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The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.
Barbosa-Matos R, Leal Silva R, Garrido L, Aguiar AC, Garcia-Pelaez J, André A, Seixas S, Sousa SP, Ferro L, Vilarinho L, Gullo I, Devezas V, Oliveira R, Fernandes S, Costa SC, Magalhães A, Baptista M, Carneiro F, Pinheiro H, Castedo S, Oliveira C. Barbosa-Matos R, et al. Among authors: oliveira c, oliveira r. Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464. Cancers (Basel). 2021. PMID: 34503274 Free PMC article.
Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, Rocha-Sousa A. Esteves-Leandro J, et al. Among authors: oliveira r. Eur J Ophthalmol. 2022 Jan;32(1):664-672. doi: 10.1177/11206721211000000. Epub 2021 Mar 11. Eur J Ophthalmol. 2022. PMID: 33706576
Recommendations for genetic testing in cardiology: Review of major international guidelines.
Sousa A, Moldovan O, Lebreiro A, Bourbon M, António N, Rato Q, Rodrigues P, Toste A, Gonçalves Rocha M, Oliveira R, Granja S, Cruz C, Almeida J, Martins E. Sousa A, et al. Among authors: oliveira r. Rev Port Cardiol (Engl Ed). 2020 Oct;39(10):597-610. doi: 10.1016/j.repc.2020.03.016. Epub 2020 Oct 6. Rev Port Cardiol (Engl Ed). 2020. PMID: 33036867 Free article. Review. English, Portuguese.
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T; on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology. Santos-Silva R, et al. Among authors: oliveira mj, oliveira r. Horm Res Paediatr. 2019;91(1):33-45. doi: 10.1159/000497485. Epub 2019 Mar 19. Horm Res Paediatr. 2019. PMID: 30889569 Clinical Trial.
12q21.2q22 deletion: a new patient.
Oliveira R, Pereira C, Melo JB, Mesquita S, Venâncio M, Carreira IM, Saraiva J. Oliveira R, et al. Am J Med Genet A. 2015 Aug;167A(8):1877-83. doi: 10.1002/ajmg.a.37077. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25845712
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F, Barbosa M, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvänen AC, Gyllensten U, Pinto D, Maciel P. Lopes F, et al. Among authors: oliveira g, oliveira r. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6. J Med Genet. 2016. PMID: 26740508 Free article.
5,888 results