The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish Inquisition

The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.

Sustainability of systems interoperability in dynamic business networks

Dissertação para obtenção do Grau de Doutor em Engenharia Electrotécnica e de Computadores

A framework for semantic checking of information systems

Dissertação para obtenção do Grau de Mestre em Engenharia Electrotécnica e de Computadores

Information Systems Outsourcing Adoption

Dissertação apresentada como requisito parcial para obtenção do grau de Mestre em Estatística e Gestão de Informação

Organizational culture influence on information quality - use of business intelligence systems relationship: portuguese context

Dissertação apresentada como requisito parcial para obtenção do grau de Mestre em Estatística e Gestão de Informação

Public Participation geographic information systems in developing countries: lessons from Uganda on the impacts of interactive screens PPGIS and community perceptions of space

Dissertation submitted in partial fulfillment of the requirements for the Degree of Master of Science in Geospatial Technologies.

A systems biology framework for pathway level culture media engineering: pplication to Pichia pastoris cultures

Dissertação para obtenção do Grau de Doutor em Engenharia Química e Bioquímica

Fiscal adjustments and sovereign default in different government systems

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

Comparative analysis: Public and private school management systems

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

Marketing plan for GuestCentric systems

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Corporate networks in Poland: Interlocking directorates and business systems

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Implementing quality management systems in small and medium construction companies: a contribution to a road map for success

Leadership and Management in Engineering, January 2009

Internationalization process: GuestCentric Systems Embracing People‟s Republic of China

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

GuestCentric Systems and its internationalization to Brazil

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Management from the NOVA – School of Business and Economics

Renewable energy systems the theme for the PACITA summer school on TA, Liège, Belgium, 25 28 June 2012

The summer school “Renewable Energy Systems: Role and Use of Parliamentary Technology Assessment” was the first European Summer School with a pure focus on technology assessment. The aim of the three-day long summer school of the European project Parliaments and Civil Society in Technology Assessment (PACITA) was to create awareness of the potential of technology groups in Europe. Therefore, the summer school involved keynotes, practical exercises, mutual reflection, cutting edge training and networking to deal with the theme of renewable energy systems out of the perspective of Technology Assessment (TA), to meet transition objectives or to critically assess energy technologies.