Sfoglia per Autore
Ricerca di geni, diversi da quelli per i recettori nicotinici neuronali per l’acetilcolina, implicati nella epilessia notturna del lobo frontale autosomica dominante
2001-01-01 Combi, R; Boi, S; Duga, S; Asselta, R; Dalprà, L; Malcovati, M; 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
2001-01-01 Solda', G.; Duga, S; Asselta, R; Malcovati, M; Tenchini, M. L.
Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein
2001-01-01 Menegatti, M; Asselta, R; Duga, S; Malcovati, M; Bucciarelli, P; Mannucci, Pm; 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
2001-01-01 Duga, S; Solda, G; Asselta, R; Bonati, Mt; Dalpra, L; Malcovati, M; 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
2001-01-01 Asselta, R; Duga, S; Spena, S; Santagostino, E; Peyvandi, F; Piseddu, G; Targhetta, R; Malcovati, M; Mannucci, Pm; Tenchini, Ml
Autosomal recessive deficiencies of coagulation factors
2001-01-01 Peyvandi, F; Asselta, R; Mannucci, Pm
Eterogeneità allelica della grave carenza di fattore V
2001-01-01 Montefusco, Mc; Duga, Stefano; Asselta, Rosanna; Bianchi, V; Malcovati, M; Tenchini, Ml
Basi molecolari e meccanismi patogenetici di due coagulopatie rare: afibrinogenemia e carenza di fattore V della coagulazione
2001-01-01 Duga, Stefano; Asselta, Rosanna; Montefusco, Mc; Spena, S; Malcovati, M; 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
2001-01-01 VAN WIJK, R; Montefusco, Mc; Duga, S; Asselta, R; VAN SOLINGE, W; Malcovati, M; Tenchini, Ml; Mannucci, Pm
Evidence of the exixtance of at least a fourth locus for ADNFLE
2002-01-01 Combi, R; Duga, S; Asselta, R; Boi, S; Oldani, A; Zucconi, M; Ferini-Strambi, L; Malcovati, M; Dalprà, L; Tenchini, Ml
Caratterizzazione ed espressione di 4 nuove mutazioni missense in pazienti affetti da carenza grave di fattore V della coagulazione
2002-01-01 Montefusco, Mc; Asselta, R; Duga, S; Malcovati, M; 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
2002-01-01 Asselta, R; Spena, S; Duga, S; Malcovati, M; Peyvandi, F; Mannucci, Pm; Tenchini, Ml
Genetic defects in congenital afibrinogenemia
2002-01-01 Asselta, R; Spena, S; Duga, S; Tenchini, Ml
Afibrinogenemia congenita: nuova mutazione nel gene per la catena Bbeta del fibrinogeno che causa ritenzione intracellulare della molecola
2002-01-01 Spena, S; Duga, Stefano; Asselta, Rosanna; Malcovati, M; Tenchini, Ml
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia
2002-01-01 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
2002-01-01 Bonati, Mt; Combi, R; Asselta, R; Duga, S; Malcovati, M; Oldani, A; Zucconi, M; Ferinistrambi, L; Dalpra, L; Tenchini, Ml
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bb-chain gene causing activation of cryptic splice sites
2002-01-01 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
2002-01-01 Duga, S; Asselta, R; Bonati, Mt; Malcovati, M; Dalpra, L; Oldani, A; Zucconi, M; Ferinistrambi, L; Tenchini, Ml
La tecnica del DNA pooling applicata allo screening mutazionale della afibrinogenemia congenita umana: identificazione di 3 nuove mutazioni
2003-01-01 Monaldini, L; Asselta, R; Malcovati, M; Tenchini, Ml; Duga, S
IN VITRO EXPRESSION OF A NOVEL AFIBRINOGENEMIA-CAUSING MISSENSE MUTATION IN THE FIBRINOGEN Bb-CHAIN GENE NOT ASSOCIATED WITH ENDOPLASMIC RETICULUM STORAGE
2003-01-01 Asselta, R.; Spena, S.; Duga, S; Peyvandi, F.; Malcovati, M.; Mannucci, P. M.; Tenchini, M. L.
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile