Current management of inherited retinal degenerations in Portugal (IRD-PT survey)-Reference-Cited by-同舟云学术

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Current management of inherited retinal degenerations in Portugal (IRD-PT survey)

Published:2024-09-14 Issue:1 Volume:14 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Marques João Pedro,Ferreira Nuno,Moreno Natacha,Marta Ana,Vaz-Pereira Sara,Estrela-Silva Sérgio,Costa José,Cardoso Ana Rocha,Neves Pedro,Duarte Lilianne,Meira Dália,Pires Joana,Menezes Carlos,Rodrigues Filipa,Arede Pedro,Coutinho André,Cabral Diogo,Coutinho Inês,Ribeiro Miguel,Macedo Marta,Brito Sérgio,Isidro Filipe,Rodrigues Filipa Gomes,Sousa João Paulo Castro,Marques Marco,Martins Raquel,Silva Eduardo

Funder

Novartis Portugal

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41598-024-72589-4.pdf

Reference21 articles.

1. Griffith, J. 3rd. et al. Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review. Genes (Basel) https://doi.org/10.3390/genes13081490 (2022).

2. Olivares-Gonzalez, L., Velasco, S., Campillo, I. & Rodrigo, R. Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies. Int. J. Mol. Sci. 22, 2096 (2021).

3. Lam, B. L. et al. Genetic testing and diagnosis of inherited retinal diseases. Orphanet J. Rare Dis. 16(1), 514 (2021).

4. Broadgate, S., Yu, J., Downes, S. M. & Halford, S. Unravelling the genetics of inherited retinal dystrophies: Past, present and future. Prog. Retin. Eye Res. 59, 53–96 (2017).

5. Lee, K. & Garg, S. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genet. Med. 17(4), 245–252 (2015).

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