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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: 9
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TITLE: Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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TITLE: Clinical characteristics, risk factors and outcomes in patients with severe COVID-19 registered in the International Severe Acute Respiratory and Emerging Infection Consortium WHO clinical characterisation protocol: a prospective, multinational, multicentre, observational study
AUTHORS: Felipe Reyes, Luis; Murthy, Srinivas; Garcia Gallo, Esteban; Irvine, Mike; Merson, Laura; Martin Loeches, Ignacio; Rello, Jordi; Taccone, Fabio S.; Fowler, Robert A.; Docherty, Annemarie B.; Kartsonaki, Christiana; Aragao, Irene; Barrett, Peter W.; Beane, Abigail; Burrell, Aidan; Cheng, Matthew Pellan; Christian, Michael D.; Cidade, Jose Pedro; Citarella, Barbara Wanjiru; Donnelly, Christl A.; Fernandes, Susana M.; French, Craig; Haniffa, Rashan; Harrison, Ewen M.; Ho, Antonia Ying Wai; Joseph, Mark; Khan, Irfan; Kho, Michelle E.; Kildal, Anders Benjamin; Kutsogiannis, Demetrios; Lamontagne, Francois; Lee, Todd C.; Li Bassi, Gianluigi; Lopez Revilla, Jose Wagner; Marquis, Catherine; Millar, Jonathan; Neto, Raul; Nichol, Alistair; Parke, Rachael; Pereira, Rui; Poli, Sergio; Povoa, Pedro; Ramanathan, Kollengode; Rewa, Oleksa; Riera, Jordi; Shrapnel, Sally; Silva, Maria Joao; Udy, Andrew; Uyeki, Timothy; Webb, Steve A.; Wils, Evert Jan; Rojek, Amanda; Olliaro, Piero L.; ...More
PUBLISHED: 2022, SOURCE: ERJ OPEN RESEARCH, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Rationale, design and methodology of APPROACH-IS II: International study of patient-reported outcomes and frailty phenotyping in adults with congenital heart disease  Full Text
AUTHORS: Van Bulck, Liesbet; Kovacs, Adrienne H.; Goossens, Eva; Luyckx, Koen; Zaidi, Ali; Wang, Jou Kou; Yadeta, Dejuma; Windram, Jonathan; Van De Bruaene, Alexander; Thomet, Corina; Thambo, Jean Benoit; Taunton, Marshall; Sasikumar, Navaneetha; Sandberg, Camilla; Saidi, Arwa; Rutz, Tobias; Ortiz, Lucia; Mwita, Julius Chacha; Moon, Ju Ryoung; Menahem, Samuel; Mattsson, Eva; Mandalenakis, Zacharias; Mahadevan, Vaikom S.; Lykkeberg, Birgitte; Leye, Mohamed; Leong, Ming Chern; Ladouceur, Magalie; Ladak, Laila Akbar; Kim, Yuli; Khairy, Paul; Kaneva, Anna; Johansson, Bengt; Jackson, Jamie L.; Giannakoulas, George; Gabriel, Harald; Fernandes, Susan M.; Enomoto, Junko; Demir, Fatma; de Hosson, Michele; Constantine, Andrew; Coats, Louise; Christersson, Christina; Cedars, Ari; Caruana, Maryanne; Callus, Edward; Brainard, Sarah; Bouchardy, Judith; Boer, Anna; Reyes, Fernando Baraona; Areias, Maria Emilia ; Araujo, John Jairo; Andresen, Brith; Amedro, Pascal; Ambassa, Jean Claude; Amaral, Fernando; Alday, Luis; Moons, Philip; ...More
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF CARDIOLOGY, VOLUME: 363
INDEXED IN: Scopus 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: 7
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TITLE: Antimicrobial activity of glycolic acid and glyoxal against Bacillus cereus and Pseudomonas fluorescens  Full Text
AUTHORS: Susana Fernandes; Ines B Gomes; Manuel Simoes;
PUBLISHED: 2020, SOURCE: FOOD RESEARCH INTERNATIONAL, VOLUME: 136
INDEXED IN: Scopus WOS
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