IRIS PubliCatt

Sfoglia per ???browse.type.metadata.subjectErc2011???  LS2 - Genetics, Genomics, Bioinformatics and Systems Biology: genetics, population genetics, molecular genetics, genomics, transcriptomics, proteomics, metabolomics, bioinformatics, computational biology, biostatistics, biological modelling and simulation, systems biology, genetic epidemiology

Opzioni
Vai a: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Mostrati risultati da 27 a 46 di 240
Data di pubblicazione Titolo Autore(i) File
1-gen-2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance Hendriks, Y; Wagner, A; Morreau, H; Menko, F; Stormorken, A; Quehenberger, F; Sandkuijl, L; Moller, P; Genuardi, Maurizio; Van Houwelingen, H; Tops, C; Van Puijenbroek, M; Verkuijlen, P; Kenter, G; Van Mil, A; Meijers-Heijboer, H; Tan, G; Breuning, M; Fodde, R; Wijnen, J; Brocker-Vriends, A; Vasen, H
1-gen-2021 CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype Curro, A.; Doddato, G.; Bruttini, M.; Zollino, Marcella; Marangi, Giuseppe; Zappella, M.; Renieri, A.; Pinto, A. M.
1-gen-2001 CDKN2A germline splicing mutation affecting both P16(ink4) and P14(arf) RNA processing in a melanoma/neurofibroma kindred Petronzelli, F; Sollima, D; Coppola, G; Martini-Neri, M; Neri, G; Genuardi, Maurizio
1-gen-2016 CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations Brykczynska, Urszula; Pecho Vrieseling, Eline; Thiemeyer, Anke; Klein, Jessica; Fruh, Isabelle; Doll, Thierry; Manneville, Carole; Fuchs, Sascha; Iazeolla, Mariavittoria; Beibel, Martin; Roma, Guglielmo; Naumann, Ulrike; Kelley, Nicholas; Oakeley, Edward J.; Mueller, Matthias; Gomez Mancilla, Baltazar; Bühler, Marc; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; Bouwmeester, Tewis; Di Giorgio, Francesco Paolo; Fodor, Barna D.
1-gen-1998 Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility Genuardi, Maurizio; Viel, A; Bonora, D; Capozzi, E; Bellacosa, A; Leonardi, F; Valle, R; Ventura, A; Pedroni, M; Boiocchi, M; Neri, G
1-gen-1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer Viel, A; Genuardi, Maurizio; Capozzi, E; Leonardi, F; Bellacosa, A; Paravatoupetsotas, M; Pomponi, Massimiliano; Fornasarig, M; Percesepe, A; Roncucci, L; Tamassia, M; Benatti, P; Deleon, M; Valenti, A; Covino, Marcello; Anti, M; Foletto, M; Boiocchi, M; Neri, G
1-gen-1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer Viel, A; Genuardi, Maurizio; Capozzi, E; Leonardi, F; Bellacosa, A; Paravatoupetsotas, M; Pomponi, Massimiliano; Fornasarig, M; Percesepe, A; Roncucci, L; Tamassia, M; Benatti, P; Deleon, M; Valenti, A; Covino, Marcello; Anti, M; Foletto, M; Boiocchi, M; Neri, G
1-gen-2021 The climatic and genetic heritage of Italian goat breeds with genomic SNP data Cortellari, Matteo; Barbato, Mario; Talenti, Andrea; Bionda, Arianna; Carta, Antonello; Ciampolini, Roberta; Ciani, Elena; Crisà, Alessandra; Frattini, Stefano; Lasagna, Emiliano; Marletta, Donata; Mastrangelo, Salvatore; Negro, Alessio; Randi, Ettore; Sarti, Francesca M.; Sartore, Stefano; Soglia, Dominga; Liotta, Luigi; Stella, Alessandra; Ajmone Marsan, Paolo; Pilla, Fabio; Colli, Licia; Crepaldi, Paola
1-gen-2001 Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer Benatti, P; Roncucci, L; Ganazzi, D; Percesepe, A; Di Gregorio, Cristina; Pedroni, M; Borghi, F; Sala, E; Scarselli, A; Menigatti, M; Rossi, G; Genuardi, Maurizio; Viel, A; de Leon, M
1-gen-2020 Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1 Bigoni, S.; Marangi, G.; Frangella, S.; Panfili, A.; Ognibene, D.; Squeo, G. M.; Merla, G.; Zollino, M.
1-gen-2021 Cluster analysis in early axial spondyloarthritis predicts poor outcome in the presence of peripheral articular manifestations Costantino, Félicie; Aegerter, Philippe; Schett, Georg; De Craemer, Ann-Sophie; Molto, Anna; Van den Bosch, Filip; Elewaut, Dirk; Breban, Maxime; D'Agostino, Maria Antonietta
1-gen-2019 Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS Lattante, Serena; Doronzio, Paolo Niccolo'; Marangi, Giuseppe; Conte, Amelia; Bisogni, Giulia; Bernardo, Daniela; Russo, Tommaso; Lamberti, Dante; Patrizi, Sara; Paolo Apollo, Francesco; Lunetta, Christian; Scarlino, Stefania; Pozzi, Laura; Zollino, Marcella; Riva, Nilo; Sabatelli, Mario
1-gen-2016 Constitutive expression of pathogenesis-related proteins and antioxydant enzyme activities triggers maize resistance towards Fusarium verticillioides Maschietto, Valentina; Lanubile, Alessandra; Leonardis, Silvana De; Marocco, Adriano; Paciolla, Costantino
1-gen-2004 CORRELATION BETWEEN THYMIDYLATE SYNTHASE (TS) mRNA EXPRESSION AND TS GENE PROMOTER POLYMORPHISMS IN PRIMARY COLORECTAL CANCER PATIENTS Morganti, Maria; Ciantelli, Monica; Giglioni, Beatrice; Putignano, Anna L.; Nobili, Stefania; Papi, Laura; Landini, Ida; Napoli, Cristina; Valanzano, Rosa; Cianchi, Fabio; Boddi, Vieri; Tonelli, Francesco; Cortesini, Camillo; Mazzei, Teresita; Genuardi, Maurizio; Mini, Enrico
1-gen-2018 A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations Lee, E.; Le, T.; Zhu, Y.; Elakis, G.; Turner, A.; Lo, W.; Venselaar, H.; Verrenkamp, C. -A.; Snow, N.; Mowat, D.; Kirk, E. P.; Sachdev, R.; Smith, J.; Brown, N. J.; Wallis, M.; Barnett, C.; Mckenzie, F.; Freckmann, M. -L.; Collins, F.; Chopra, M.; Gregersen, N.; Hayes, I.; Rajagopalan, S.; Tan, T. Y.; Stark, Z.; Savarirayan, R.; Yeung, A.; Ades, L.; Gattas, M.; Gibson, K.; Gabbett, M.; Amor, D. J.; Lattanzi, Wanda; Boyd, S.; Haan, E.; Gianoutsos, M.; Cox, T. C.; Buckley, M. F.; Roscioli, T.
1-gen-2020 The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment Tognetto, A.; Pastorino, Roberta; Castorina, S.; Condorelli, D. F.; Decensi, A.; De Vito, C.; Magnano, A.; Scaldaferri, Franco; Villari, P.; Genuardi, Maurizio; Boccia, Stefania
1-gen-2018 Deep sequencing and pathway-focused analysis revealed multigene oncodriver signatures predicting survival outcomes in advanced colorectal cancer De Nicola, Francesca; Goeman, Frauke; Pallocca, Matteo; Sperati, Francesca; Pizzuti, Laura; Melucci, Elisa; Casini, Beatrice; Amoreo, Carla Azzurra; Gallo, Enzo; Diodoro, Maria Grazia; Buglioni, Simonetta; Mazzotta, Marco; Vici, Patrizia; Sergi, Domenico; Di Lauro, Luigi; Barba, Maddalena; Pescarmona, Edoardo; Ciliberto, Gennaro; De Maria Marchiano, Ruggero; Fanciulli, Maurizio; Maugeri-Saccà, Marcello
1-gen-2016 Defining the role of the CGGBP1 protein in FMR1 gene expression Goracci, Martina; Lanni, Stella; Mancano, Giorgia; Palumbo, Federica; Chiurazzi, Pietro; Neri, Giovanni; Tabolacci, Elisabetta
1-gen-2016 Defining the spectrum of frontotemporal dementias associated with TARDBP mutations. Caroppo, P; Camuzat, A; Guillot Noel, L; Thomas Antérion, C; Couratier, P; Wong, Th; Teichmann, M; Golfier, V; Auriacombe, S; Belliard, S; Laurent, B; Lattante, Serena; Millecamps, S; Clot, F; Dubois, B; Van Swieten, Jc; Brice, A; Le Ber, I.
1-gen-2015 Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample Evolutionary Biology Francalacci, Paolo; Sanna, Daria; Useli, Antonella; Berutti, Riccardo; Barbato, Mario; Whalen, Michael B.; Angius, Andrea; Sidore, Carlo; Alonso, Santos; Tofanelli, Sergio; Cucca, Francesco
Mostrati risultati da 27 a 46 di 240
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