2 documents found, page 1 of 1
Mitochondrial Alterations in Fibroblasts of Early Stage Bipolar Disorder Patients
Marques, Ana P.; Resende, Rosa; Silva, Diana F.; Batista, Mariana; Pereira, Daniela; Wildenberg, Brigite; Morais, Sofia; Macedo, António; Pais, ClaudiaThis study aims to evaluate whether mitochondrial changes occur in the early stages of bipolar disorder (BD). Using fibroblasts derived from BD patients and matched controls, the levels of proteins involved in mitochondrial biogenesis and dynamics (fission and fusion) were evaluated by Western Blot analysis. Mitochondrial membrane potential (MMP) was studied using the fluorescent probe TMRE. Mitochondrial morph...
Copy number variants prioritization after array-CGH analysis - a cohort of 1000...
Carreira, Isabel Marques; Ferreira, Susana Isabel; Matoso, Eunice; Pires, Luís Miguel; Ferrão, José; Jardim, Ana; Mascarenhas, Alexandra; Pinto, MartaBackground: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria wh...