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Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.
Santos C, Almeida A, Pinto R, Kaminska K, Peter VG, Sousa AB, Rivolta C, Coutinho-Santos L. Santos C, et al. Ophthalmic Genet. 2022 Aug;43(4):576-580. doi: 10.1080/13816810.2022.2103834. Epub 2022 Jul 28. Ophthalmic Genet. 2022. PMID: 35903041 No abstract available.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C. Peter VG, et al. Among authors: santos c. PNAS Nexus. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043. eCollection 2023 Mar. PNAS Nexus. 2023. PMID: 36909829 Free PMC article.
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP. Cortinhal T, et al. Among authors: santos c, santos lc. Graefes Arch Clin Exp Ophthalmol. 2024 Jan 8. doi: 10.1007/s00417-023-06360-2. Online ahead of print. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38189974 Free article.
The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Marta A, Marques JP, Santos C, Coutinho-Santos L, Vaz-Pereira S, Costa J, Arede P, Félix R, Geada S, Gouveia N, Silva R, Baptista M, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J. Marta A, et al. Among authors: santos c. Orphanet J Rare Dis. 2024 Apr 9;19(1):151. doi: 10.1186/s13023-024-03161-6. Orphanet J Rare Dis. 2024. PMID: 38594754 Free PMC article.
Erratum: Sociome Data Commons: A scalable and sustainable platform for investigating the full social context and determinants of health - ERRATUM.
Tilmon S, Nyenhuis S, Solomonides A, Barbarioli B, Bhargava A, Birz S, Bouzein K, Cardenas C, Carlson B, Cohen E, Dillon E, Furner B, Huang Z, Johnson J, Krishnan N, Lazenby K, Li K, Makhni S, Miller D, Ozik J, Santos C, Sleiman M, Solway J, Krishnan S, Volchenbouma S. Tilmon S, et al. Among authors: santos c. J Clin Transl Sci. 2024 May 13;8(1):e82. doi: 10.1017/cts.2024.537. eCollection 2024. J Clin Transl Sci. 2024. PMID: 38745878 Free PMC article.
Intranasal respiratory syncytial virus vaccine attenuated by codon-pair deoptimization of seven open reading frames is genetically stable and elicits mucosal and systemic immunity and protection against challenge virus replication in hamsters.
Levy M, Chen JW, Kaiser JA, Park HS, Liu X, Yang L, Santos C, Buchholz UJ, Le Nouën C. Levy M, et al. Among authors: santos c. PLoS Pathog. 2024 May 13;20(5):e1012198. doi: 10.1371/journal.ppat.1012198. Online ahead of print. PLoS Pathog. 2024. PMID: 38739647 Free article.
5,789 results