4 documents found, page 1 of 1
Predictors of mortality and neurological dysfunction in cardiac arrest: A retro...
Cabral, Margarida; Castro, Diana; Palavras, Maria João; Santos, Flávia; Sequeira, Filipa; Pereira, Luís; Morais, JoãoObjective: The aim of this study was to identify the mortality rate of cardiac arrest in our insti tution and to determine the association between clinical available variables with early mortality and neurological outcomes. Design, setting, and patients: We performed a ret rospective study including all adult patients with the first diagnosis of “cardiac arrest” admitted to the intensive care unit of a Portugue...
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and C...
Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, RosárioWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance...
Development and Validation of a Mathematical Model to Predict the Complexity of...
Rodrigues, Bárbara; Vale-Fernandes, Emídio; Maia, N; Santos, Flávia; Marques, Isabel; Santos, Rosário; Nogueira, António J. A.; Jorge, PaulaThe polymorphic trinucleotide repetitive region in the FMR1 gene 5'UTR contains AGG interspersions, particularly in normal-sized alleles (CGG < 45). In this range repetitive stretches are typically interrupted once or twice, although alleles without or with three or more AGG interspersions can also be observed. AGG interspersions together with the total length of the repetitive region confer stability and hinde...
Development and validation of a mathematical model to predict the complexity of...
Rodrigues, Bárbara; Vale-Fernandes, Emídio; Maia, Nuno; Santos, Flávia; Marques, Isabel; Santos, Rosário; Nogueira, António J. A.; Jorge, PaulaThe polymorphic trinucleotide repetitive region in the FMR1 gene 5'UTR contains AGG interspersions, particularly in normal-sized alleles (CGG < 45). In this range repetitive stretches are typically interrupted once or twice, although alleles without or with three or more AGG interspersions can also be observed. AGG interspersions together with the total length of the repetitive region confer stability and hinde...