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Author Title [ Type(Desc)] Year
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Journal Article
Javaher, P., Nyoungui, E., Kääriäinen, H., Kristoffersson, U., et al. (2010). Genetic screening in Europe. Public Health Genomics, 13(7-8), 524 - 537.
Melo, M. M., Carvalho, M., Lopes, V., Anjos, M. J., et al. (2010). Genetic study of 15 STRs loci of Identifiler system in Angola population. Forensic Science International: Genetics, 4(5), e153 - e157.
Becker, F., Van El, C. G., Ibarreta, D., Zika, E., et al. (2011). Genetic testing and common disorders in a public health framework: How to assess relevance and possibilities. European Journal of Human Genetics, 19(SUPPL. 1), S6 - S44.
Sequeiros, J., Gibbon, S., & Clarke, A. (2015). Genetics and ethics in Latin America. Journal of Community Genetics, 6(3), 185 - 187.
do Carmo Costa, M., Gomes-da-Silva, J., Miranda, C. J., Sequeiros, J., et al. (2004). Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene. Genomics, 84(2), 361 - 373.
Santos, M., do Carmo Costa, M., Edite Rio, M., José Sá, M., et al. (2004). Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis, 10(2), 153 - 157.
Ramos, E. M., Gillis, T., Mysore, J. S., Lee, J. - M., et al. (2015). Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 168(2), 135 - 143.
Martins, S., Seixas, A. I., Magalhães, P., Coutinho, P., et al. (2005). Haplotype diversity and somatic instability in normal and expanded SCA8 alleles. American Journal of Medical Genetics - Neuropsychiatric Genetics, 139 B(1), 109 - 114.
Mendes, A., Paneque, M., Sousa, L., Clarke, A., & Sequeiros, J. (2016). How communication of genetic information within the family is addressed in genetic counselling: A systematic review of research evidence. European Journal of Human Genetics, 24(3), 315 - 325.
Santos, C., Wanderley, H., Vedolin, L., Pena, S. D. J., et al. (2008). Huntington disease-like 2: The first patient with apparent European ancestry. Clinical Genetics, 73(5), 480 - 485.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Psychology, Health and Medicine, 22(2), 244 - 249.
Quintas, M., Neto, J. L., Pereira-Monteiro, J., Barros, J., et al. (2013). Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility. PLoS ONE, 8(9).
Soini, S., Ibarreta, D., Anastasiadou, V., Aymé, Sé, et al. (2006). The interface between assisted reproductive technologies and genetics: Technical, social, ethical and legal issues. European Journal of Human Genetics, 14(5), 588 - 645.
Ramos, E. M., Cerqueira, J., Lemos, C., Pinto-Basto, J., et al. (2012). Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions. Movement Disorders, 27(4), 583 - 585.
Couto, A. R., Zhang, Y., Timms, A., Bruges-Armas, J., et al. (2012). Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatology International, 32(9), 2745 - 2751.
Sequeiros, J., Ramos, E. M., Cerqueira, J., Costa, M. C., et al. (2010). Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population. Clinical Genetics, 78(4), 381 - 387.
M. Pereira, daConceiçã, Morais, S., Sequeiros, J., & Alonso, I. (2016). Large-scale functional RNAi Screen in C. elegans identifies TGF-β and notch signaling pathways as modifiers of CACNAIA. ASN Neuro, 8(2).
Prestes, P. R., Saraiva-Pereira, M. L., Silveira, I., Sequeiros, J., & Jardim, L. B. (2008). Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population. Annals of Human Genetics, 72(1), 57 - 64.
Ogun, S. A., Martins, S., Adebayo, P. B., Dawodu, C. O., et al. (2015). Machado-Joseph disease in a Nigerian family: Mutational origin and review of the literature. European Journal of Human Genetics, 23(2), 271 - 273.
Morais, S., Raymond, L., Mairey, M., Coutinho, P., et al. (2017). Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics, 25(11), 1217 - 1228.
Lêdo, S., Leite, Â., Souto, T., Dinis, M. A., & Sequeiros, J. (2016). Mid-and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy. Revista Brasileira de Psiquiatria, 38(2), 113 - 120.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases. Interdisciplinaria, 34(1), 125 - 140.
Alonso, I., Marques, J. M., Sousa, N., Sequeiros, J., et al. (2008). Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant. Neurobiology of Aging, 29(11), 1733 - 1743.
Temudo, T., Ramos, E., Dias, K., Barbot, C., et al. (2008). Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement Disorders, 23(10), 1384 - 1390.
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.


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