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Genotype-first approach to identify associations between CDH1 germline variants...

Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre dos Santos; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia

Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown significance. We conducted a genotype– phenotype analysis in families carrying rare CDH1 variants, comparing cancer s...



A trust scale for human-robot interaction: translation, adaptation, and validat...

Pinto, Ana; Sousa, Sónia; Simões, Ana; Santos, Joana

Recently there has been an increasing demand for technologies (automated and intelligent machines) that brings benefits to organizations and society. Similar to the widespread use of personal computers in the past, today’s needs are towards facilitating human-machine technology appropriation, especially in highly risky and regulated industries like robotics, manufacturing, automation, military, finance, or heal...


The bigger the better? Evaluation of the value of large multi-gene panels in Po...

Baixia, Márcia; Sousa, Sónia; Pina, Maria J.; Silva, Raquel M; Cirnes, Luís; Canedo, Paulo; Castedo, Sérgio; Machado, José C,

Introduction: Genetic testing of cardiomyopathies went through major changes in the last few years, from sequential Sanger sequencing of the most likely gene candidates, to multigene panels by NGS, with an ever increasing number of genes analyzed.


Star anise (Illicium verum Hook. f.) essential oil: Antioxidant properties and ...

Luís, Ângelo; Sousa, Sónia; Wackerlig, Judith; Dobusch, Daniel; Duarte, Ana Paula; Pereira, L.; Domingues, F.C.

The increased resistance of pathogenic bacteria to multiple antimicrobial agents is becoming a significant public health threat. For many pathogenic bacteria there are already limited or no effective antimicrobials available to treat the infections caused by them. Acinetobacter baumannii is a Gram‐negative, biofilm‐forming, nonmotile coccobacillus and a major human pathogen causing hospital‐acquired infections,...

Date: 2019   |   Origin: uBibliorum

Phytochemical characterization, and evaluation of rheological and antioxidant p...

Luís, Ângelo; Sousa, Sónia; Duarte, Ana Paula; Pereira, L.; Domingues, F.C.

The consumption of berries and their contribution to improving the human health is a subject of considerable interest, have already resulted in several research projects and numerous clinical trials in humans. The main goal of this study was to evaluate the phytochemical composition (total reducing sugars, total phenolics, flavonoids, and anthocyanins) of some commercially-available juices of berries and associ...

Date: 2018   |   Origin: uBibliorum

Alterations of gray and white matter morphology in obsessive compulsive disorde...

Gonçalves, Oscar F.; Sousa, Sónia; Carvalho, Sandra; Leite, Jorge; Ganho, Ana; Fernandes-Gonçalves, Ana; Pocinho, Fernando; Carracedo, Angel

Background: While the ethio-pathogenesis of Obsessive-Compulsive disorder (OCD) remains unknown, there is increased evidence of widespread structural alterations in both white and gray matter in OCD patients that include, but are not restricted, to abnormalities in corticostriatal-thalamo-cortical (CSTC) regions. The objective of this study was to test the existence of structural alterations in both white and g...



A criança e a aprendizagem: a questão do envolvimento

Sousa, Sónia; Freire-Ribeiro, Ilda

Alguns estudos centrados na criança sugerem que a aprendizagem ocorre em consequência do envolvimento. No envolvimento encontramos implícitos indicadores como a concentração, a energia, a complexidade e criatividade, a expressão facial e postura, a persistência, a precisão, o tempo de reação, a linguagem e a satisfação. Uma criança envolvida numa atividade está a ter uma experiência de aprendizagem significativ...

Date: 2016   |   Origin: Biblioteca Digital do IPB

O envolvimento da criança na (co)construção da aprendizagem

Sousa, Sónia; Freire-Ribeiro, Ilda

O envolvimento apresenta-se como uma qualidade da atividade humana na qual encontramos impl citos sinais como a concentra c~ao, a persist^encia, a energia e a motiva c~ao intr nseca. Uma crian ca envolvida numa atividade ou tarefa est a a ter uma experi^encia de aprendizagem signi cativa, intensa e duradoura. Alguns estudos centrados na crian ca sugerem que a aprendizagem ocorre em consequ^encia do envolvimento...

Date: 2016   |   Origin: Biblioteca Digital do IPB

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