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D
Santos, P. I., Figueiredo, E., Gomes, I., & Sequeiros, J. (2010). Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M). Journal of Genetic Counseling, 19(6), 585 - 592.
Varga, O., Soini, S., Kääriäinen, H., Cassiman, J. - J., et al. (2012). Definitions of genetic testing in European legal documents. Journal of Community Genetics, 3(2), 125 - 141.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A., & Sequeiros, J. (2016). Depression as the Middle-and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders. Temas em Psicologia, 24(2), 579 - 594.
Cecchin, C. R., Pires, A. P., Rieder, C. R., Monte, T. L., et al. (2006). Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. Community Genetics, 10(1), 19 - 26.
Patch, C., Sequeiros, J., & Cornel, M. C. (2009). Direct to consumer genetic tests. European Journal of Human Genetics, 17(9), 1111.
Mendes, A., Sousa, L., Sequeiros, J., & Clarke, A. (2017). Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science and Medicine, 182, 73 - 80.
Emmel, V. E., Alonso, I., Jardim, L. B., Saraiva-Pereira, M. L., & Sequeiros, J. (2011). Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?. Clinical Genetics, 79(1), 100 - 102.
Lafrenière, R. G., Cader, M. Z., Poulin, J. - F., Andres-Enguix, I., et al. (2010). A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine, 16(10), 1157 - 1160.
E
Sequeiros, J., Martindale, J., & Seneca, S. (2010). EMQN Best Practice Guidelines for molecular genetic testing of SCAs. European Journal of Human Genetics, 18(11), 1173 - 1176.
Lobato, L., Beirão, I., Silva, M., Fonseca, I., et al. (2004). End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors. Amyloid, 11(1), 27 - 37.
Sequeiros, J., Martins, S., & Silveira, I. (2011). Epidemiology and population genetics of degenerative ataxias. Handbook of Clinical Neurology (Vol. 103, pp. 227 - 251).
Javaher, P., Kääriäinen, H., Kristoffersson, U., Nippert, I., et al. (2008). EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genetics, 11(2), 75 - 120.
Temudo, T., Rios, M., Prior, C., Carrilho, I., et al. (2009). Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment. Brain and Development, 31(1), 46 - 51.
Lemos, C., Pereira-Monteiro, J., Mendonça, D., Ramos, E. M., et al. (2010). Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology, 67(4), 422 - 427.
Costa, M. D. C., Teixeira-Castro, A., Constante, M., Magalhães, M., et al. (2006). Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of Human Genetics, 51(8), 645 - 651.
Seneca, S., Morris, M. A., Patton, S., Elles, R., & Sequeiros, J. (2008). Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. European Journal of Human Genetics, 16(8), 913 - 920.

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