Margarida Sofia Pereira Duarte Amaral
AuthID: R-000-AER
41
TITLE: mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity
AUTHORS: Felicio, V; Ramalho, AS; Igreja, S; Amaral, MD;
PUBLISHED: 2017, SOURCE: CLINICAL GENETICS, VOLUME: 91, ISSUE: 3
AUTHORS: Felicio, V; Ramalho, AS; Igreja, S; Amaral, MD;
PUBLISHED: 2017, SOURCE: CLINICAL GENETICS, VOLUME: 91, ISSUE: 3
42
TITLE: CFTR3: PERSONALISED CHARACTERISATION OF RARE CYSTIC FIBROSIS GENOTYPES Full Text
AUTHORS: Muehlbacher, V; Amaral, MD; Beekman, JM; Bronsveld, I; Castellani, C; de Jonge, HR; Dewachter, E; Naehrlich, L; Sermet Gaudelus, I; Wilschanski, M; Derichs, N;
PUBLISHED: 2017, SOURCE: PEDIATRIC PULMONOLOGY, VOLUME: 52
AUTHORS: Muehlbacher, V; Amaral, MD; Beekman, JM; Bronsveld, I; Castellani, C; de Jonge, HR; Dewachter, E; Naehrlich, L; Sermet Gaudelus, I; Wilschanski, M; Derichs, N;
PUBLISHED: 2017, SOURCE: PEDIATRIC PULMONOLOGY, VOLUME: 52
INDEXED IN: 
WOS
WOS43
TITLE: Biobanking: towards increased access of biomaterials in cystic fibrosis. Report on the pre-conference meeting to the 13th ECFS Basic Science Conference, Pisa, 30 March-2 April, 2016
AUTHORS: Beekman, JM; Wang, CM; Casati, S; Tuggle, KL; Gulmans, VAM; Amaral, M; De Boeck, K;
PUBLISHED: 2017, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 16, ISSUE: 5
AUTHORS: Beekman, JM; Wang, CM; Casati, S; Tuggle, KL; Gulmans, VAM; Amaral, M; De Boeck, K;
PUBLISHED: 2017, SOURCE: JOURNAL OF CYSTIC FIBROSIS, VOLUME: 16, ISSUE: 5
44
TITLE: Determination of 54 pesticides in waters of the Iberian Douro River estuary and risk assessment of environmentally relevant mixtures using theoretical approaches and Artemia salina and Daphnia magna bioassays Full Text
AUTHORS: Cruzeiro, C ; Amaral, S; Rocha, Eduardo ; Rocha MJ ;
PUBLISHED: 2017, SOURCE: ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY, VOLUME: 145
AUTHORS: Cruzeiro, C ; Amaral, S; Rocha, Eduardo ; Rocha MJ ;
PUBLISHED: 2017, SOURCE: ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY, VOLUME: 145
45
TITLE: Modulation of protein traffic networks to rescue F508del-CFTR from the endoplasmic reticulum Full Text
AUTHORS: Canato, S; Carvalho, AS; Botelho, HM; Aloria, K; Matthiesen, R; Amaral, MD; Falcao, A; Farinha, CM;
PUBLISHED: 2017, SOURCE: 42nd Congress of the Federation-of-European-Biochemical-Societies (FEBS) on From Molecules to Cells and Back in FEBS JOURNAL, VOLUME: 284
AUTHORS: Canato, S; Carvalho, AS; Botelho, HM; Aloria, K; Matthiesen, R; Amaral, MD; Falcao, A; Farinha, CM;
PUBLISHED: 2017, SOURCE: 42nd Congress of the Federation-of-European-Biochemical-Societies (FEBS) on From Molecules to Cells and Back in FEBS JOURNAL, VOLUME: 284
INDEXED IN: WOS
WOS46
TITLE: Ethnicity impacts the cystic fibrosis diagnosis: A note of caution
AUTHORS: Barbara Bosch; Diana Bilton; Patrick Sosnay; Karen S Raraigh; Denise Y F Mak; Hiroshi Ishiguro; Vincent Gulmans; Muriel Thomas; Harry Cuppens; Margarida Amaral; Kris De Boeck;
PUBLISHED: 2017, SOURCE: Journal of Cystic Fibrosis, VOLUME: 16, ISSUE: 4
AUTHORS: Barbara Bosch; Diana Bilton; Patrick Sosnay; Karen S Raraigh; Denise Y F Mak; Hiroshi Ishiguro; Vincent Gulmans; Muriel Thomas; Harry Cuppens; Margarida Amaral; Kris De Boeck;
PUBLISHED: 2017, SOURCE: Journal of Cystic Fibrosis, VOLUME: 16, ISSUE: 4
47
TITLE: Sweat test and cystic fibrosis: Overview of test performance at public and private centers in the state of São Paulo, Brazil
AUTHORS: Maria Fátima Servidoni; Carla Cristina Souza Gomez; Fernando Augusto Lima Marson; Adyléia Aparecida Dalbo Contrera Toro; Maria Ângela Gonçalves de Oliveira Ribeiro; José Dirceu Ribeiro; Antônio Fernando Ribeiro; Francisco Ubaldo Vieira Junior; Margarida Duarte Amaral; Neiva Damaceno; Joaquim Carlos Rodrigues; Giesela Fleischer Ferrari; Vera Lucia Sdepanian; João Batista Salomão Junior; Sônia Mayumi Chiba; Sônia Letícia Silva Lorena; Maria Inêz Machado Fernandes;
PUBLISHED: 2017, SOURCE: Jornal Brasileiro de Pneumologia, VOLUME: 43, ISSUE: 2
AUTHORS: Maria Fátima Servidoni; Carla Cristina Souza Gomez; Fernando Augusto Lima Marson; Adyléia Aparecida Dalbo Contrera Toro; Maria Ângela Gonçalves de Oliveira Ribeiro; José Dirceu Ribeiro; Antônio Fernando Ribeiro; Francisco Ubaldo Vieira Junior; Margarida Duarte Amaral; Neiva Damaceno; Joaquim Carlos Rodrigues; Giesela Fleischer Ferrari; Vera Lucia Sdepanian; João Batista Salomão Junior; Sônia Mayumi Chiba; Sônia Letícia Silva Lorena; Maria Inêz Machado Fernandes;
PUBLISHED: 2017, SOURCE: Jornal Brasileiro de Pneumologia, VOLUME: 43, ISSUE: 2
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID48
TITLE: Epithelial Chloride Transport by CFTR Requires TMEM16A
AUTHORS: Roberta Benedetto; Jiraporn Ousingsawat; Podchanart Wanitchakool; Yong Zhang; Michael J Holtzman; Margarida Amaral; Jason R Rock; Rainer Schreiber; Karl Kunzelmann;
PUBLISHED: 2017, SOURCE: Scientific Reports, VOLUME: 7, ISSUE: 1
AUTHORS: Roberta Benedetto; Jiraporn Ousingsawat; Podchanart Wanitchakool; Yong Zhang; Michael J Holtzman; Margarida Amaral; Jason R Rock; Rainer Schreiber; Karl Kunzelmann;
PUBLISHED: 2017, SOURCE: Scientific Reports, VOLUME: 7, ISSUE: 1
49
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
50
TITLE: Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides
AUTHORS: Igreja, S; Clarke, LA; Botelho, HM; Marques, L; Amaral, MD;
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 2
AUTHORS: Igreja, S; Clarke, LA; Botelho, HM; Marques, L; Amaral, MD;
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 2
