ProfileOfResearchers

TITLE: Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR
AUTHORS: Silveira, C; Sousa, AC; Janeiro, A; Malveiro, S; Teixeira, E; Brysch, E; Pantarotto, M; Felizardo, M; Madureira, R; Nogueira, F; Guimaraes, C; Matos, C; Canario, D; Bruges Armas, J; Carmo Fonseca, M ;
PUBLISHED: 2021, SOURCE: TRANSLATIONAL LUNG CANCER RESEARCH, VOLUME: 10, ISSUE: 3

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TITLE: Detection of epidermal growth factor receptor (EGFR) mutations from preoperative circulating tumor DNA (ctDNA) as a prognostic predictor for stage I-III non-small cell lung cancer (NSCLC) patients with baseline tissue EGFR mutations
AUTHORS: Guo, K; Shao, CJ; Han, L; Liu, HG; Ma, ZQ; Yang, Y; Feng, YT; Pan, MH; Santarpia, M; Carmo Fonseca, M ; Silveira, C; Lee, KY; Han, J; Li, XF; Yan, XL;
PUBLISHED: 2021, SOURCE: TRANSLATIONAL LUNG CANCER RESEARCH, VOLUME: 10, ISSUE: 7

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TITLE: Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA
AUTHORS: Silva, TP; Pereira, CA; Oliveira, AR; Raposo, AC; Arez, M; Cabral, JMS; Milagre, I; Carmo Fonseca, M ; da Rocha, ST;
PUBLISHED: 2021, SOURCE: STEM CELL RESEARCH, VOLUME: 52

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TITLE: Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation Full Text
AUTHORS: Silva, TP; Pereira, CA; Raposo, AC; Oliveira, AR; Arez, M; Cabral, JMS; Milagre, I; Carmo Fonseca, M ; da Rocha, ST;
PUBLISHED: 2021, SOURCE: STEM CELL RESEARCH, VOLUME: 53

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TITLE: POINT technology illuminates the processing of polymerase-associated intact nascent transcripts
AUTHORS: Sousa Luís, R; Dujardin, G; Zukher, I; Kimura, H; Weldon, C; Carmo Fonseca, M ; Proudfoot, NJ; Nojima, T;
PUBLISHED: 2021, SOURCE: Molecular Cell, VOLUME: 81, ISSUE: 9

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TITLE: Transcriptome profiling of human pluripotent stem cell-derived cerebellar organoids reveals faster commitment under dynamic conditions
AUTHORS: Teresa P Silva; Rui Sousa-Luís; Tiago G Fernandes; Evguenia P Bekman; Carlos A V Rodrigues; Sandra H Vaz; Leonilde M Moreira; Yas Hashimura; Sunghoon Jung; Brian Lee; Maria Carmo-Fonseca ; Joaquim M S Cabral;
PUBLISHED: 2021

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TITLE: Cryptic Splice-Altering Variants inMYBPC3Are a Prevalent Cause of Hypertrophic Cardiomyopathy
AUTHORS: Lopes, LR; Barbosa, P; Torrado, M; Quinn, E; Merino, A; Ochoa, JP; Jager, J; Futema, M; Carmo Fonseca, M ; Monserrat, L; Syrris, P; Elliott, PM;
PUBLISHED: 2020, SOURCE: CIRCULATION-GENOMIC AND PRECISION MEDICINE, VOLUME: 13, ISSUE: 3

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