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TITLE: Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 20
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TITLE: When the Conception of Symmetry Deceives Us: A Case Report on the Perioperative Diagnosis of Subclavian Artery Stenosis
AUTHORS: Adams, Mariana; Sousa, Cristina P.; Duarte, Sonia; Machado, Humberto;
PUBLISHED: 2023, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 15, ISSUE: 11
INDEXED IN: WOS
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TITLE: Elderly diabetic and non-diabetic patients in Portuguese RNCCI Convalescence Units: Are they different?
AUTHORS: Mendes, Rosa; Martins, Sonia; Ferreira, Ana Rita ; Fernandes, Lia ;
PUBLISHED: 2023, SOURCE: INTERNATIONAL PSYCHOGERIATRICS, VOLUME: 35, ISSUE: S1
INDEXED IN: WOS CrossRef Unpaywall
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TITLE: Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
AUTHORS: Garcia Pelaez, J; Barbosa Matos, R; Jose, CS; Sousa, S; Gullo, I ; Hoogerbrugge, N; Carneiro, F ; Oliveira, C;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Wet Mount Microscopy of the Vaginal Milieu Does Not Predict the Outcome of Fertility Treatments: A Cross-sectional Study. A Cross-sectional Study
AUTHORS: Vieira Baptista, Pedro ; Silva Soares, Sandra; Lyra, Joana; Falcao, Vera; Povoa, Ana Margarida ; Calejo, Lucinda; Sousa, Sonia;
PUBLISHED: 2022, SOURCE: JOURNAL OF LOWER GENITAL TRACT DISEASE, VOLUME: 26, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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TITLE: THE FIRST CDH1 FOUNDER VARIANT IN THE PORTUGUESE POPULATION: A MISSENSE WITH SEVERE IMPACT IN MRNA SPLICING  Full Text
AUTHORS: Barbosa Matos, Rita; Silva, Rafaela Leal; Garrido, Luzia; Aguiar, Ana Cerqueira; Garcia Pelaez, Jose; Andre, Ana; Seixas, Susana; Sousa, Sonia Passos; Ferro, Luisa; Vilarinho, Lucia; Gullo, Irene; Devezas, Vitor; Oliveira, Renata; Fernandes, Susana; Costa, Susy Cabral ; Magalhaes, Andre; Baptista, Manuela; Carneiro, Fatima; Pinheiro, Hugo; Castedo, Sergio; Oliveira, Carla; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing  Full Text
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; Oliveira, C; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
INDEXED IN: Scopus WOS CrossRef: 8
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TITLE: Patient and Public Involvement in Youth Mental Health Research: Protocol for a Systematic Review of Practices and Impact  Full Text
AUTHORS: Sales, Celia M. D.; Martins, Filipa ; Alves, Marisa M.; Carletto, Sara; Conejo Ceron, Sonia; da Silva, Luis Costa; Cus, Anja; Edridge, Chloe; Ferreira, Nuno; Hancheva, Camellia; Lima, Esperanca M. A.; Liverpool, Shaun; Midgley, Nick; Moltrecht, Bettina; Moreno Peral, Patricia; Morgan, Nicholas; Mortimer, Rose; Mota, Catarina Pinheiro; Pietrabissa, Giada; Sousa, Sonia; Ulberg, Randi; Edbrooke Childs, Julian; ...More
PUBLISHED: 2021, SOURCE: FRONTIERS IN PSYCHOLOGY, VOLUME: 12
INDEXED IN: Scopus WOS CrossRef: 8
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TITLE: The bigger the better? Evaluation of the value of large multi-gene panels in Portuguese cardiomyopathy genetic testing  Full Text
AUTHORS: Marcia Baixia; Sonia Sousa; Maria J Pina; Raquel M Silva; Luis Cirnes ; Paulo Canedo; Sergio Castedo; Jose C Machado;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
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