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Anabela Santo Ramalho Venâncio
AuthID:
R-000-1ME
Publications
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Article (13)
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Results:
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Confirmed Publications: 13
1
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
2
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
3
TITLE:
Measurements of CFTR-Mediated Cl- Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis
Full Text
AUTHORS:
Marisa Sousa
;
Maria F Servidoni
;
Adriana M Vinagre
;
Anabela S Ramalho
;
Luciana C Bonadia
; Veronica Felicio; Maria A Ribeiro;
Inna Uliyakina
;
Fernando A Marson
;
Arthur Kmit
;
Silvia R Cardoso
;
Jose D Ribeiro
;
Carmen S Bertuzzo
;
Lisete Sousa
;
Karl Kunzelmann
; Antonio F Ribeiro;
Margarida D Amaral
;
PUBLISHED:
2012
,
SOURCE:
PLOS ONE,
VOLUME:
7,
ISSUE:
10
INDEXED IN:
Scopus
WOS
CrossRef
:
40
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
9
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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