Sfoglia per Autore
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
2001 R. Asselta, S. Duga, S. Spena, E. Santagostino, F. Peyvandi, G. Piseddu, R. Targhetta, M. Malcovati, P.M. Mannucci, M.L. Tenchini
Identification of four novel polymorphisms in the Aα and γ fibrinogen genes and analysis of association with plasma levels of the protein
2001 M. Menegatti, R. Asselta, S. Duga, M. Malcovati, P. Bucciarelli, P.M. Mannucci, M.L. Tenchini
La qualità ‘possibile’ nella formazione degli operatori sanitari : riflessioni a partire dalla riforma dell’autonomia universitaria
2001 M. Malcovati, L. Zannini
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites
2002 S. Spena, S. Duga, R. Asselta, M. Malcovati, F. Peyvandi, M.L. Tenchini
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy
2002 S. Duga, R. Asselta, M.T. Bonati, M. Malcovati, L. Dalprà, A. Oldani, M. Zucconi, L. Ferini-Strambi, M.L. Tenchini
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia
2002 R. Asselta, S. Spena, S. Duga, F. Peyvandi, M. Malcovati, P.M. Mannucci, M.L. Tenchini
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
2002 M.T. Bonati, R. Combi, R. Asselta, S. Duga, M. Malcovati, A. Oldani, M. Zucconi, L. Ferini Strambi, L. Dalprà, M.L. Tenchini
The DNA pooling technique applied to the mutational screening of human congenital afibrinogenemia : identification of 3 novel mutations
2003 L. Monaldini, R. Asselta, M. Malcovati, M.L. Tenchini, S. Duga
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency : molecular characterization by expression of the recombinant protein
2003 S. Duga, M.C. Montefusco, R. Asselta, M. Malcovati, F. Peyvandi, E. Santagostino, P.M. Mannucci, M.L. Tenchini
Severe factor V deficiency : exon skipping in the factor V gene causing a partial deletion of the C1 domain
2003 R. Asselta, M.C. Montefusco, S. Duga, M. Malcovati, F. Peyvandi, P.M. Mannucci, M.L. Tenchini
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene
2003 S. Spena, R. Asselta, S. Duga, M. Malcovati, F. Peyvandi, P.M. Mannucci, M.L. Tenchini
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V : broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations
2003 M.C. Montefusco, S. Duga, R. Asselta, M. Malcovati, F. Peyvandi, E. Santagostino, P.M. Mannucci, M.L. Tenchini
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia
2004 S. Spena, R. Asselta, S. Duga, L. Monaldini, M. Malcovati, M.L. Tenchini
A novel Chlamydomonas reinhardtii gene potentially encoding a proline-, glycine- and tyrosine-rich protein (PGYRP)
2004 L. Sangiorgio, B. Strumbo, M. L. Tenchini, M. Malcovati, S. Ronchi, T. Simonic
Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia
2004 R. Asselta, S. Duga, S. Spena, F. Peyvandi, G. Castaman, M. Malcovati, P.M. Mannucci, M.L. Tenchini
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy
2004 Romina Combi, Leda Dalprà, Massimo Malcovati, Alessandro Oldani, Maria Luisa Tenchini, Luigi Ferini-Strambi
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients
2004 G. Zadra, R. Asselta, M. Malcovati, E. Santagostino, F. Peyvandi, P.M. Mannucci, M.L. Tenchini, S. Duga
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene
2004 S. Spena, S. Duga, R. Asselta, F. Peyvandi, C. Mahasandana, M. Malcovati, M.L. Tenchini
Identificazione di 5 nuove mutazioni puntiformi responsabili di carenza di fattore V della coagulazione
2005 R. Asselta, C. Dall’Osso, S. Duga, M. Malcovati, M.L. Tenchini
Fibrinogen Mumbai: impaired secretion due to a novel missense mutation in the Bbeta-chain gene
2005 L. Monaldini, S. Duga, R. Asselta, M. Malcovati, M.L. Tenchini
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