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Titolo Data di pubblicazione Autore(i) File
Involvement of fibrinogen Bbeta-chain in the pathogenesis of congenital afibrinogenemia 1-gen-2001 Duga, S; Asselta, R; Spena, S; Santagostino, E; Peyvandi, F; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Il cluster genico CHRNA5/A3/B4: la presenza di una regione di sovrapposizione genica suggerisce l’esistenza di meccanismi post-trascrizionali nel controllo dell’espressione delle subunità alfa3 e alfa5 del recettore nicotinico neuronale 1-gen-2001 Solda', G.; Duga, S; Asselta, R; Malcovati, M; Tenchini, M. L.
Allelic heterogeneity of severe factor V deficiency 1-gen-2001 Montefusco, Mc; Duga, S; Asselta, R; Santagostino, E; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs 1-gen-2001 Asselta, R; Duga, S; Spena, S; Santagostino, E; Peyvandi, F; Piseddu, G; Targhetta, R; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency 1-gen-2001 VAN WIJK, R; Montefusco, Mc; Duga, S; Asselta, R; VAN SOLINGE, W; Malcovati, M; Tenchini, Ml; Mannucci, Pm
Esistenza di almeno un quarto locus per l’ADNFLE 1-gen-2001 Combi, R; Bonati, Mt; Duga, S; Asselta, R; Oldani, A; Zucconi, M; Ferini-Strambi, L; Malcovati, M; Dalprà, L; Tenchini, Ml
Ricerca di geni, diversi da quelli per i recettori nicotinici neuronali per l’acetilcolina, implicati nella epilessia notturna del lobo frontale autosomica dominante 1-gen-2001 Combi, R; Boi, S; Duga, S; Asselta, R; Dalprà, L; Malcovati, M; Tenchini, Ml
Afibrinogenemia: identificazione di cinque nuove mutazioni nel gene FGB 1-gen-2001 Spena, S; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml
Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms 1-gen-2001 Duga, S; Solda, G; Asselta, R; Bonati, Mt; Dalpra, L; Malcovati, M; Tenchini, Ml
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola 1-gen-2002 Spena, S; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bb-chain gene causing activation of cryptic splice sites 1-gen-2002 Spena, S; Duga, S; Asselta, R; Malcovati, M; Peyvandi, F; Tenchini, Ml
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 1-gen-2002 Duga, S; Asselta, R; Bonati, Mt; Malcovati, M; Dalpra, L; Oldani, A; Zucconi, M; Ferinistrambi, L; Tenchini, Ml
Congenital afibrinogenemia: In Vitro Expression of Two Novel Missense Mutations in the Fibrinogen Bbeta-Chain Gene Demonstrates That One of Them Acts as a Splicing Mutation 1-gen-2002 Asselta, R; Spena, S; Duga, S; Malcovati, M; Peyvandi, F; Mannucci, Pm; Tenchini, Ml
Rare coagulation deficiencies 1-gen-2002 Peyvandi, F; Duga, S; Akhavan, S; Mannucci, Pm
Genetic defects in congenital afibrinogenemia 1-gen-2002 Asselta, R; Spena, S; Duga, S; Tenchini, Ml
Evidence of the exixtance of at least a fourth locus for ADNFLE 1-gen-2002 Combi, R; Duga, S; Asselta, R; Boi, S; Oldani, A; Zucconi, M; Ferini-Strambi, L; Malcovati, M; Dalprà, L; Tenchini, Ml
Functional study of the tail-to-tail overlap between human neuronal nicotinic acetylcholine receptor CHRNA3 and CHRNA5 genes 1-gen-2002 Solda', G.; Duga, S; Malcovati, M; Tenchini, M. L.
Caratterizzazione ed espressione di 4 nuove mutazioni missense in pazienti affetti da carenza grave di fattore V della coagulazione 1-gen-2002 Montefusco, Mc; Asselta, R; Duga, S; Malcovati, M; Tenchini, Ml
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 1-gen-2002 Asselta, R; Spena, S; Duga, S; Peyvandi, F; Malcovati, M; Mannucci, Pm; Tenchini, Ml
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 1-gen-2002 Bonati, Mt; Combi, R; Asselta, R; Duga, S; Malcovati, M; Oldani, A; Zucconi, M; Ferinistrambi, L; Dalpra, L; Tenchini, Ml
Mostrati risultati da 41 a 60 di 300
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