STELLA, Alessandro

STELLA, Alessandro  

DIPARTIMENTO DI MEDICINA DI PRECISIONE E RIGENERATIVA E AREA JONICA DiMePRe-J  

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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.
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: A questionnaire-based retrospective study 1-gen-2012 Pierucci, Paola; Lenato, Gennaro M; Suppressa, Patrizia; Lastella, Patrizia; Triggiani, Vincenzo; Valerio, Raffaella; Comelli, Mario; Salvante, Daniela; Stella, Alessandro; Resta, Nicoletta; Logroscino, Giancarlo; Resta, Francesco; Sabbà, Carlo
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 RARE MSH2 MUTATION CAUSING DEFECTIVE BINDING TO MSH6 NORMAL MSH2 STAINING AND LOSS OF MSH6 IN ADVANCED CANCER STAGE 1-gen-2014 Loconte, D; Patruno, M; Lastella, P; Di Gregorio, C; Grossi, V; Forte, G; Ingravallo, Giuseppe; Varvara, D; Bagnulo, R; Simone, Cristiano; Resta, Nicoletta; Stella, Alessandro
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.
Accurate classification of NF1 gene variants in 84 Italian patients with neurofibromatosis type 1 1-gen-2018 Stella, Alessandro; Lastella, Patrizia; Loconte, Daria Carmela; Bukvic, Nenad; Varvara, Dora; Patruno, Margherita; Bagnulo, Rosanna; Lovaglio, Rosaura; Bartolomeo, Nicola; Serio, Gabriella; Resta, Nicoletta
Aftershock prediction for high-frequency financial markets' dynamics 1-gen-2013 Baldovin, F.; Camana, F.; Caraglio, M.; Stella, A. L.; Zamparo, M.
Alternative splicing in colorectal cancer 1-gen-2006 Surbo, Nc; Lastella, P; 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
Analysis of telomere dynamics in peripheral blood cells from patients with lynch syndrome 1-gen-2011 Bozzao, C; Lastella, P; de Leon, Mp; Pedroni, M; Di Gregorio, C; D'Ovidio, Francesco Domenico; Resta, Nicoletta; Prete, F; Guanti, G; Stella, Alessandro
Anticipation in Lynch Syndrome: Where We Are Where We Go 1-gen-2011 Bozzao, C; Lastella, P; Stella, Alessandro
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.
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers 1-gen-2022 Turchiano, Antonella; Loconte, Daria Carmela; De Nola, Rosalba; Arezzo, Francesca; Chiarello, Giulia; Pantaleo, Antonino; Iacoviello, Matteo; Bagnulo, Rosanna; De Luisi, Annunziata; Perrelli, Sonia; Martino, Stefania; Ranieri, Carlotta; Garganese, Antonella; Stella, Alessandro; Forleo, Cinzia; Loizzi, Vera; Marinaccio, Marco; Cicinelli, Ettore; Cormio, Gennaro; Resta, Nicoletta
Bioinformatica applicata alla consulenza genetica 1-gen-2014 Resta, N; Stella, Alessandro
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever 1-gen-2020 Van Gorp, Hanne; Huang, Linyan; Saavedra, Pedro; Vuylsteke, Marnik; Asaoka, Tomoko; Prencipe, Giusi; Insalaco, Antonella; Ogunjimi, Benson; Jeyaratnam, Jerold; Cataldo, Ilaria; Jacques, Peggy; Vermaelen, Karim; Dullaers, Melissa; Joos, Rik; Sabato, Vito; Stella, Alessandro; Frenkel, Joost; De Benedetti, Fabrizio; Dehoorne, Joke; Haerynck, Filomeen; Calamita, Giuseppe; Portincasa, Piero; Lamkanfi, Mohamed
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.
Cancer family syndrome: cytogenetic investigations, in vitro tetraploidy, and biomarker studies in a large family 1-gen-1990 Guanti, G; Susca, Francesco Claudio; Cristofaro, G; Caruso, Ml; Massari, S; Porsia, R; Stella, Alessandro; Giorgio, I.
CANCER FAMILY SYNDROME: REPORT ON A GENETIC STUDIES IN A FAMILY 1-gen-1989 Susca, F; Cristofaro, G; Giorgio, I; Locritani, D; Lombardo, M; Massari, S; Nuzzo, F; Porsia, R; Stefanini, M; Stella, Alessandro; GUANTI G., IN MOLECULAR ASPECTS OF HUMAN DISEASES GORROD; Albano, ; Papa, Eds
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 1-gen-2013 Resta, Nicoletta; Pierannunzio, D; Lenato, Gm; Stella, Alessandro; Capocaccia, R; Bagnulo, R; Lastella, P; Susca, Francesco Claudio; Bozzao, C; Loconte, Dc; Sabba', Carlo; Urso, E; Sala, P; Fornasarig, M; Grammatico, P; Piepoli, A; Host, C; Turchetti, D; Viel, A; Memo, L; Giunti, L; Stigliano, V; Varesco, L; Bertario, L; Genuardi, M; Lucci Cordisco, E; Tibiletti, Mg; Di Gregorio, C; Andriulli, A; Ponz de Leon, M; Aifeg,
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene 1-gen-1996 Marchese, Ca; Bertolino, F; Ceccopieri, B; Vanzetti, M; Scaglione, D; Locatelli, L; Montera, M; Romio, L; Resta, Nicoletta; Stella, Alessandro; Guanti, G; Mareni, C.