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TITLE: Alternative Polyadenylation and Nonsense-Mediated Decay Coordinately Regulate the Human HFE mRNA Levels  Full Text
AUTHORS: Rute Martins; Daniela Proenca; Bruno Silva; Cristina Barbosa; Ana Luisa Silva; Paula Faustino ; Luisa Romao ;
PUBLISHED: 2012, SOURCE: PLOS ONE, VOLUME: 7, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID
2
TITLE: Sickle cell disease severity scoring: a yet unsolved problem  Full Text
AUTHORS: Andreia Coelho; Alexandra Dias; Anabela Morais; Baltazar Nunes ; Paula Faustino ; Joao Lavinha;
PUBLISHED: 2012, SOURCE: EUROPEAN JOURNAL OF HAEMATOLOGY, VOLUME: 89, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: The functional significance of E277K and V295A HFE mutations  Full Text
AUTHORS: Bruno Silva; Rute Martins; Daniela Proenca; Rita Fleming; Paula Faustino ;
PUBLISHED: 2012, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 158, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
TITLE: Differential HFE Gene Expression Is Regulated by Alternative Splicing in Human Tissues  Full Text
AUTHORS: Rute Martins; Bruno Silva; Daniela Proenca; Paula Faustino ;
PUBLISHED: 2011, SOURCE: PLOS ONE, VOLUME: 6, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
TITLE: Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach  Full Text
AUTHORS: Belinda Giardine; Joseph Borg; Douglas R Higgs; Kenneth R Peterson; Sjaak Philipsen; Donna Maglott; Belinda K Singleton; David J Anstee; Nazli N Basak; Barnaby Clark; Flavia C Costa; Paula Faustino ; Halyna Fedosyuk; Alex E Felice; Alain Francina; Renzo Galanello; Monica V E Gallivan; Marianthi Georgitsi; Richard J Gibbons; Piero C Giordano; Cornelis L Harteveld; James D Hoyer; Martin Jarvis; Philippe Joly; Emmanuel Kanavakis; Panagoula Kollia; Stephan Menzel; Webb Miller; Kamran Moradkhani; John Old; Adamantia Papachatzopoulou; Manoussos N Papadakis; Petros Papadopoulos; Sonja Pavlovic; Lucia Perseu; Milena Radmilovic; Cathy Riemer; Stefania Satta; Iris Schrijver; Maja Stojiljkovic; Swee Lay Thein; Jan Traeger Synodinos; Ray Tully; Takahito Wada; John S Waye; Claudia Wiemann; Branka Zukic; David H K Chui; Henri Wajcman; Ross C Hardison; George P Patrinos; ...More
PUBLISHED: 2011, SOURCE: NATURE GENETICS, VOLUME: 43, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
7
TITLE: Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers  Full Text
AUTHORS: Joana Alves; Patricia Machado; Joao Silva; Nilza Goncalves; Leticia Ribeiro ; Paula Faustino ; Virgilio Estolio do Rosario; Licinio Manco ; Leonor Gusmao ; Amorim, Antonio ; Ana Paula Arez ;
PUBLISHED: 2010, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 44, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 12
IN MY: ORCID
8
TITLE: Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment  Full Text
AUTHORS: Andreia Coelho; Isabel Picanco; Filomena Seuanes; Maria Teresa Seixas; Paula Faustino ;
PUBLISHED: 2010, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 45, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 21
IN MY: ORCID
9
TITLE: Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes  Full Text
AUTHORS: Ana Isabel Mendes; Ana Ferro; Rute Martins; Isabel Picanco; Susana Gomes; Rute Cerqueira; Manuel Correia; Antonio Robalo Nunes; Jorge Esteves; Rita Fleming; Paula Faustino ;
PUBLISHED: 2009, SOURCE: ANNALS OF HEMATOLOGY, VOLUME: 88, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
10
TITLE: Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism  Full Text
AUTHORS: Rute Martins; Anabela Morais; Alexandra Dias; Isabel Soares; Cristiana Rolao; Ducla Soares, JL ; Ligia Braga ; Teresa Seixas; Baltazar Nunes ; Gabriel Olim; Luisa Romao ; Joao Lavinha; Paula Faustino ;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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