ProfileOfResearchers

TITLE: Mutational spectrum of genes related to hereditary neuropathies - data from a molecular diagnostics laboratory Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Ferreira, Rita Bastos; Morais, Sara; Sa, Joana; Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31

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TITLE: Genetic analysis in a large cohort of patients with hereditary spastic paraplegia: diagnostic challenges
AUTHORS: Morais, Sara; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Sousa, Susana; Silva, Paulo; Lopes, Fatima; Lopes, Alexandra; Damasio, Joana; Loureiro, Jose Leal; Magalhaes, Marina; Leao, Miguel; Costa, Cristina; Mare, Ricardo; Sequeiros, Jorge; Freixo, Joao Parente; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: A Case of Recurrent Idiopathic Pyoderma Gangrenosum
AUTHORS: David, Filipa; Freitas, Rafaela Lopes; Bras Cruz, Rute; Rocha, Joana; Rosario, Cristina;
PUBLISHED: 2022, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 14, ISSUE: 5

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TITLE: Make the World Yours! Arts-Based Research in Action in the Cerco do Porto Neighbourhood
AUTHORS: Guerra, P; Sousa, S; Lopes, R;
PUBLISHED: 2022, SOURCE: Urban Book Series

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Scopus

TITLE: Genetic Variation in PFKFB3 Impairs Antifungal Immunometabolic Responses and Predisposes to Invasive Pulmonary Aspergillosis Full Text
AUTHORS: Goncalves, SM; Antunes, D; Leite, L; Mercier, T; ter Horst, R; Vieira, J; Espada, E; Vaz, CP; Branca, R; Campilho, F; Freitas, F; Ligeiro, D; Marques, A; Veerdonk, FLV; Joosten, LAB; Lagrou, K; Maertens, J; Netea, MG; Lacerda, JF; Campos, A; Cunha, C; Carvalhoa, A; ...More
PUBLISHED: 2021, SOURCE: MBIO, VOLUME: 12, ISSUE: 3

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TITLE: How costly are metacercarial infections in a bivalve host? Effects of two trematode species on biochemical performance of cockles Full Text
AUTHORS: Luisa Magalhaes; Rosa Freitas; Xavier de Montaudouin;
PUBLISHED: 2020, SOURCE: JOURNAL OF INVERTEBRATE PATHOLOGY, VOLUME: 177

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TITLE: Ficopomatus enigmaticus larval development assay: An application for toxicity assessment of marine sediments Full Text
AUTHORS: Oliva, M; Manzini, C; Bonta B Pittaluga; Kozinkova, L; De Marchi, L; Freitas, R; Fabi, G; Pretti, C;
PUBLISHED: 2019, SOURCE: MARINE POLLUTION BULLETIN, VOLUME: 139

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TITLE: BIALLELIC DNAJC21 MUTATIONS CAUSE BONE MARROW FAILURE SYNDROME 3: A NEW RIBOSOMOPATHY OR TELOMEROPATHY? HOW ABOUT BOTH ... Full Text
AUTHORS: D'Amours, G; Lopes, F; Gauthier, J; Saillour, V; Nassif, C; Wynn, R; Alos, N; Leblanc, T; Capri, Y; Nizard, S; Lemyre, E; Michaud, JL; Pelletier, VA; Pastore, YD; Soucy, JF;
PUBLISHED: 2019, SOURCE: 39th Annual David W Smith Workshop on Malformations and Morphogenesis in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 179, ISSUE: 4

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TITLE: Seasonal and spatial alterations in macrofaunal communities and in Nephtys cirrosa (Polychaeta) oxidative stress under a salinity gradient: A comparative field monitoring approach Full Text
AUTHORS: Luisa Magalhaes; Adilia Pires; Calla Velez; Roberto Martins; Etelvina Figueira; Amadeu M V M Soares; Rosa Freitas;
PUBLISHED: 2019, SOURCE: ECOLOGICAL INDICATORS, VOLUME: 96

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TITLE: Effects of copper on larvae of the marbled crab Pachygrapsus marmoratus (Decapoda, Grapsidae): Toxicity test and biochemical marker responses
AUTHORS: Oliva, M; De Marchi, L; Cuccaro, A; Casu, V; Tardelli, F; Monni, G; Freitas, R; Caliani, I; Fossi, MC; Fratini, S; Baratti, M; Pretti, C;
PUBLISHED: 2019, SOURCE: COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-TOXICOLOGY & PHARMACOLOGY, VOLUME: 223

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