Genética dos Açores

Interesse da Investigação

1. Genetics of human isolated populations (PI: Luisa Mota-Vieira)
1.1. Genetic structure of Azorean population
1.2. Effect of consanguinity on the incidence of genetic disorders.

Publicações

Lima, M., Kay, T., Vasconcelos, J., Mota-Vieira, L., Gonzalez, C., Peixoto, A., Abade, A., MacLeod, P., Graça, R. and Santos, J. (2001). Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores islands (Portugal). Community Genet 4 :36-42

Leroux, A., Mota-Vieira, L. and Kahn, A. (2001). Transcriptional and translational mechanisms of cytochrome b5 reductase isoenzymes generation in humans. J. Biochem. 355 :529-535

Lavedan, C., Buchholtz, S., Auberger, G., Albin, R.L., Athanassiadou, A., Blancato, J., Burguera, J.A., Ferrel, R.E., Kostic, V., Leroy, E., Leube, B., Mota-Vieira, L., Papapetropoulous, T., Pericak-Vance, M.A., Pinkus, J., Scott, W.K., Ulm, G., Vasconcelos, J., Vilchez, J.J. and Nussbaum, R.L. (1998). Absence of mutational in the beta- and gamma-sinuclein genes in familial autosomal dominant Parkinson's disease. DNA Research 31 :401-402

Reguigne-Arnould, Faure, S., Chery, M., Mota-Vieira, L., Mollicone, R., Candelier, J.J., Oriol, R. and Couillin, P. (1996). Physical mapping of 49 microsatellite marquers on chromosome 19 and correlation with the genetic linkage map. Genomics 32 :458-461

Mota-Vieira, L., Kaplan, J-C., Kahn, A. and Leroux, A. (1995). Four new mutations in the NADH-cytochrome b5 reductase gene from patients with congenital methemoglobinemia type II. Blood 85 :2254-2262

Mota-Vieira, L., Kaplan, J-C., Kahn, A. and Leroux, A. (1994). Heterogeneity of the rat NADH-cytochrome b5 reductase transcripts resulting from multiple alternative first exons. Eur. J. Biochem. 220 :729-737