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Titolo Data di pubblicazione Autori Tipo File Abstract
Identification of four novel polymorphisms in the Aα and γ fibrinogen genes and analysis of association with plasma levels of the protein 2001 M. MenegattiR. AsseltaS. DugaM. MalcovatiP. BucciarelliP.M. MannucciM.L. Tenchini Article (author) -
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. AsseltaS. DugaS. SpenaF. PeyvandiM. MalcovatiP.M. MannucciM.L. Tenchini + Article (author) -
La qualità ‘possibile’ nella formazione degli operatori sanitari : riflessioni a partire dalla riforma dell’autonomia universitaria 2001 M. MalcovatiL. Zannini Article (author) -
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites 2002 S. SpenaS. DugaR. AsseltaM. MalcovatiF. PeyvandiM.L. Tenchini Article (author) -
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. DugaR. AsseltaM. MalcovatiM.L. Tenchini + Article (author) -
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 2002 R. AsseltaS. SpenaS. DugaF. PeyvandiM. MalcovatiP.M. MannucciM.L. Tenchini Article (author) -
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 R. AsseltaS. DugaM. MalcovatiM.L. Tenchini + Article (author) -
The DNA pooling technique applied to the mutational screening of human congenital afibrinogenemia : identification of 3 novel mutations 2003 L. MonaldiniR. AsseltaM. MalcovatiM.L. TenchiniS. Duga Book Part (author) -
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. DugaR. AsseltaM. MalcovatiF. PeyvandiP.M. MannucciM.L. Tenchini + Article (author) -
Severe factor V deficiency : exon skipping in the factor V gene causing a partial deletion of the C1 domain 2003 R. AsseltaS. DugaM. MalcovatiF. PeyvandiP.M. MannucciM.L. Tenchini + Article (author) -
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene 2003 S. SpenaR. AsseltaS. DugaM. MalcovatiF. PeyvandiP.M. MannucciM.L. Tenchini Article (author) -
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 S. DugaR. AsseltaM. MalcovatiF. PeyvandiP.M. MannucciM.L. Tenchini + Article (author) -
A novel Chlamydomonas reinhardtii gene potentially encoding a proline-, glycine- and tyrosine-rich protein (PGYRP) 2004 L. SangiorgioB. StrumboM. L. TenchiniM. MalcovatiS. RonchiT. Simonic Article (author) -
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia 2004 S. SpenaR. AsseltaS. DugaL. MonaldiniM. MalcovatiM.L. Tenchini Book Part (author) -
Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia 2004 R. AsseltaS. DugaS. SpenaF. PeyvandiM. MalcovatiP.M. MannucciM.L. Tenchini + Article (author) -
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy 2004 Massimo MalcovatiMaria Luisa Tenchini + Article (author) -
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene 2004 S. SpenaS. DugaR. AsseltaF. PeyvandiM. MalcovatiM.L. Tenchini + Article (author) -
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients 2004 G. ZadraR. AsseltaM. MalcovatiF. PeyvandiP.M. MannucciM.L. TenchiniS. Duga + Article (author) -
Fibrinogen Mumbai: impaired secretion due to a novel missense mutation in the Bbeta-chain gene 2005 L. MonaldiniS. DugaR. AsseltaM. MalcovatiM.L. Tenchini Book Part (author) -
Two new putative susceptibility loci for ADNFLE 2005 M. MalcovatiM. L. Tenchini + Article (author) -
Mostrati risultati da 1 a 20 di 47
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