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TITLE: MOLECULAR CHARACTERIZATION OF CONGENITAL ERYTHROCYTOSIS AND IDIOPATHIC ERYTHROCYTOSIS ANALYSED BY NEXT-GENERATION SEQUENCING  Full Text
AUTHORS: Frias, Raquel; Pereira, Janet; Relvas, Luis; Cunha, Elizabete; Manco, Licinio; Maia, Tabita Magalhaes; Bento, Celeste;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Association study of KLF1 gene variations with HbF and HbA2 levels in beta-thalassemia carriers of Portuguese origin
AUTHORS: Manco, Licinio; Bento, Celeste; Relvas, Luis; Maia, Tabita; Leticia Ribeiro, M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
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TITLE: Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population  Full Text
AUTHORS: Manco, Licinio; Bento, Celeste; Relvas, Luis; Maia, Tabita; Ribeiro, Maria Leticia;
PUBLISHED: 2022, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 36, ISSUE: 2
INDEXED IN: Scopus WOS
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TITLE: Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency  Full Text
AUTHORS: Paola Bianchi; Elisa Fermo; Bertil Glader; Hitoshi Kanno; Archana Agarwal; Wilma Barcellini; Stefan Eber; James D Hoyer; David J Kuter; Tabita Magalhaes Maia; Maria del Mar Manu Pereira; Theodosia A Kalfa; Serge Pissard; Jose Carlos Segovia; Eduard van Beers; Patrick G Gallagher; David C Rees; Richard van Wijk;
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF HEMATOLOGY, VOLUME: 94, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells
AUTHORS: Zita Garate; Oscar Quintana Bustamante; Ana M Crane; Emmanuel Olivier; Laurent Poirot; Roman Galetto; Penelope Kosinski; Collin Hill; Charles Kung; Xabi Agirre; Israel Orman; Laura Cerrato; Omaira Alberquilla; Fatima Rodriguez Fornes; Noemi Fusaki; Felix Garcia Sanchez; Tabita M Maia; Maria L Ribeiro; Julian Sevilla; Felipe Prosper; Shengfang F Jin; Joanne Mountford; Guillermo Guenechea; Agnes Gouble; Juan A Bueren; Brian R Davis; Jose C Segovia; ...More
PUBLISHED: 2015, SOURCE: STEM CELL REPORTS, VOLUME: 5, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases  Full Text
AUTHORS: Celeste Bento; Melanie J Percy; Betty Gardie; Tabita Magalhães Maia; Richard van Wijk; Silverio Perrotta; Fulvio Della Ragione; Helena Almeida; Cedric Rossi; François Girodon; Maria Åström; Drorit Neumann; Susanne Schnittger; Britta Landin; Milen Minkov; Maria Luigia Randi; Stéphane Richard; Nicole Casadevall; William Vainchenker; Susana Rives; Sylvie Hermouet; Leticia L Ribeiro; Mary Frances McMullin; Holger Cario; Aurelie Chauveau; Anne-Paule Gimenez-Roqueplo; Brigitte Bressac-de-Paillerets; Didem Altindirek; Felipe Lorenzo; Frederic Lambert; Harlev Dan; Sophie Gad-Lapiteau; Ana Catarina Oliveira; Cédric Rossi; Cristina Fraga; Gennadiy Taradin; Guillermo Martin-Nuñez; Helena Vitória; Herrera Diaz Aguado; Jan Palmblad; Julia Vidán; Luis Relvas; Maria Leticia Ribeiro; Maria Luigi Larocca; Maria Luigia Randi; Maria Pedro Silveira; Melanie Percy; Mor Gross; Ricardo Marques da Costa; Soheir Beshara; Tal Ben-Ami; Valérie Ugo; ...More
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 39
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TITLE: Hb PLASENCIA [alpha 125(H8)Leu -> Arg (alpha 2)] IS A FREQUENT CAUSE OF alpha(+)-THALASSEMIA IN THE PORTUGUESE POPULATION  Full Text
AUTHORS: Elizabete Cunha ; Celeste Bento; Ana Oliveira; Luis Relvas; Joana Neves; Mariline Gameiro; Cristina Barros; Ana Araujo; Ana Macedo; Paula Rocha; Ricardo Costa; Tabita Maia; Leticia Ribeiro, ML ;
PUBLISHED: 2013, SOURCE: HEMOGLOBIN, VOLUME: 37, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?)  Full Text
AUTHORS: Celeste Bento; Helena Almeida; Tabita M Maia; Luis Relvas; Ana C Oliveira; Cedric Rossi; Francois Girodon; Carlos Fernandez Lago; Ascension Aguado Diaz; Cristina Fraga; Ricardo M Costa; Ana L Araujo; Joao Silva; Helena Vitoria; Natalina Miguel; Maria Pedro Silveira; Guillermo Martin Nunez; Maria Leticia Ribeiro ;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HAEMATOLOGY, VOLUME: 91, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 3