Objectivo: Apresentar a casuística da Prova do Suor, no período de 2009 a 2013 da UDR do DPS do INSA, I.P. Lisboa , e o estudo do gene CFTR, efetuado na Unidade de Genética Molecular, Departamento de Genética Humana, INSA, I.P. Lisboa.
Complementary 2D-PAGE and ‘shotgun’ LC–MS/MS approaches were combined to identify medium and low-abundant proteins in sera of Cystic Fibrosis (CF) patients (mild or severe pulmonary disease) in comparison with healthy CF-carrier and non-CF carrier individuals aiming to gain deeper insights into the pathogenesis of this multifactorial genetic disease. 78 differentially expressed spots were identified from 2D-PA...
Studies on linkage disequilibrium (LD) across the genome and populations have been used in recent years with the main objective of improving gene mapping of complex traits. Here, we characterize the patterns of genetic diversity of HLA loci and evaluate LD (D') extent in three genomic regions: Xq13.3, NRY and HLA. In addition, we examine the distribution of DXS1225-DXS8082 haplotype diversity in Azoreans and ma...
Dissertação de Mestrado em Química para o Ensino apresentada à Faculdade de Ciências da Universidade do Porto
General histology of small intestine (duodenum and jejunum) and the large intestine (colon and cloaca) of C. c. yacare (Daudin, 1802) Crocodilia-Reptilia. A comparative description is made of the histology of the small and large intestine of C. c. yacare. In all segments mucosa, submucosa, muscularis and serosa tunics were observed. The duodenum as very long villi, wich are well-developed and attached together ...
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