Export 83 results:
Author Title Type [ Year(Desc)]
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2005
Munar-Qués, M., Saraiva, M. J. M., Viader-Farré, C., Zabay-Becerril, J. M., & Mulet-Ferrer, J. (2005). Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain). Amyloid, 12(1), 54 - 61.
2006
Rolim, L., Zagalo-Cardoso, J. A., Paúl, C., Sequeiros, J., & Fleming, M. (2006). The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: Development of a new self-response inventory. Journal of Genetic Counseling, 15(5), 375 - 391.
2007
Freitas, R., Zhang, G., & Cohn, M. J. (2007). Biphasic Hoxd gene expression in shark paired fins reveals an ancient origin of the distal limb domain. PLoS ONE, 2(8).
Nascimento, D. S., Vale, A. D., Tomás, A. M., Zou, J., et al. (2007). Cloning, promoter analysis and expression in response to bacterial exposure of sea bass (Dicentrarchus labrax L.) interleukin-12 p40 and p35 subunits. Molecular Immunology, 44(9), 2277 - 2291.
Nascimento, D. S., Pereira, P. J. B., Reis, M. I. R., do Vale, A., et al. (2007). Molecular cloning and expression analysis of sea bass (Dicentrarchus labrax L.) tumor necrosis factor-α (TNF-α). Fish and Shellfish Immunology, 23(3), 701 - 710.
Couto, A. R., Bruges-Armas, J., Peach, C. A., Chapman, K., et al. (2007). A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. Calcified Tissue International, 81(2), 81 - 84.
Pons, S., Zanón-Moreno, V., Melo, P., Vila, V., et al. (2007). Optic neuropathy induced by prenatal drug or alcohol exposure. Neuropatía óptica inducida por exposición prenatal a drogas o alcoholArchivos de la Sociedad Espanola de Oftalmologia, 82(1), 21 - 26.
Stendel, C., Roos, A., Deconinck, T., Pereira, J., et al. (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158 - 164.
2008
Javaher, P., Kääriäinen, H., Kristoffersson, U., Nippert, I., et al. (2008). EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genetics, 11(2), 75 - 120.
Zanon-Moreno, V., Melo, P., Mendes-Pinto, M. M., Alves, C. J., et al. (2008). Serotonin levels in aqueous humor of patients with primary open-angle glaucoma. Molecular Vision, 14, 2143 - 2147.
Pons-Vázquez, S., Vila-Bou, V., Zanon-Moreno, V., Iborra, F. J., et al. (2008). Study of apoptosis and mitosis mechanisms in the eye. Experimental model of gestational toxic syndrome. Estudio de los mecanismos de apoptosis y mitosis en el globo ocular. Modelo experimental del síndrome tóxico gestacionalArchivos de la Sociedad Espanola de Oftalmologia, 83(1), 37 - 44.
2009
Kim, S., Silva, C., Zille, A., Lopez, C., et al. (2009). Characterisation of enzymatically oxidised lignosulfonates and their application on lignocellulosic fabrics. Polymer International, 58(8), 863 - 868.
Pereira, S., Zille, A., Micheletti, E., Moradas-Ferreira, P., et al. (2009). Complexity of cyanobacterial exopolysaccharides: Composition, structures, inducing factors and putative genes involved in their biosynthesis and assembly. FEMS Microbiology Reviews, 33(5), 917 - 941.
Song, R., Duarte, T. L., Almeida, G. M., Farmer, P. B., et al. (2009). Cytotoxicity and gene expression profiling of two hydroxylated polybrominated diphenyl ethers in human H295R adrenocortical carcinoma cells. Toxicology Letters, 185(1), 23 - 31.
Franciscon, E., Zille, A., Fantinatti-Garboggini, F., Silva, I. S., et al. (2009). Microaerophilic-aerobic sequential decolourization/biodegradation of textile azo dyes by a facultative Klebsiella sp. strain VN-31. Process Biochemistry, 44(4), 446 - 452.
Beetz, N., Harrison, M. D., Brede, M., Zong, X., et al. (2009). Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice. Journal of Clinical Investigation, 119(12), 3597 - 3612.
Nunes, A. F., Montero, M., Franquinho, F., Santos, S. D., et al. (2009). Transthyretin knockout mice display decreased susceptibility to AMPA-induced neurodegeneration. Neurochemistry International, 55(7), 454 - 457.
2010
Hollak, C. E. M., vom Dahl, S., Aerts, J. M. F. G., Belmatoug, N., et al. (2010). Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells, Molecules, and Diseases, 44(1), 41 - 47.
Pinto, J. P., Dias, V., Zoller, H., Porto, G., et al. (2010). Hepcidin messenger RNA expression in human lymphocytes. Immunology, 130(2), 217 - 230.
Perdu, B., De Freitas, F., Frints, S. G. M., Schouten, M., et al. (2010). Osteopathia striata with cranial sclerosis owing to WTX gene defect. Journal of Bone and Mineral Research, 25(1), 82 - 90.
Melo, P., Zanon-Moreno, V., Alves, C. J., Magalhães, A., et al. (2010). Oxidative stress response in the adult rat retina and plasma after repeated administration of methamphetamine. Neurochemistry International, 56(3), 431 - 436.
2011
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.
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.
Noborna, F., O'Callaghan, P., Hermansson, E., Zhang, X., et al. (2011). Heparan sulfate/heparin promotes transthyretin fibrillization through selective binding to a basic motif in the protein. Proceedings of the National Academy of Sciences of the United States of America, 108(14), 5584 - 5589.
Evans, D. M., Spencer, C. C. A., Pointon, J. J., Su, Z., et al. (2011). Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nature Genetics, 43(8), 761 - 767.

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