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Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP. Sá MJ, et al. Among authors: carvalho a, carvalho f. J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19. J Med Genet. 2013. PMID: 23958657
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: carvalho f. Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307543
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP, Nowak A, Barbey F, Torres M, Nunes JP, Teixeira-E-Costa F, Carvalho F, Sampaio S, Tavares I, Pereira O, Soares AL, Carmona C, Cardoso MT, Jurca-Simina IE, Spada M, Ferreira S, Germain DP. Oliveira JP, et al. Among authors: carvalho f. Eur J Med Genet. 2020 Feb;63(2):103703. doi: 10.1016/j.ejmg.2019.103703. Epub 2019 Jun 11. Eur J Med Genet. 2020. PMID: 31200018
Detection of encephalitis-causing viruses reveals predominance of chikungunya virus in the state of Bahia, Brazil.
Sampaio MPS, Rosário MSD, Martins LC, Trindade LVL, Francisco MVLO, Costa BGG, Vasconcelos GA, Lima IAB, Macêdo YSF, Carvalho FML, de Santana MBR, Khouri R, Fritsch H, Xavier J, Fonseca V, Giovanetti M, de Mello ALES, Pereira FM, Campos GS, de Jesus PAP, Farias DS, Souza MS, Galvão AJP, Costa FO, Bessa MC, Chagas JRLP, Silvany C, Teles JMM, de Lima MM, Farias TLA, Gräf T, de Siqueira IC. Sampaio MPS, et al. Among authors: carvalho fml. Int J Infect Dis. 2024 May 16:107090. doi: 10.1016/j.ijid.2024.107090. Online ahead of print. Int J Infect Dis. 2024. PMID: 38762045 Free article.
2,584 results