Export 10 results:
Author Title [ Type(Asc)] Year
Filters: Author is Coelho, T.  [Clear All Filters]
Journal Article
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.
Do Amaral, B., Coelho, T., Sousa, A., & Guimarães, A. (2009). Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type. Amyloid, 16(4), 232 - 238.
Soares, M. L., Coelho, T., Sousa, A., Batalov, S., et al. (2005). Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease. Human Molecular Genetics, 14(4), 543 - 553.
Santos, R., Oliveira, J., Vieira, E., Coelho, T., et al. (2010). Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51. Journal of Human Genetics, 55(8), 546 - 549.
Oliveira, J., Santos, R., Soares-Silva, I., Jorge, P., et al. (2008). LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clinical Genetics, 74(6), 502 - 512.
Soares, M. L., Coelho, T., Sousa, A., Holmgren, G., et al. (2004). Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: Genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. European Journal of Human Genetics, 12(3), 225 - 237.
Santos, D., Coelho, T., Alves-Ferreira, M., Sequeiros, J., et al. (2017). Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset. Annals of Clinical and Translational Neurology, 4(2), 98 - 105.
Munar-Qués, M., Masjuan, J., Coelho, T., Moreira, P., et al. (2007). Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene. Amyloid, 14(2), 147 - 152.

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@ibmc.up.pt | © copyright 2010 ibmc