Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 von Ribeiro, Maria Letı́cia, Alloisio, Nicole, Almeida, Helena, Gomes, Clara, Texier, Pascale, Lemos, Carlos, Mimoso, Gabriela, Morlé, Laurette, Bey-Cabet, Faı̈za, Rudigoz, René-Charles, Delaunay, Jean, Tamagnini, Gabriel

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Device profile of the Inspiris Resilia valve for aortic valve replacement: overview of its safety and efficacy von Tamagnini, G, Bourguignon, T, Rega, F, Verbrugghe, P, Lamberigts, M, Langenaeken, T, Meuris, Bart

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P331 IMPLANT OF THE BALLOON EXPANDABLE BIOLOGICAL PROSTHESIS FOR TAVI (EDWARDS SAPIEN 3 ULTRA) PRE–ASSEMBLED ON EXPANSION BALLOON, IN “OPEN” SITUATION WITH PATIENT IN CEC von De Remigis, F, Benvenuto, M, Tomassoni, G, Giancola, R, Tamagnini, G, De Rosa, M, Fabiani, D, Napoletano, C

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A new PKLR gene mutation in the R‐type promoter region affects the gene transcription causing pyruvate kinase deficiency von Manco, Licínio, Ribeiro, M. Letícia, Máximo, Valdemar, Almeida, Helena, Costa, Alice, Freitas, Orquídea, Barbot, José, Abade, Augusto, Tamagnini, Gabriel

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Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure von Morinière, Madeleine, Ribeiro, Leticia, Dalla Venezia, Nicole, Deguillien, Mireille, Maillet, Philippe, Cynober, Thérèse, Delhommeau, François, Almeida, Helena, Tamagnini, Gabriel, Delaunay, Jean, Baklouti, Faouzi

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Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis von ALLOISIO, N, TEXIER, P, TAMAGNINI, G, DELAUNAY, J, VALLIER, A, RIBEIRO, M. L, MORLE, L, BOZON, M, BURSAUX, E, MAILLET, P, GONCALVES, P, TANNER, M. J. A

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Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin von Amaral, Olga, Lacerda, Lucia, Marcão, Ana, Pinto, Eugénia, Tamagnini, Gabriel, Miranda, MC Sá

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Hb Vila Real [β36(C2)Pro→His]: A Newly Discovered High Oxygen Affinity Variant von Bento, M. C., Ribeiro, M. L., Cunha, E., Rebelo, U., Granjo, E., Granado, C., Tamagnini, G. P.

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Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura von RIBEIRO, M. L, CUNHA, E, GONCALVES, P, MARTIN NUNEZ, G, FERNANDEZ GALAN, M. A, TAMAGNINI, G. P, SMETANINA, N. S, GU, L. H, HUISMAN, T. H. J

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Hemoglobin Disorders in Macao von Ribeiro, M. L., Tamagnini, G. P.

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Genetic Heterogeneity of β-Thalassemia in Populations of the Iberian Peninsula von Ribeiro, M. L., Gonplves, P., Cunha, E., Bentol, C., Almeida, H., Pereira, J., Núñez, G. Martin, Tamagnini, G. P.

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HB Coimbra or α2β299(Gl)ASP→GLU, A Newly Discovered High Oxygen Affinity Variant von Tamagnini, G. P., Ribeiro, M. L., Valente, V., Ramachandran, M., Wilson, J. B., Baysal, E., Gu, L-H., Huisman, T. H. J.

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Molecular heterogeneity underlying the G6PD Mediterranean phenotype von CORCORAN, C. M, CALABRO, V, TAMAGNINI, G, TOWN, M, HAIDAR, B, VULLIAMY, T. J, MASON, P. J, LUZZATTO, L

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βs haplotypes in various world populations von ÖNER, C, DIMOVSKI, A. J, GURGEY, A, GUPTA, R. B, JOGESSAR, V. B, KITUNDU, M. N, LOUKOPOULOS, D, TAMAGNINI, G. P, RIBEIRO, M. L. S, KUTLAR, F, GU, L.-H, LANCLOS, K. D, OLIVIERI, N. F, HUISMAN, T. H. J, SCHILIRO, G, CODRINGTON, J. F, FATTOUM, S, ADEKILE, A. D, ÖNER, R, YÜREGIR, G. T, ALTAY, C

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Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency von MCVEY, J. H, BOSWELL, E. J, TAKAMIYA, O, TAMAGNINI, G, VALENTE, V, FIDALGO, T, LAYTON, M, TUDDENHAM, E. G. D

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Onset of X-linked sideroblastic anemia in the fourth decade von Cortesao, E, Vidan, J, Pereira, J, Goncalves, P, Ribeiro, ML, Tamagnini, G

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Exclusion of the First EGF Domain of Factor VII by a Splice Site Mutation Causes Lethal Factor VII Deficiency von McVey, John H., Boswell, Emma J., Takamiya, Osamu, Tamagnini, Gabriel, Valente, Victor, Fidalgo, Teresa, Layton, Mark, Tuddenham, Edward G.D.

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A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells von Delhommeau, François, Vasseur-Godbillon, Corinne, Leclerc, Philippe, Schischmanoff, Pierre-Olivier, Croisille, Laure, Rince, Patricia, Morinière, Madeleine, Benz, Edward J., Tchernia, Gil, Tamagnini, Gabriel, Ribeiro, Leticia, Delaunay, Jean, Baklouti, Faouzi

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PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients von Manco, Licínio, Ribeiro, M. Letícia, Almeida, Helena, Freitas, Orquídea, Abade, Augusto, Tamagnini, Gabriel

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Congenital Anemias in Macau von Tamagnini, G. P., Kuam, B., Fai, Y. K.

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