. C9orf72 repeat expansions are a rare genetic cause of parkinsonism
22. Large-scale screening of the Gaucherʼs disease-related glucocerebrosidase gene in Europeans with Parkinsonʼs disease
23. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
24. Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease
25. Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother
26. Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy
27. Parkinsonʼs disease-related LRRK2 G2019S mutation results from independent mutational events in humans
28. Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma
29. Vessels' Morphology in SMAD4 and BMPR1A-Related Juvenile Polyposis
30. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
31. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations inPDE6AandPDE6B
32. AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY
33. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders
34. Identification of a novelGRM6mutation in a previously described consanguineous family with complete congenital stationary night blindness
35. Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients
36. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy
37. The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21
38. WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.
39. The E3 Ubiquitin Ligases TRIM17 and TRIM41 Modulate α-Synuclein Expression by Regulating ZSCAN21
40. A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family.
41. A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family
42. Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
43. MERTK mutation update in inherited retinal diseases
44. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy
45. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness
46. Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy
47. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
48. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease
49. A novel missense mutation of GJA8causes congenital cataract in a large Mauritanian family
50. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy.
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