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A novel beta zero- thalassemia mutation (codon 15 TGG-TGA) is prevalent in a population of Central Portugal.
Ribeiro ML, Baysal E, Kutlar F, Tamagnini GP, Gonçalves P, Lopes D, Huisman TH
Br J Haematol, 80(4):567-8
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Molecular heterogeneity underlying the G6PD Mediterranean phenotype
Corcoran CM, Calabro V, Tamagnini G, Town M, Haidar B, Vulliamy TJ, Mason PJ, Luzzatto L
Hum Genet, 88(6):688-90.
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Deficiência de Glucose-Fosfato-Isomerase (GPI)
A Neto, A Esaguy, ML Ribeiro, P Gonçalves, G Tamagnini
Rev Port Pediatr, 23:37-39
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Beta S Haplotypes in various world populations
Oner C, Dimovski AJ, Olivieri NF, Schiliro G, Codrington JF, Fattoum S, Adekile AD, Oner R, Yuregir GT, Altay C, Gurgey A, Gupta RB, Jogessar VB, Kitundu MN, Loukopoulos D, Tamagnini GP, Ribeiro ML, K
Hum Genet, 89:99-104.
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Poland’s syndrome associated with chronic granulocytic leukaemia
Costa R, Afonso E, Benedito M, Maricato L
Sangre (Barc), 36(5):417-8
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Dominant b-thalassemia trait in a portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene.
Oner R, Oner C, Wilson JB, Tamagnini GP, Ribeiro ML, HuismanTJ
Br J Haematol. Oct;79(2):306-10
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Hb Coimbra or alpha 2 beta 299 (G1)Asp-Glu, a newly discovered high oxygen affinity variant
Tamagnini G, Ribeiro ML, Valente V, Ramachandran M, Wilson JB, Baysal E, Gu LH, Huisman THJ
Hemoglobin, 15(6):487-96
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Linfohistiocitose Hemofagocítica Familiar – a propósito de um caso clínico
M Benedito, F Maduro, F Heitor, R Maia, R Batista, L Maricato
, Rev Port Pediatr, 22:121-3
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Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene.
Zhao W, Wilson JB, Webber BB, Kutlar A, Tamagnini GP, Kuam B, Huisman TH
Hemoglobin, 14(6):627-35
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B-cell chronic lymphocytic leukaemia: prognostic value of the immunophenotype and the clinico-haematological features.
Orfão A, Gonzalez M, San Miguel JF, Rios A, Canizo MC, Hernandez J, Maricato ML, Lopez Borrasca A
Am J Haematol, 31(1):26-31
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