Anabela Santo Ramalho Venâncio
AuthID: R-000-1ME
1
TITLE: Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis Full Text
AUTHORS: Bierlaagh, Marlou C.; Ramalho, Anabela S.; Silva, Iris A. L.; Vonk, Annelotte M.; van den Bor, Rutger M.; van Mourik, Peter; Pott, Johanna; Suen, Sylvia W. F.; Boj, Sylvia F.; Vries, Robert G. J.; Lammertyn, Elise; Vermeulen, Francois; Amaral, Margarida D.; de Boeck, Kris; van der Ent, Cornelis K.; Beekman, Jeffrey M.;
PUBLISHED: 2024, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 23, ISSUE: 4
AUTHORS: Bierlaagh, Marlou C.; Ramalho, Anabela S.; Silva, Iris A. L.; Vonk, Annelotte M.; van den Bor, Rutger M.; van Mourik, Peter; Pott, Johanna; Suen, Sylvia W. F.; Boj, Sylvia F.; Vries, Robert G. J.; Lammertyn, Elise; Vermeulen, Francois; Amaral, Margarida D.; de Boeck, Kris; van der Ent, Cornelis K.; Beekman, Jeffrey M.;
PUBLISHED: 2024, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 23, ISSUE: 4
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis Full Text
AUTHORS: Cuyx, Senne; Ramalho, Sofia S.; Callebaut, Isabelle; Cuppens, Harry; Kmit, Arthur; Arnauts, Kaline; Ferrante, Marc; Verfaillie, Catherine; Ensinck, Marjolein; Carlon, Marianne S.; Boon, Mieke; Proesmans, Marijke; Dupont, Lieven; De Boeck, Kris; Farinha, Carlos M.; Vermeulen, Francois; Ramalho, Anabela S.;
PUBLISHED: 2022, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 21, ISSUE: 4
AUTHORS: Cuyx, Senne; Ramalho, Sofia S.; Callebaut, Isabelle; Cuppens, Harry; Kmit, Arthur; Arnauts, Kaline; Ferrante, Marc; Verfaillie, Catherine; Ensinck, Marjolein; Carlon, Marianne S.; Boon, Mieke; Proesmans, Marijke; Dupont, Lieven; De Boeck, Kris; Farinha, Carlos M.; Vermeulen, Francois; Ramalho, Anabela S.;
PUBLISHED: 2022, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 21, ISSUE: 4
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations Full Text
AUTHORS: Anabela S Ramalho; Luka A Clarke; Marisa Sousa; Veronica Felicio; Celeste Barreto; Carlos Lopes; Margarida D Amaral;
PUBLISHED: 2016, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 15, ISSUE: 1
AUTHORS: Anabela S Ramalho; Luka A Clarke; Marisa Sousa; Veronica Felicio; Celeste Barreto; Carlos Lopes; Margarida D Amaral;
PUBLISHED: 2016, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 15, ISSUE: 1
4
TITLE: Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions Full Text
AUTHORS: Neeraj Sharma; Patrick R Sosnay; Anabela S Ramalho; Christopher Douville; Arianna Franca; Laura B Gottschalk; Jeenah Park; Melissa Lee; Briana Vecchio Pagan; Karen S Raraigh; Margarida D Amara; Rachel Karchin; Garry R Cutting;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 10
AUTHORS: Neeraj Sharma; Patrick R Sosnay; Anabela S Ramalho; Christopher Douville; Arianna Franca; Laura B Gottschalk; Jeenah Park; Melissa Lee; Briana Vecchio Pagan; Karen S Raraigh; Margarida D Amara; Rachel Karchin; Garry R Cutting;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 10
5
TITLE: FROM THE BASIC DEFECT TO THERAPY: FUNCTIONAL CLASSIFICATION OF CFTR MUTATIONS BASED ON MRNA, PROTEIN AND FUNCTIONAL ANALYSES Full Text
AUTHORS: Ramalho, AS; Felicio, V; Igreja, S; Amaral, MD;
PUBLISHED: 2012, SOURCE: PEDIATRIC PULMONOLOGY, VOLUME: 47
AUTHORS: Ramalho, AS; Felicio, V; Igreja, S; Amaral, MD;
PUBLISHED: 2012, SOURCE: PEDIATRIC PULMONOLOGY, VOLUME: 47
INDEXED IN: WOS
WOS6
TITLE: Unpredictable alteration of CFTR MRNA splicing in native tissues from CIT patients caused by a missense mutation (11234v)
AUTHORS: Ramalho, AS; Amaral, MD;
PUBLISHED: 2007, SOURCE: PEDIATRIC PULMONOLOGY
AUTHORS: Ramalho, AS; Amaral, MD;
PUBLISHED: 2007, SOURCE: PEDIATRIC PULMONOLOGY
INDEXED IN: WOS
WOS