61
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
INDEXED IN: Scopus WOS CrossRef
64
TITLE: CFTR biomarkers: time for promotion to surrogate end-point?  Full Text
AUTHORS: De Boeck, K; Kent, L; Davies, J; Derichs, N; Amaral, M ; Rowe, SM; Middleton, P; de Jonge, H; Bronsveld, I; Wilschanski, M; Melotti, P; Danner Boucher, I; Boerner, S; Fajac, I; Southern, K; de Nooijer, RA; Bot, A; de Rijke, Y; de Wachter, E; Leal, T; Vermeulen, F; Hug, MJ; Rault, G; Nguyen Khoa, T; Barreto, C; Proesmans, M; Sermet Gaudelus, I; ...More
PUBLISHED: 2013, SOURCE: EUROPEAN RESPIRATORY JOURNAL, VOLUME: 41, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
65
TITLE: CFTR mutations altering CFTR fragmentation
AUTHORS: Kendra Tosoni; Michelle Stobbart; Diane M Cassidy; Andrea Venerando; Mario A Pagano; Simao Luz ; Margarida D Amaral ; Karl Kunzelmann ; Lorenzo A Pinna; Carlos M Farinha ; Anil Mehta;
PUBLISHED: 2013, SOURCE: BIOCHEMICAL JOURNAL, VOLUME: 449, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
66
TITLE: Changes in transcriptome of native nasal epithelium expressing F508del-CFTR and intersecting data from comparable studies  Full Text
AUTHORS: Clarke, LA ; Sousa, L ; Barreto, C; Amaral, MD ;
PUBLISHED: 2013, SOURCE: RESPIRATORY RESEARCH, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
68
TITLE: Control of TMEM16A by INO-4995 and other inositolphosphates. Activation of TMEM16A by INO-4995  Full Text
AUTHORS: Yuemin M Tian; Rainer Schreiber; Podchanart Wanitchakool; Patthara Kongsuphol; Marisa Sousa; Inna Uliyakina; Marta Palma; Diana Faria; Alexis E Traynor Kaplan; Jose I Fragata ; Margarida D Amaral ; Karl Kunzelmann ;
PUBLISHED: 2013, SOURCE: BRITISH JOURNAL OF PHARMACOLOGY, VOLUME: 168, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
69
TITLE: Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene  Full Text
AUTHORS: Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui H Yu; Neeraj Sharma; Anabela S Ramalho ; Margarida D Amaral ; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting; ...More
PUBLISHED: 2013, SOURCE: NATURE GENETICS, VOLUME: 45, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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