4 documents found, page 1 of 1
Design and Implementation of a Collaborative Clinical Practice and Research Doc...
Direito, B; Santos, A; Mouga, S; Lima, J; Brás, P; Oliveira, G; Castelo-Branco, MThis paper introduces a prototype for clinical research documentation using the structured information model HL7 CDA and clinical terminology (SNOMED CT). The proposed solution was integrated with the current electronic health record system (EHR-S) and aimed to implement interoperability and structure information, and to create a collaborative platform between clinical and research teams. The framework also aim...
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, CT; Conceição, IC; Oliveira, B; Coelho, J; Sousa, I; Sequeira, AF; Almeida, J; Café, C; Duque, F; Mouga, S; Roberts, W; Gao, K; Lowe, JKBACKGROUND: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. ...
Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology
Correia, F; Café, C; Almeida, J; Mouga, S; Oliveira, GAutism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an...
A Direct Comparison of Local-Global Integration in Autism and other Development...
Bernardiono, I; Mouga, S; Almeida, J; van Asselen, M; Oliveira, GThe weak central coherence hypothesis represents one of the current explanatory models in Autism Spectrum Disorders (ASD). Several experimental paradigms based on hierarchical figures have been used to test this controversial account. We addressed this hypothesis by testing central coherence in ASD (n = 19 with intellectual disability and n = 20 without intellectual disability), Williams syndrome (WS, n = 18), ...