ProfileOfResearchers

Identified 16

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TITLE: Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations
AUTHORS: Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa; Cabral, Joaquim M. S.; Brito, Dulce; Carmo Fonseca, Maria; Martins, Sandra; da Rocha, Simao Teixeira;
PUBLISHED: 2024, SOURCE: STEM CELL RESEARCH, VOLUME: 76

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TITLE: Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation Full Text
AUTHORS: Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa; Cabral, Joaquim M. S.; Brito, Dulce; Carmo Fonseca, Maria; Martins, Sandra; da Rocha, Simao Teixeira;
PUBLISHED: 2024, SOURCE: HUMAN CELL, VOLUME: 37, ISSUE: 4

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TITLE: Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G&gt;A mutation
AUTHORS: Marta Ribeiro; Joanna Jager; Marta Furtado; Teresa Carvalho; Joaquim M.S Cabral; Dulce Brito; Maria Carmo-Fonseca; Sandra Martins; Simão Teixeira da Rocha;
PUBLISHED: 2024

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4

TITLE: Principles of novel cellular and molecular cardiovascular therapeutics
AUTHORS: Marta Furtado; Marta Ribeiro; Sandra Martins; Teresa Carvalho; Carmo Fonseca, M;
PUBLISHED: 2024, SOURCE: Genomic and Molecular Cardiovascular Medicine: a Volume in Genomic and Precision Medicine in Clinical Practice

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5

TITLE: Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy Full Text
AUTHORS: Jager, Joanna; Ribeiro, Marta; Furtado, Marta; Carvalho, Teresa; Syrris, Petros; Lopes, Luis R.; Elliott, Perry M.; Cabral, Joaquim M. S.; Carmo Fonseca, Maria; da Rocha, Simao Teixeira; Martins, Sandra;
PUBLISHED: 2024, SOURCE: STEM CELL RESEARCH, VOLUME: 81

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6

TITLE: Closure to “Conceptual analogy for modelling entrapped air action in hydraulic systems” by Sandra C. Martins, Helena M. Ramos and António B. Almeida
AUTHORS: Sandra C Martins; Helena M Ramos; António B Almeida;
PUBLISHED: 2018, SOURCE: Journal of Hydraulic Research, VOLUME: 56, ISSUE: 4

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TITLE: Pharmacological inhibition of the spliceosome subunit SF3b triggers exon junction complex-independent nonsense-mediated decay
AUTHORS: Carvalho, T; Martins, S; Rino, J; Marinho, S; Carmo Fonseca, M;
PUBLISHED: 2017, SOURCE: Journal of Cell Science, VOLUME: 130, ISSUE: 9

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8

TITLE: Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy
AUTHORS: Rita Mendes de Almeida; Joana Tavares; Sandra Martins; Teresa Carvalho; Francisco J Enguita; Dulce Brito; Maria Carmo-Fonseca; Luís Rocha Lopes;
PUBLISHED: 2017, SOURCE: PLOS ONE, VOLUME: 12, ISSUE: 8

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9

TITLE: Transcription-coupled RNA surveillance in human genetic diseases caused by splice site mutations
AUTHORS: Vaz-Drago, R; Pinheiro, MT; Martins, S; Enguita, FJ; Carmo-Fonseca, M; Custodio, N;
PUBLISHED: 2015, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 10

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10

TITLE: Conceptual analogy for modelling entrapped air action in hydraulic systems
AUTHORS: Sandra C Martins; Helena M Ramos; Antonio B Almeida;
PUBLISHED: 2015, SOURCE: JOURNAL OF HYDRAULIC RESEARCH, VOLUME: 53, ISSUE: 5

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