Sfoglia per Autore
Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen Aalpha-chain gene
2004-01-01 Spena, S; Duga, S; Asselta, R; Malcovati, M; Tenchini, Ml
First histopathological characterization of the liver of an afibrinogenemic patient: the Leu353Arg mutation in the Bbeta-chain gene is not associated with hepatic endoplasmic reticulum storage
2004-01-01 Asselta, Rosanna; Duga, Stefano; Bozzao, C; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Coagulopatie ereditarie
2004-01-01 Duga, Stefano; Asselta, Rosanna
Disomia uniparentale del cromosoma 4 contenente una nuova delezione nel gene FGA come causa di afibrinogenemia congenita
2004-01-01 Spena, S; Asselta, R; Duga, S; Monaldini, L; Malcovati, M; Tenchini, Ml
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4
2004-01-01 Spena, S; Asselta, R; Duga, S; Monaldini, L; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients
2004-01-01 Zadra, G; Asselta, R; Malcovati, M; Santagostino, E; Peyvandi, F; Mannucci, Pm; Tenchini, Ml; Duga, S
Missense or splicing mutation? The case of a fibrinogen Bb-chain mutation causing severe hypofibrinogenemia
2004-01-01 Asselta, R; Duga, S; Spena, S; Peyvandi, F; Castaman, G; Malcovati, M; Mannucci, Pm; Tenchini, Ml
The genetic bases of congenital afibrinogenemia: an overview
2004-01-01 Duga, Stefano; Asselta, Rosanna; Spena, S; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency
2005-01-01 Solda, G; Asselta, R; Ghiotto, R; Tenchini, Ml; Castaman, G; Duga, S
Espressione in vitro e caratterizzazione funzionale di 4 mutazioni responsabili di carenza di fattore XI della coagulazione
2005-01-01 Duga, S; Bozzao, C; Asselta, R; Ghiotto, R; Malcovati, M; Tenchini, Ml; Castaman, G
The DNA-pooling technique allowed for the identification of three novel mutations responsible for afibrinogenemia
2005-01-01 Monaldini, L; Asselta, R; Malcovati, M; Tenchini, Ml; Duga, S
Fibrinogen Mumbai: impaired sexcretion due to a novel missense mutation in the Bbeta-chain gene
2005-01-01 Monaldini, L; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml
Exploring the intracellular fate of coagulation factor V carrying the R2074C mutation
2005-01-01 Dall’Osso, C; Asselta, Rosanna; Duga, Stefano; Malcovati, M; Tenchini, Ml
Type II Mutation (Glu117stop) Causes Factor XI Deficiency By Inducing Allele Specific mRNA Degradation
2005-01-01 Soldà, G; Asselta, R; Ghiotto, R; Malcovati, M; Tenchini, Ml; Castaman, G; Duga, S
Eight novel mutations in FXI gene
2005-01-01 G., Castaman; R., Ghiotto; G., Rossetti; D., Habart; A., Tagliaferri; Duga, S
Identificazione di 5 nuove mutazioni puntiformi responsabili di carenza di fattore V della coagulazione
2005-01-01 Asselta, R; Dall’Osso, C; Duga, S; Malcovati, M; Tenchini, Ml
Identificazione e caratterizzazione della prima mutazione missense nel gene per la catena Aalpha; del fibrinogeno responsabile di afibrinogenemia congenita
2005-01-01 Asselta, R; Platè, M; Duga, S; Malcovati, M; Tenchini, Ml
In-vitro Expression And Functional Characterization Of Four Mutations Causing Factor XI Deficiency
2005-01-01 Duga, S; Asselta, R; Bozzao, C; Ghiotto, R; Malcovati, M; Tenchini, Ml; Castaman, G
Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant
2005-01-01 Duga, S; Braidotti, P.; Asselta, R.; Maggioni, M.; Santagostino, E.; Pellegrini, C.; Coggi, G.; Malcovati, M.; Tenchini, M. L.
Geni sovrapposti in eucarioti superiori
2005-01-01 Solda', G.; Boi, S; Duga, S; Malcovati, M; Tenchini, M. L.
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