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Quoted phrase not found in phrase index: "Exudative vitreoretinopathy 5"
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Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.
Wang X, Chen J, Xiong H, Yu X. Wang X, et al. PLoS One. 2022 Jul 13;17(7):e0271326. doi: 10.1371/journal.pone.0271326. eCollection 2022. PLoS One. 2022. PMID: 35830446 Free PMC article.
OBJECTIVE: To systematically review the relationship between genotypes and clinical phenotypes of Familial exudative vitreoretinopathy (FEVR) to support risk estimation and therapeutic decisions. ...Among all the cases, the mutation frequencies of LRP5, FZD4, NDP, T …
OBJECTIVE: To systematically review the relationship between genotypes and clinical phenotypes of Familial exudative vitreoretinop …
The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.
Britten-Jones AC, Gocuk SA, Goh KL, Huq A, Edwards TL, Ayton LN. Britten-Jones AC, et al. Am J Ophthalmol. 2023 May;249:57-73. doi: 10.1016/j.ajo.2022.12.027. Epub 2022 Dec 30. Am J Ophthalmol. 2023. PMID: 36592879 Review.
The diagnostic yield of NGS was 61.3% (95% confidence interval: 57.8-64.7%; 51 studies) in mixed IRD phenotypes, 58.2% (51.6-64.6%; 41 studies) in rod-cone dystrophies, 57.7% (46.8-68.3%; eight studies) in macular and cone/cone-rod dystrophies, and 47.6% (95% CI: 41.0-54.3%; four …
The diagnostic yield of NGS was 61.3% (95% confidence interval: 57.8-64.7%; 51 studies) in mixed IRD phenotypes, 58.2% (51.6-64.6%; 41 studi …