A protocol for karyotyping and genetic editing of induced pluripotent stem cells with homology-directed repair mediated CRISPR/Cas9
(odnośnik otworzy się w nowym oknie)
Autorzy:
Silvana Lobo; Rita Barbosa-Matos; Sofia Dória; Ana Maria Pedro; Ana Brito; Daniel Ferreira; Carla Oliveira
Opublikowane w:
Biology Methods and Protocols, 2025, ISSN 2396-8923
Wydawca:
Oxford Academic
DOI:
10.5281/ZENODO.19560851
Behavioural analysis of referral and uptake of care pathways for rare tumour risk syndromes: A cross-cultural mixed-methods study protocol within the PREVENTABLE project
(odnośnik otworzy się w nowym oknie)
Autorzy:
Ana Machado; Maiara Moreto; Isabel Fernandes; Ana Maria Rodrigues; Bárbara Peleteiro; Joan Brunet; Judith Balmaña; Claude Houdayer; Jean-Christophe Thery; Janneke H.M. Schuurs-Hoeijmakers; Stefan Aretz; Cathrine Bjorvatn; Liliana Sousa; Sara Pereira; Carla Oliveira; Marta M. Marques
Opublikowane w:
Open Research Europe, 2025, ISSN 2732-5121
Wydawca:
F1000 Research Ltd
DOI:
10.5281/ZENODO.19554868
Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls
(odnośnik otworzy się w nowym oknie)
Autorzy:
Silvana Lobo, Alexandre Dias, Ana Maria Pedro, Marta Ferreira, André Pinto-Oliveira, Celina São José, Jennifer Herrera-Mullar, Nádia Pinto, Chrystelle Colas, Robert Hüneburg, Jacob Nattermann, Lise Boussemart, Liselotte P van Hest, Leticia Moreira, Carolyn Horton, Dana Farengo Clark, Sigrid Tinschert, Lisa Golmard, Isabel Spier, Adriá López-Fernández, Daniela Oliveira, Magali SVRCEK, Pierre Bourgoin, Florence Coulet, Hélène Delhomelle, Jeremy Davis, Birthe Zäncker, Conxi Lazaro, Joana Guerra, Maria L Almeida, Sergio Carrera, Ana Patiño, Paul Gundlach, Monika Laszkowska, Vivian E Strong, Manuel R Teixeira, Intan Schrader, Verena Steinke-Lange, Irene Gullo, Sérgio Sousa, Manuela Batista, Stefan Aretz, Judith Balmaña, Melyssa Aronson, Augusto Perazzolo Antoniazzi, Edenir I Palmero, Paul Mansfield, Lizet E van der Kolk, Annemieke Cats, Jolanda M van Dieren, Sergi Castellví-Bel, Bryson Katona, Rachid Karam, Paulo S Pereira, Patrick R Benusiglio, Carla Oliveira
Opublikowane w:
Gut, 2025, ISSN 0017-5749
Wydawca:
BMJ
DOI:
10.1136/GUTJNL-2024-334601