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Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrgenase in frame deletion in an older woman.
Manco L, Pereira J, Relvas L, Rebelo U, Crisóstomo AI, Bento C, Ribeiro ML.
Blood Cells Mol Dis. 2011 Apr 15;46(4):288-93.
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RhD Variant caused by an in-frame triplet duplication in the RHD gene
Janet Carvalho Pereira, Maria José Rodrigues, Louise Tilley, Joyce Poole, Teresa Chabert, Maria Letícia Ribeiro
Transfusion 2011 Mar;51(3):570-3.
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Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis
Morinière M, Delhommeau F, Calender A, Ribeiro L, Delaunay J, Baklouti F
Blood Cells Mol Dis. 15;45(4):284-8.
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SLC40A1 Q248H allele frequencies and associated SLC40A1 haplotypes in three West African population samples
D Albuquerque, L Manco, KM Loua, AP Arez, MJ Trovoada, L Relvas, TS Millimono, SL Rath, D Lopes, F Nogueira, L Varandas, M Alvarez, ML Ribeiro
Ann Hum Biol. 2011 May;38(3):378-81.
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Triosephosphate Isomerase Deficiency: A Patient With Val231Met Mutation.
Serdaroglu G, Aydinok Y, Yilmaz S, Manco L, Ozer E.
Pediatric Neurology. 2011; 44:139-142.
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Malaria: looking for selection signatures in the human PKLR gene region
P. Machado, R. Pereira, A.M. Rocha, L. Manco, N. Fernandes, J. Miranda, L. Ribeiro, V.E. Rosário, A. Amorim, L. Gusmão, A.P. Arez
British Journal of Haematology, 2010, Volume 149, Issue 5, Pages 775-784
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Estudo em doentes com anticorpos antifosfolípido positivo dos polimorfismos GPIb (VNTR e HPA-2), GPIIIa (HPA-1) e Anexina V (-1C/T) como factores predisponentes para trombose arterial
Felícia Fernandes, Armando Caseiro, Teresa Fidalgo, Patrícia Martinho, Catarina Pinto, Natália Martins, M. Leticia Ribeiro
Rev. Port. Ciências Biomédicas / 2010; V (5): 38-47
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Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.
Manco L, Vagace JM, Relvas L, Rebelo U, Bento C, Villegas A, Letícia Ribeiro M.
Eur J Haematol. 2010 Jan;84(1):89-90.
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Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.
Alves J, Machado P, Silva J, Gonçalves N, Ribeiro L, Faustino P, do Rosário VE, Manco L, Gusmão L, Amorim A, Arez AP.
Blood Cells Mol Dis. 2010 Jan 15;44(1):62-8.
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Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, Casey R, Fabris L, Hexner E, Mathews L, Ribeiro ML, Wierenga KJ, Neufeld EJ.
J Pediatr. 2009 Dec;155(6):888-892.e1. Epub 2009 Jul 29.PMID: 19643445
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