Sfoglia per Autore
Factor XI deficiency: identification and molecular characterization of six novel missense mutations
2006-01-01 Spena, S; Duga, S; Asselta, R; Ghiotto, R; Tagliaferri, A; Malcovati, M; Tenchini, Ml; Castaman, G
Pseudoexon activation in the fibrinogen -chain gene as a novel mechanism for congenital afibrinogenemia
2006-01-01 Spena, S; Asselta, R; Platè, M; Castaman, G; Malcovati, M; Tenchini, Ml; Duga, S
Characterization of productive and unproductive mRNA splicings in F11 : identification of a novel coagulation isoform
2006-01-01 Asselta, R; Guella, I.; Rimoldi, V.; Malcovati, M.; Tenchini, M. L.; Duga, S.
Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions
2006-01-01 Asselta, R; Dall'Osso, C; Duga, S; Spreafico, M; Saxena, R; Tenchini, Ml
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia
2007-01-01 Spena, S; Asselta, R; Plate, M; Castaman, G; Duga, S; Tenchini, Ml
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency
2007-01-01 Bozzao, C; Rimoldi, V; Asselta, R; Landau, M; Ghiotto, R; Tenchini, Ml; DE CRISTOFARO, R; Castaman, G; Duga, S
Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects
2007-01-01 Monaldini, L; Asselta, R; Duga, S; Peyvandi, F; Karimi, M; Malcovati, M; Tenchini, Ml
Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient
2007-01-01 Plate, M; Asselta, R; Peyvandi, F; Tenchini, Ml; Duga, S
Molecular genetics of quantitative fibrinogen disorders
2007-01-01 Asselta, R; Spena, S; Duga, S; Tenchini, Ml
Analysis of in-cis elements and trans factors promoting pseudoexon inclusion in the fibrinogen gamma-chain (FGG) transcript
2007-01-01 Spena, S; Asselta, R; Buratti, E; Castaman, G; Tenchini, Ml; Duga, S
Missense mutations in the coiled-coil region of fibrinogen Aalpha chain cause fibrinogen deficiency by impairing dimerization of trimeric intermediates
2007-01-01 Platè, M; Asselta, R; Spena, S; Peyvandi, F; Duga, S; Tenchini, Ml
Alternative splicing and nonsense-mediated decay in the F5 gene
2007-01-01 Dall’Osso, C; Duga, S; Locatelli, N; Peyvandi, F; Tenchini, Ml; Asselta, R
The role of the Protein Kinase C Alpha (PRKCA) gene in the predisposition to multiple sclerosis
2007-01-01 Dall’Osso, C; Marotta, R; Gemmati, D; Zamboni, P; Benedetti, Md; Salviati, A; Invernizzi, P; Bonissoni, S; Bolognesi, E; Bergamaschi, L; Duga, S; Tenchini, Ml; Asselta, R
The proprotein convertase subtilisin-kexin type 9 (PCSK9) R46L variant is associated with reduced serum low-density lipoprotein cholesterol (LDL-C) in the Italian population
2007-01-01 Rimoldi V, Guella I; Asselta, R; Peyvandi, F; Fetiveau, R; Merlini, Pa; Ardissino, D; Mannucci, Pm; Duga, S; on behalf of the ATVB, (Atherosclerosis; Thrombosis, ; Vascular Biology Italian Study, Group)
Database on Rare Bleeding Disorder (RBDs): phenotype and genotype analysis on 400 affected patients
2007-01-01 Spreafico, M; Menegatti, M; Garagiola, I; Palla, R; Tagliabue, L; Karimi, M; Lak, M; Srivastava, A; Saxena, R; Shetty, S; Kavakly, K; Dolnicar, Mb; Aronis-Vournas, S; Asselta, R; Duga, S; Mannucci, Pm; Peyvandi, F
Simultaneous genotyping of FXI type II and type III mutations by multiplex real-time PCR in healthy Italians and in FXI-deficient patients
2007-01-01 Zadra, G; Asselta, R; Tenchini, Ml; Seligsohn, U; Castaman, G; Duga, S
The Proprotein Convertase Subtilisin-Kexin type 9 (PCSK9) R46L variant is associated with reduced serum low-density lipoprotein cholesterol (LDL-C) in the Italian population
2007-01-01 Duga, S; Guella, I; Rimoldi, V; Asselta, R; Peyvandi, F; Fetiveau, R; Merlini, Pa; Ardissino, D; Mannucci, Pm; ATHEROSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY ITALIAN STUDY, Group
The role of the Myocyte Enhancer Factor 2A (MEF2A) gene in the pathogenesis of myocardial infarction
2007-01-01 Rimoldi, V; Guella, I; Asselta, Rosanna; Ruggiero, C; Francolini, M; Peyvandi, F; Ardissimo, D; Tenchini, Ml; Mannucci, Pm; Duga, Stefano
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene
2007-01-01 Spena, S; Asselta, R; Platè, M; Castaman, G; Duga, S; Tenchini, Ml
Characterization of the F11 alternative splicing pattern: identification of a novel coagulation FXI isoform
2007-01-01 Guella, I; Asselta, R; Rimoldi, V; Tenchini, Ml; Duga, S
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