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TITLE: Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis  Full Text
AUTHORS: Laia Masvidal; Susana Igreja; Maria D Ramos; Antoni Alvarez; Javier de Gracia; Anabela Ramalho ; Margarida D Amaral ; Sara Larriba; Teresa Casals;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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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
IN MY: ORCID
4
TITLE: Quantification of CFTR transcripts.
AUTHORS: Ramalho, AS ; Clarke, LA ; Amaral, MD ;
PUBLISHED: 2011, SOURCE: Methods in molecular biology (Clifton, N.J.), VOLUME: 741
INDEXED IN: Scopus CrossRef
IN MY: ORCID
5
TITLE: Escherichia coli-Cloned CFTR Loci Relevant for Human Artificial Chromosome Therapy
AUTHORS: Lucia Rocchi; Carla Braz; Sonja Cattani; Anabela Ramalho ; Sulith Christan; Marlene Edlinger; Fiorentina Ascenzioni; Andreas Laner; Simone Kraner; Margarida Amaral ; Dirk Schindelhauer;
PUBLISHED: 2010, SOURCE: HUMAN GENE THERAPY, VOLUME: 21, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
TITLE: Deletion of CFTR Translation Start Site Reveals Functional Isoforms of the Protein in CF Patients
AUTHORS: Anabela S Ramalho ; Marzena A Lewandowska; Carlos M Farinha ; Filipa Mendes ; Juan Goncalves; Celeste Barreto; Ann Harris; Margarida D Amaral ;
PUBLISHED: 2009, SOURCE: CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, VOLUME: 24, ISSUE: 5-6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: Bacterial transfer of large functional genomic DNA into human cells  Full Text
AUTHORS: Laner, A; Goussard, S; Ramalho, AS ; Schwarz, T; Amaral, MD ; Courvalin, P; Schindelhauer, D; Grillot Courvalin, G;
PUBLISHED: 2005, SOURCE: GENE THERAPY, VOLUME: 12, ISSUE: 21
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
8
TITLE: Characterization of novel airway submucosal gland cell models for cystic fibrosis studies
AUTHORS: da Paula, AC; Ramalho, AS ; Farinha, CM ; Cheung, J; Maurisse, R; Gruenert, DC; Ousingsawat, J; Kunzelmann, K ; Amaral, MD ;
PUBLISHED: 2005, SOURCE: CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, VOLUME: 15, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis  Full Text
AUTHORS: Hirtz, S; Gonska, T; Seydewitz, HH; Thomas, J; Greiner, P; Kuehr, J; Brandis, M; Eichler, I; Rocha, H; Lopes, AI; Barreto, C; Ramalho, A ; Amaral, MD ; Kunzelmann, K ; Mall, M;
PUBLISHED: 2004, SOURCE: GASTROENTEROLOGY, VOLUME: 127, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
10
TITLE: Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts  Full Text
AUTHORS: Ramalho, AS ; Beck, S; Farinha, CM ; Clarke, LA ; Heda, GD; Steiner, B; Sanz, J; Gallati, S; Amaral, MD ; Harris, A; Tzetis, M;
PUBLISHED: 2004, SOURCE: Journal of Cystic Fibrosis, VOLUME: 3, ISSUE: SUPPL. 2
INDEXED IN: Scopus CrossRef
IN MY: ORCID
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