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Polymorphic variations influencing fetal hemoglobin levels: Association study in beta thalassemia carriers and in normal individuals of Portuguese origin
Clara Pereira, Luís Relvas, Celeste Bento, Augusto Abade, M. Letícia Ribeiro, Licínio Manco.
Blood Cells, Molecules and Diseases 54 (2015) 315–320
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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin,… Celeste Bento, et al.
Nat Genet. 2015 Jul;47(7):717-26.
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Attention! Haemoglobin Monroe is a silent thalassaemic haemoglobinopathy.
Celeste Bento, Ana Catarina Oliveira, Luis Relvas, Carlos Fernandez- Lago, M João Palaré, M Leticia Ribeiro
BloodMed - Continuing Education, 2015
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Intragenic haplotype analysis of common HFE mutations in the Portuguese population
Toste S, Relvas L, Pinto C, Bento C, Abade A, Ribeiro ML, Manco L.
J Genet. 2015 Jun;94(2):329-33.
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
Celeste Bento and Janet Pereira co-authors as contributors to the EMQN haemoglobinopathies best practice meeting.
European Journal of Human Genetics (2015) 23, 426–437
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Clinical relevance of erythrocyte ferritin in microcytic anemias
Vagace JM, Peças A, Groiss J, Bento C, Ribeiro ML, Gervasini G
Clin Chim Acta. 2015 Jan 3;442C:1-5. doi: 10.1016/j.cca.2014.12.035. [Epub ahead of print]
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Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study
Teresa Fidalgo, Patrícia Martinho, Ramon Salvado, Licínio Manco, Ana C. Oliveira, Catarina S. Pinto, Elsa Gonçalves, Dalila Marques, Teresa Sevivas, Natália Martins and Maria Letícia Ribeiro
Eur J Haematol. 2014 Dec 22. [Epub ahead of print]
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The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.
Satchwell TJ, Hawley BR, Bell AJ, Ribeiro ML, Toye AM
Haematologica. 2014 Oct 24
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Erythrocytosis associated with a novel missense mutation in the BPGM gene.
Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium, Ratcliffe PJ, Robbins PA, McMullin MF.
Haematologica October 2014 99: e201-e204
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Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.
Gross M, Ben-Califa N, McMullin MF, Percy MJ, Bento C, Cario H, Minkov M, Neumann D
Br J Haematol. 2014 May;165(4):519-28. doi: 10.1111/bjh.12782. Epub 2014 Feb 18
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