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42 results on '"Bocquet, Béatrice"'

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1. Contributors

2. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

3. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

4. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

5. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

6. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

7. Characterization of SSBP1-related optic atrophy and foveopathy

8. Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

9. Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

10. Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

12. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

13. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

14. Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

15. Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

16. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

17. A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

19. Martinique Crinkled Retinal Pigment Epitheliopathy

20. A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

21. Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen

22. WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

23. Clinical Evaluation and Cone Alterations in Choroideremia

24. Pattern dystrophy in a female carrier of RP2 mutation

25. A dominant mutation inMAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

26. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

27. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

28. Autosomal recessive retinitis pigmentosa withRP1mutations is associated with myopia

29. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

30. Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

33. Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

34. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

36. Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

37. Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis

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