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Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome ...

Marques, B; Ferreira, C; Brito, F; Pedro, S; Alves, C; Lourenço, T; Amorim, M; Correia, H

Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extre...


Trisomy 15 Mosaicism: Challenges in Prenatal Diagnosis

Silva, M; Alves, C; Pedro, S; Marques, B; Ferreira, C; Furtado, J; Martins, AT; Fernandes, R; Correia, J; Correia, H


Genomic Signatures and Antiviral Drug Susceptibility Profile of A(H1N1)pdm09

Tiago Gíria, M; Rebelo Andrade, H; Santos, LA; Correia, V; Pedro, S; Almeida Santos, M

Background: Genetic changes in influenza surface and internal genes can alter viral fitness and virulence. Mutation trend analysis and antiviral drug susceptibility profiling of A(H1N1)pdm09 viruses is essential for risk assessment of emergent strains and disease management. Objective: To profile genomic signatures and antiviral drug resistance of A(H1N1)pdm09 viruses and to discuss the potential role of mutate...


Patients- and physicians- priorities for improvement: The case of rheumatic dis...

Pereira da Silva, JA; Ramiro, S; Pedro, S; Rodrigues, A; Vasconcelos, JC; Benito-Garcia, E

OBJECTIVES: To compare the health priorities elected by patients with rheumatic diseases and by their attending rheumatologists. PATIENTS AND METHODS: We undertook a cross-sectional study among patients and rheumatologists in Portuguese rheumatology outpatient clinics. 75% of all Portuguese Rheumatology Departments agreed to participate. Rheumatologists from non-participating hospital departments were asked to ...


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