3 documents found, page 1 of 1
Detection and quantification of EGFR T790M mutation in liquid biopsies by dropl...
Silveira, Catarina; Sousa, Ana Carla; Janeiro, André; Malveiro, Sara; Teixeira, Encarnação; Brysch, Eva; Pantarotto, Marcos; Felizardo, MargaridaBackground: Liquid biopsy allows the identification of targetable cancer mutations in a minimally invasive manner. In patients with advanced non-small cell lung cancer (NSCLC), droplet digital PCR (ddPCR) is increasingly used to genotype the epidermal growth factor receptor (EGFR) gene in circulating cell-free DNA (cfDNA). However, the sensitivity of this method is still under debate. The aim of this study was ...
Disruption of NUBPL due to balanced translocation [t(3;14) (q26.33;q14)] increa...
David, Dezső; Haltrich, Iren; Marques, Barbara; Fernandes, Cristina; Malveiro, Sara; Fekete, GyörgyAn intriguing group of familiar translocations are those which not always segregate with the “associated” disorder. Here we report the genetic alterations underlying a clinical phenotype characterized by haemolytic anemia and neuro-myopathy, seemingly associated with the familial translocation [t(3;14)(3q26.33;q14)]. Two affected probands and two unaffected relatives have been identified as carriers of this tra...
Disruption of NUBPL due to balanced translocation [t(3;14)(q26.33;q14)] increas...
David, Dezső; Haltrich, Iren; Marques, Barbara; Fernandes, Catarina; Malveiro, Sara; Fekete, GyörgyAn intriguing group of familiar translocations are those which not always segregate with the “associated” disorder. Here we report the genetic alterations underlying a clinical phenotype characterized by haemolytic anemia and neuro-myopathy, seemingly associated with the familial translocation [t(3;14)(3q26.33;q14)]. Two affected probands and two unaffected relatives have been identified as carriers of this tra...