Molecular Evaluation of exons 8 and 22 of the SHANK3 gene in Autism Spectrum Disorders

Autism spectrum disorders are a group of neurodevelopmental disorders with a complex and heterogeneous etiology. Studies have shown that genetic factors play an important role in the aetiology of these diseases. Recently, de novo mutations, frameshifts and deletions have been described in the SHANK3 gene, also known as ProSAP2 gene, which encodes a synaptic scaffolding protein. All the participants of this study had normal karyotypes and underwent screening for Fragile-X syndrome. Subsequently, they were analyzed by direct sequencing of different points of exons 8 and 22 of the SHANK3 gene. None of the study participants presented with changes in these regions. These findings may be due to the fact that mutations, deletions and duplications of the SHANK3 gene are rare

Analytical results for a Bessel function times Legendre polynomials class integrals

When treating problems of vector diffraction in electromagnetic theory, the evaluation of the integral involving Bessel and associated Legendre functions is necessary. Here we present the analytical result for this integral that will make unnecessary numerical quadrature techniques or localized approximations. The solution is presented using the properties of the Bessel and associated Legendre functions.Comment: 4 page

Percevejo bronzeado: Thaumastocoris peregrinus.

bitstream/item/123017/1/2009-folder-Percevejo.pd

Avaliação das variações no tempo de relaxação da água em bananas durante o amadurecimento.

bitstream/CNPDIA-2010/12619/1/CiT47-2009.pd

A framework for certification of large-scale component-based parallel computing systems in a cloud computing platform for HPC services

This paper addresses the verification of software components in the context of their orchestration to build cloud-based scientific applications with high performance computing requirements. In such a scenario, components are often supplied by different sources and their cooperation rely on assumptions of conformity with their published behavioral interfaces. Therefore, a faulty or ill-designed component, failing to obey to the envisaged behavioral requirements, may have dramatic consequences in practice. Certifier components, introduced in this paper, implement a verification as a service framework and are able to access the implementation of other components and verify their consistency with respect to a number of functional, safety and liveness requirements relevant to a specific application or a class of them. It is shown how certifier components can be smoothly integrated in HPC Shelf, a cloud-based platform for high performance computing in which different sorts of users can design, deploy and execute scientific applications.SmartEGOV: Harnessing EGOV for Smart Governance (Foundations, methods, Tools) / NORTE-01-0145-FEDER000037, supported by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (EFD