186 results on '"Bocquet, Béatrice"'
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2. Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy
3. Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin
4. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
5. Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype–Genotype Correlation and Natural History in the Aim of Gene Therapy
6. Validation of Nanopore long-read sequencing to resolve RPGRORF15 genotypes in individuals with X-linked retinitis pigmentosa
7. Contributors
8. Characterization of SSBP1-related optic atrophy and foveopathy
9. Identification of biomarkers reflecting OPA1-related Dominant Optic Atrophy severity to infer patient cohorts eligible to clinical trials
10. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
11. Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights
12. WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity
13. Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial
14. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
15. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
16. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
17. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
18. Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
19. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
20. A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype
21. LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13
22. Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis
23. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
24. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
25. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
26. Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
27. Cathepsin L and cystatin B gene expression discriminates immune cœlomic cells in the leech Theromyzon tessulatum
28. Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
29. Early-Onset Foveal Involvement in Retinitis Punctata Albescens With Mutations in RLBP1
30. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa
31. A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
32. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
33. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations
34. Pea3 Transcription Factor Cooperates with USF-1 in Regulation of the Murine bax Transcription without Binding to an Ets-binding Site
35. Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus
36. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
37. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
38. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
39. A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
40. Clinical Evaluation and Cone Alterations in Choroideremia
41. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
42. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
43. Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
44. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
45. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
46. Pathogenic variants in IMPG1cause autosomal dominant and autosomal recessive retinitis pigmentosa
47. Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
48. A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
49. Pattern dystrophy in a female carrier of RP2 mutation
50. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
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