5 documents found, page 1 of 1
Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk...
Matos, S; Bernardo, P; Esteves, S; Botelho de Sousa, A; Lemos, M; Ribeiro, P; Silva, M; Nunes, A; Lobato, J; Frade, MJ; Gomes da Silva, M; Chacim, SAlthough mutation profiling of defined genes is recommended for classification of acute myeloid leukemia (AML) patients, screening of targeted gene panels using next-generation sequencing (NGS) is not always routinely used as standard of care. The objective of this study was to prospectively assess whether extended molecular monitoring using NGS adds clinical value for risk assessment in real-world AML patients...
Ferida crónica em pé diabético: abordagem multidisciplinar
Honório, M; Matos, S
Boletim do ostomizado: veículo de comunicação vs responsabilização
Honório, M; Matos, S; Oliveira, D; Santo, M; Tavares, S
Consulta de estomaterapia: funcionamento e organização
Oliveira, D; Honório, M; Matos, S; Tavares, S
Uma variante do gene WNK4 está associada à osteoporose mas não à hipertensão na...
Mendes, A.I.; Mascarenhas, M.R.; Matos, S; Sousa, I; Ferreira, J; Barbosa, A.P.; Bicho, M; Jordan, P.Germline mutations in the WNK4 gene originate Gordon syndrome or pseudohypoaldosteronism type II, a familial form of hypertension with hyperkalemia and hypercalciuria. The WNK4 protein encodes a protein kinase involved in the regulation of various renal ion channels. In order to elucidate the contribution of WNK4 genetic variants to hypertension and/or osteoporosis, we analyzed 271 control individuals and a coh...