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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: alves s, alves r. Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307543
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
Coutinho MF, Encarnação M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigalás O, Prata MJ, Alves S. Coutinho MF, et al. Among authors: alves s. Clin Genet. 2011 Sep;80(3):273-80. doi: 10.1111/j.1399-0004.2010.01539.x. Epub 2010 Sep 29. Clin Genet. 2011. PMID: 20880125
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
Nabais Sá MJ, Sampaio S, Oliveira A, Alves S, Moura CP, Silva SE, Castro R, Araújo JA, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar MA, Tavares I, Freitas L, Sousa TC, Henriques AC, Costa FT, Morgado E, Sousa FT, Sousa JP, da Costa AG, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho MF, Pestana M, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: alves s, alves r. Clin Genet. 2015 Nov;88(5):462-7. doi: 10.1111/cge.12522. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307721
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Grangeia A, Alves S, Gonçalves L, Gregório I, Santos AC, Barros H, Barros A, Carvalho F, Moura C. Grangeia A, et al. Among authors: alves s. Pulmonology. 2018 Jan-Feb;24(1):3-9. doi: 10.1016/j.pulmoe.2017.12.007. Epub 2018 Mar 5. Pulmonology. 2018. PMID: 29589582 Free article.
1,181 results