Onderzoeker
Anabela Santo Ramalho Venâncio
- Disciplines:Laboratoriumgeneeskunde, Palliatieve zorg en zorg rond het levenseinde, Regeneratieve geneeskunde, Andere basiswetenschappen, Andere gezondheidswetenschappen, Verpleegkunde, Andere paramedische wetenschappen, Andere translationele wetenschappen, Andere medische en gezondheidswetenschappen
Affiliaties
- Vrouw en Kind (Afdeling)
Lid
Vanaf22 apr 2014 → Heden
Projecten
1 - 1 of 1
- Neonatele screening voor mucoviscidose: analyse van kwaliteitsprestaties met focus op "CF screen positive inconclusive diagnosis (CFSID)"Vanaf11 sep 2023 → HedenFinanciering: Eigen Middelen zoals patrimonium, inschrijvingsgelden, giften, ....
Publicaties
1 - 8 van 8
- Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor(2023)
Auteurs: Marjolein Ensinck, Anabela Santo Ramalho Venâncio, Marianne Carlon
Pagina's: 1647 - 1660 - Rectal organoid morphology analysis (ROMA) as a promising diagnostic tool in cystic fibrosis(2021)
Auteurs: Senne Cuyx, Anabela Santo Ramalho Venâncio, Steffen Fieuws, Kaline Arnauts, Marc Ferrante, Catherine Verfaillie, Sebastian Munck, Mieke Boon, Marijke Proesmans, Lieven Dupont, et al.
Pagina's: 1146 - 1149 - Author Correction: Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.(2020)
Auteurs: Giulia Maule, Antonio Casini, Claudia Montagna, Anabela Santo Ramalho Venâncio, Kris De Boeck, Zeger Debyser, Marianne Carlon, Gianluca Petris, Anna Cereseto
Pagina's: 5457 - Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids.(2020)
Auteurs: Anabela Santo Ramalho Venâncio
Pagina's: 100019 - Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects(2020)
Auteurs: Marjolein Ensinck, Liesbeth De Keersmaecker, Lise Heylen, Anabela Santo Ramalho Venâncio, Rik Gijsbers, Ricard Farré Marti, Christiane De Boeck, Frauke Christ, Zeger Debyser, Marianne Carlon
Pagina's: 1 - 14 - mRNA-based Detection of Rare CFTR Mutations Improves Genetic Diagnosis of Cystic Fibrosis in Populations with High Genetic Heterogeneity(2017)
Auteurs: Anabela Santo Ramalho Venâncio
Pagina's: 476 - 481 - Human intestinal epithelium in a dish: Current models for research into gastrointestinal pathophysiology(2017)
Auteurs: Manuel Noben, Wiebe Vanhove, Kaline Arnauts, Anabela Santo Ramalho Venâncio, Gert Van Assche, Séverine Vermeire, Catherine Verfaillie, Marc Ferrante
Pagina's: 1073 - 1081 - Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations(2016)
Auteurs: Anabela Santo Ramalho Venâncio
Pagina's: 21 - 33