Publications

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2005
Direct detection of mutations/SNPs using DNA-derivatised gold nanoparticles, Baptista, P., Doria G., Matias A., Osorio L., Pereira E., and Ricardo F. , Congress of Clinical Chemistry and Laboratory Medicine, Jena, Germany, (2005)
Principles in genetic risk assessment, Baptista, Pedro Viana , THERAPEUTICS AND CLINICAL RISK MANAGEMENT, Volume 1, Issue 1, p.15-20, (2005) AbstractWebsite

Risk assessment constitutes an essential component of genetic counseling and testing, and the genetic risk should be estimated as accurately as possible for individual and family decision making. All relevant information retrieved from population studies and pedigree and genetic testing enhances the accuracy of the assessment of an individual’s genetic risk. This review will focus on the following general aspects implicated in risk assessment: the increasing genetic information regarding disease; complex traits versus Mendelian disorders; and the influence of the environment and disease susceptibility. The influence of these factors on risk assessment will be discussed.

Colorimetric detection of eukaryotic gene expression with DNA-derivatized gold nanoparticles, Baptista, P., Doria G., Henriques D., Pereira E., and Franco R. , Journal of Biotechnology, Volume 119, Number 2, p.111-117, (2005) Abstract

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2001
Is the IVS2 region of the human Agamma globin gene an important regulatory region?, Osorio-Almeida, L., Gonçalves I., Raimundo A., and Baptista P. , 10th International Congress of Human Genetics, Vienna, Austria, (2001)
1998
Bacterial contig map of the 21q11 region associated with Alzheimer's disease and abnormal myelopoiesis in Down syndrome, GROET, J., IVES JH, SOUTH AP, and al.et , GENOME RESEARCH, Volume 8, p.385-398, (1998) Abstract

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Construction of a YAC/PAC physical map of a gene rich region in 1p13.3., FLOMEN, R., BAPTISTA PB, JAMES CH, and al.et , EUROPEAN JOURNAL OF HUMAN GENETICS, Volume 6, p.168, (1998) Abstract

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