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R
McGovern, M. M., Elles, R., Beretta, I., Somerville, M. J., et al. (2007). Report of an international survey of molecular genetic testing laboratories. Community Genetics, 10(3), 123 - 131.
Sequeiros, J., Santos, C., & Jardim, L. B. (2009). Response to Tumas et al. Clinical Genetics, 75(2), 208.
Temudo, T., Santos, M., Ramos, E., Dias, K., et al. (2011). Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain and Development, 33(1), 69 - 76.
Leitea, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2017). Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy. Universitas Psychologica, 16(3).
Lemos, C., Neto, J. L., Pereira-Monteiro, J., Mendonça, D., et al. (2011). A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. European Journal of Neurology, 18(4), 649 - 655.
Paneque, M., Lemos, C., Sousa, A., Velázquez, L., et al. (2009). Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent. Journal of Genetic Counseling, 18(5), 483 - 493.
S
Moreira, M. - C., Klur, S., Watanabe, M., Németh, A. H., et al. (2004). Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics, 36(3), 225 - 227.
Bettencourt, C., Raposo, M., Kazachkova, N., Santos, C., et al. (2012). Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum, 11(4), 1045 - 1050.
Gheno, T. C., Furtado, G. V., Saute, J. A. M., Donis, K. C., et al. (2017). Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil. European Journal of Neurology, 24(7), 892 - e36.
Martindale, J. E., Seneca, S., Wieczorek, S., & Sequeiros, J. (2012). Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations. Human Mutation, 33(9), 1359 - 1365.
Trott, A., Jardim, L. B., Ludwig, H. T., Saute, J. A. M., et al. (2006). Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]. Clinical Genetics, 70(2), 173 - 176.
Temudo, T., Oliveira, P., Santos, M., Dias, K., et al. (2007). Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations. Neurology, 68(15), 1183 - 1187.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2015). Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling.
Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2016). Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling, 25(1), 79 - 89.
T
Lee, J. - H., Lee, J. - M., Ramos, E. M., Gillis, T., et al. (2012). TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications, 424(3), 404 - 408.
Alves-Ferreira, M., Coelho, T., Santos, D., Sequeiros, J., et al. (2017). A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. Molecular Neurobiology.
Castro, M. - J., Nunes, B., De Vries, B., Lemos, C., et al. (2008). Two novel functional mutations in the Na+, K+ -ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Clinical Genetics, 73(1), 37 - 43.
U
Chen, Z., Wang, C., Zheng, C., Long, Z., et al. (2017). Ubiquitin-related network underlain by (CAG)nloci modulate age at onset in Machado-Joseph disease. Brain, 140(4), e25.
V
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2015). Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2016). Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics, 24(5), 756 - 760.
W
Guimarães, L., Sequeiros, J., Skirton, H., & Paneque, M. (2013). What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective. Journal of Genetic Counseling.
Rantanen, E., Hietala, M., Kristoffersson, U., Nippert, I., et al. (2008). What is ideal genetic counselling? A survey of current international guidelines. European Journal of Human Genetics, 16(4), 445 - 452.
Sequeiros, J., Paneque, M., Guimarães, B., Rantanen, E., et al. (2012). The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. Journal of Community Genetics, 3(2), 113 - 124.
Y
Melo, M. M., Carvalho, M., Lopes, V., Anjos, M. J., et al. (2011). Y-STR haplotypes in three ethnic linguistic groups of Angola population. Forensic Science International: Genetics, 5(3), e83 - e88.

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