IRIS

ASSELTA, ROSANNA

ASSELTA, ROSANNA  

Dipartimento Scienze Biomediche  

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Risultati 1 - 20 di 315 (tempo di esecuzione: 0.022 secondi).
Titolo Data di pubblicazione Autore(i) File
A functional variant in ERAP1 predisposes to multiple sclerosis 1-gen-2012 Guerini, Fr; Cagliani, R; Forni, D; Agliardi, C; Caputo, D; Cassinotti, A; Galimberti, D; Fenoglio, C; Biasin, M; Asselta, R; Scarpini, E; Comi, Gp; Bresolin, N; Clerici, M; Sironi, M
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest. 1-gen-2018 Samarani, M; Loberto, N; Solda, G; Straniero, L; Asselta, R; Duga, S; Lunghi, G; Zucca, Fa; Mauri, L; Ciampa, Mg; Schiumarini, D; Bassi, R; Giussani, P; Chiricozzi, E; Prinetti, A; Aureli, M; Sonnino, S.
A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker 1-gen-2000 Bonati, Mt; Duga, S; Asselta, R; Ferinistrambi, L; Oldani, A; Zucconi, M; Malcovati, M; Dalpra, L; Tenchini, Ml
A new exon in the 5’ untranslated region of bovine Connexin32 gene 1-gen-1999 DEL GIACCO, L; Malcovati, M; Ronchi, S; TENCHINI M., L; Simonic, T; Asselta, Rosanna
A new genetic mechanism for congenital afibrinogenemia: maternal uniparental isodisomy for chromosome 4 containing a 15-kb deletion in fibrinogen Aalpha-chain gene 1-gen-2004 Duga, S; Spena, S; Asselta, R; Peyandi, F; Mahasandana, C; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A novel 15-kb deletion involving fibrinogen Aalpha-chain gene causes congenital afibrinogenemia as a consequence of uniparental isodisomy of chromosome 4 1-gen-2004 Spena, S; Asselta, R; Duga, S; Monaldini, L; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A novel deafness-associated mutation within the microRNA MIR96 gene alters pre-miRNA folding and processing 1-gen-2011 Robusto, M; Asselta, Rosanna; Primignani, P; Castorina, P; Benzoni, E; Cesarani, A; Ambrosetti, U; Duga, Stefano; Solda', Giulia
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency 1-gen-2007 Bozzao, C; Rimoldi, V; Asselta, R; Landau, M; Ghiotto, R; Tenchini, Ml; DE CRISTOFARO, R; Castaman, G; Duga, S
A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family 1-gen-2009 Song, J; Guella, I; Kwon, K. Y.; Cho, H; Park, R; Asselta, R; Choi, J. R.
A novel mechanism for congenital afibrinogenemia based on pseudoexon activation in the fibrinogen gamma-chain gene 1-gen-2007 Spena, S; Asselta, R; Platè, M; Castaman, G; Duga, S; Tenchini, Ml
A novel mutation in MIR96 in an Italian family with nonsyndromic inherited hearing loss 1-gen-2011 Solda', Giulia; Robusto, M; Asselta, Rosanna; Primignani, P; Coviello, D; Castorina, P; Ambrosetti, U; Duga, Stefano
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing 1-gen-2012 Solda', G; Robusto, M; Primignani, P; Castorina, P; Benzoni, E; Cesarani, A; Ambrosetti, U; Asselta, R; Duga, S
A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-microRNA processing to its mature forms 1-gen-2011 Robusto, M; Asselta, Rosanna; Duga, Stefano; Solda', Giulia
A novel two base pair deletion in the factor V gene associated with severe factor V deficiency 1-gen-2000 Montefusco, Mc; Duga, S; Asselta, R; Santagostino, E; Mancuso, G; Malcovati, M; Mannucci, Pm; Tenchini, Ml
A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants 1-gen-2020 Straniero, Letizia; Rimoldi, Valeria; Melistaccio, Giada; Di Fonzo, Alessio; Pezzoli, Gianni; Duga, Stefano; Asselta, Rosanna
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency 1-gen-2005 Solda, G; Asselta, R; Ghiotto, R; Tenchini, Ml; Castaman, G; Duga, S
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 1-gen-2013 Menegatti, M.; Balestra, D.; Fabrizzi, B.; Asselta, R.; Pinotti, M.; Peyvandi, F.
A very rare simultaneous presence of a ring chromosome 13 and a splicing site mutation on Factor X gene 1-gen-2013 Menegatti, M.; Balestra, D.; Fabrizzi, B.; Asselta, R.; Pinotti, M.; Peyvandi, F.
ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy 1-gen-2020 Asselta, Rosanna; Paraboschi, Elvezia Maria; Mantovani, Alberto; Duga, Stefano
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 1-gen-2020 Benetti, Elisa; Tita, Rossella; Spiga, Ottavia; Ciolfi, Andrea; Birolo, Giovanni; Bruselles, Alessandro; Doddato, Gabriella; Giliberti, Annarita; Marconi, Caterina; Musacchia, Francesco; Pippucci, Tommaso; Torella, Annalaura; Trezza, Alfonso; Valentino, Floriana; Baldassarri, Margherita; Brusco, Alfredo; Asselta, Rosanna; Bruttini, Mirella; Furini, Simone; Seri, Marco; Nigro, Vincenzo; Matullo, Giuseppe; Tartaglia, Marco; Mari, Francesca; Renieri, Alessandra; Pinto, Anna Maria