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A Nonsense Mutation in MLH1 Causes Exon-Skipping in Three Unrelated HNPCC Families 1-gen-2001 Stella, Alessandro; Wagner, A; Shito, K; Lipkin, Sm; Watson, P; Guanti, G.
A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family 1-gen-2001 Montera, M; Piaggio, F; Marchese, C; Gismondi, V; Stella, Alessandro; Resta, Nicoletta; Varesco, L; Guanti, G; Mareni, C.
Nine novel APC mutations in Italian FAP patients 1-gen-2001 Resta, Nicoletta; Stella, Alessandro; Susca, Francesco Claudio; Montera, M; Gentile, M; Cariola, F; Prete, F; Tenconi, R; Tibiletti, Mg; Logrieco, G; Mattina, T; Andriulli, G; Caruso, Ml; Fiorente, P; Russo, S; CAPUTI IAMBRENGHI, Onofrio; Mareni, C; Guanti, G.
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients 1-gen-2002 Resta, Nicoletta; Stella, Alessandro; Susca, Francesco Claudio; DI GIACOMO, M; Forleo, G; Miccolis, I; Rossini, Fp; Genuardi, M; Piepoli, A; Grammatico, P; Guanti, G.
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients 1-gen-2003 Boudeau, J; Kieloch, A; Alessi, Dr; Stella, Alessandro; Guanti, G; Resta, Nicoletta
Site directed mutagenesis of hMLH1 exonic splicing enhancer does not correlate with splicing disruption 1-gen-2004 Lastella, P; Resta, Nicoletta; Miccolis, I; Quagliarella, A; Guanti, G; Stella, Alessandro
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites 1-gen-2005 Hastings, Ml; Resta, Nicoletta; Traum, D; Stella, Alessandro; Guanti, G; Krainer, Ar
Esiste un’influenza dei polimorfismi dell’enzima epossi-idrolasi microsomiale(mEH) sui marcatori citogenetici di danno genotossico? 1-gen-2005 Bukvic, N; Susca, Fc; Fanelli, Margherita; Ballini, A; Lovreglio, Piero; Bagnulo, R; Quagliarella, A; Lastella, P; Resta, Nicoletta; Di Giacomo, Mc; Lattanzi, W; Stella, Alessandro; Soleo, Leonardo; Guanti, G.
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants 1-gen-2005 Petruzzella, Vittoria; Panelli, D; Torraco, A; Stella, Alessandro; Papa, S.
In silico and in vivo analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects 1-gen-2006 Lastella, P; Surdo, Nc; Resta, Nicoletta; Guanti, G; Stella, Alessandro
Alternative splicing in colorectal cancer 1-gen-2006 Surbo, Nc; Lastella, P; Stella, Alessandro
A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in NMD efficiency 1-gen-2006 Resta, Nicoletta; Susca, Francesco Claudio; Di Giacomo, Mc; Stella, Alessandro; Bukvic, N; Bagnulo, R; Simone, Cristiano; Guanti, G.
Novel Splice Isoforms of STRADalpha Differentially Affect LKB1 Activity, Complex Assembly and Subcellular Localization 1-gen-2007 Marignani, Pa; Scott, Kd; Bagnulo, R; Cannone, D; Ferrari, E; Stella, Alessandro; Guanti, G; Simone, Cristiano; Resta, Nicoletta
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC 1-gen-2007 Stella, Alessandro; Surdo, N; Lastella, P; Barana, D; Oliani, C; Tibiletti, M; Viel, A; Natale, C; Piepoli, A; Marra, G; Guanti, G.
APC is essential for targeting phosphorylated beta-catenin to the SCFbeta-TrCP ubiquitin ligase 1-gen-2008 Su, Y; Fu, C; Ishikawa, S; Stella, Alessandro; Kojima, M; Shitoh, K; Schreiber, Em; Day, Bw; Liu, B.
Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects 1-gen-2010 Resta, Nicoletta; Giorda, R; Bagnulo, R; Beri, S; Della Mina, E; Stella, Alessandro; Piglionica, M; Susca, Francesco Claudio; Guanti, G; Zuffardi, O; Ciccone, R.
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation 1-gen-2011 Lastella, P; Patruno, M; Forte, G; Montanaro, A; Di Gregorio, C; Sabba', Carlo; Suppressa, P; Piepoli, A; Panza, A; Andriulli, A; Resta, Nicoletta; Stella, Alessandro
Papillary thyroid carcinoma in Peutz-Jeghers syndrome 1-gen-2011 Triggiani, Vincenzo; Guastamacchia, Edoardo; Renzulli, G; Giagulli V., A; Tafaro, E; Licchelli, B; Resta, Francesco; Sabba', Carlo; Bagnulo, R; Lastella, P; Stella, Alessandro; Resta, Nicoletta
LOSS OF LKB1 EXPRESSION IS AN EARLY MOLECULAR EVENT IN PROSTATE CARCINOGENESIS 1-gen-2011 Lucarelli, Giuseppe; Rutigliano, Monica; Loverre, Antonia; Ditonno, Pasquale; Battaglia, Michele; Selvaggi Francesco, Paolo; Van Leenders Geert, J.; Franken, Patrick; Fodde, Riccardo; Matrone, Antonio; Simone, Cristiano; Stella, Alessandro; Resta, Nicoletta
Anticipation in Lynch Syndrome: Where We Are Where We Go 1-gen-2011 Bozzao, C; Lastella, P; Stella, Alessandro
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