Export 124 results:
Author [ Title(Asc)] Type Year
Filters: Author is Sequeiros, J.  [Clear All Filters]
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
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.
W
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.
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.
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.
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.
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.
T
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.
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.
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.
S
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.
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.
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.
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.
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.
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.
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.
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.
R
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.
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.
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).
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.
Sequeiros, J., Santos, C., & Jardim, L. B. (2009). Response to Tumas et al. Clinical Genetics, 75(2), 208.
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.
Rantanen, E., Hietala, M., Kristoffersson, U., Nippert, I., et al. (2008). Regulations and practices of genetic counselling in 38 European countries: The perspective of national representatives. European Journal of Human Genetics, 16(10), 1208 - 1216.

Pages


Home | Site Map | Contacts | Credits | Privacy & Cookies | Intranet | Social Networks |


rua alfredo allen, 208, 4200-135 porto - portugal | tel +351 220 408 800 | email: info@i3s.up.pt | © copyright 2010 ibmc