Export 8 results:
Author Title [ Type(Asc)] Year
Filters: Author is Amorim, A.  [Clear All Filters]
Journal Article
Souto, L., Alves, C., Gusmão, L., Ferreira, E., et al. (2005). Population data on 15 autosomal STRs in a sample from East Timor. Forensic Science International, 155(1), 77 - 80.
Martins, S., Calafell, F., Wong, V. C. N., Sequeiros, J., & Amorim, A. (2006). A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European Journal of Human Genetics, 14(8), 932 - 940.
Quental, S., Macedo-Ribeiro, S., Matos, R., Vilarinho, L., et al. (2008). Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Molecular Genetics and Metabolism, 94(2), 148 - 156.
Silva, F., Pereira, R., Gusmão, L., Santos, C., et al. (2010). Genetic profiling of the Azores Islands (Portugal): Data from 10 X-chromosome STRS. American Journal of Human Biology, 22(2), 221 - 223.
Duarte-Pereira, S., Pereira-Castro, I., Silva, S. S., Correia, M. G., et al. (2016). Extensive regulation of nicotinate phosphoribosyltransferase (NAPRT) expression in human tissues and tumors. Oncotarget, 7(2), 1973 - 1983.
Martins, S., Coutinho, P., Silveira, I., Giunti, P., et al. (2008). Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(4), 439 - 446.
Martins, S., Calafell, F., Gaspar, C., Wong, V. C. N., et al. (2007). Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology, 64(10), 1502 - 1508.
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).

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