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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

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Data di pubblicazione Titolo Autore(i) File
1-gen-2016 Sarcomatoid adrenocortical carcinoma: a comprehensive pathological, immunohistochemical, and targeted next-generation sequencing analysis Papathomas Thomas, G; Duregon, Eleonora; Korpershoek, Esther; Restuccia David, F; van Marion, R; Cappellesso, Rocco; Sturm, N; Rossi, Giulio; Coli, Antonella; Zucchini, Nicola; Stoop, Hans; Oosterhuis, Wolter; Ventura, Laura; Volante, Marco; Fassina, Ambrogio; Dinjens Winand, Nm; Papotti, Mauro; de Krijger Ronald, R
1-gen-2016 Screening for resistance to Fusarium ear rot disease in the USA maize inbred line collection using a rolled towel assay. Stagnati, Lorenzo; Lanubile, Alessandra; Busconi, Matteo; Battilani, Paola; Holland, J; Marocco, Adriano
1-gen-2008 Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results Plon, S; Eccles, D; Easton, D; Foulkes, W; Genuardi, Maurizio; Greenblatt, M; Hogervorst, F; Hoogerbrugge, N; Spurdle, A; Tavtigian, S
1-gen-2004 Simple and complex genetics of colorectal cancer susceptibility Baglioni, S; Genuardi, Maurizio
1-gen-2017 Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni
1-gen-2007 A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case Ricci, U; Melean, G; Robino, C; Genuardi, M
1-gen-2021 SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration Barbier, M.; Camuzat, A.; Hachimi, K. E.; Guegan, J.; Rinaldi, D.; Lattante, Serena; Houot, M.; Sanchez-Valle, R.; Sabatelli, Mario; Antonell, A.; Molina-Porcel, L.; Clot, F.; Couratier, P.; Van Der Ende, E.; Van Der Zee, J.; Manzoni, C.; Camu, W.; Cazeneuve, C.; Sellal, F.; Didic, M.; Golfier, V.; Pasquier, F.; Duyckaerts, C.; Rossi, G.; Bruni, A. C.; Alvarez, V.; Gomez-Tortosa, E.; De Mendonca, A.; Graff, C.; Masellis, M.; Nacmias, B.; Oumoussa, B. M.; Jornea, L.; Forlani, S.; Van Deerlin, V.; Rohrer, J. D.; Gelpi, E.; Rademakers, R.; Van Swieten, J.; Le Guern, E.; Van Broeckhoven, C.; Ferrari, R.; Genin, E.; Brice, A.; Le Ber, I.
1-gen-2021 SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples Abiusi, Emanuela; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, Marika; Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Diano, Federica; Novelli, Agnese; Spartano, Serena; Fiori, Simona; Baranello, Giovanni; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, Krizia; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, Francesco; Bruno, C.; Locatelli, D.; Bertini, Enrico Silvio; Morandi, L. O.; Mercuri, Eugenio Maria; Di Marcotullio, L.; Tiziano, Francesco Danilo
1-gen-2021 SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples Abiusi, E.; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, M.; Coratti, G.; Pera, M. C.; D'amico, A.; Diano, F.; Novelli, A.; Spartano, S.; Fiori, S.; Baranello, G.; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, K.; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, F.; Bruno, C.; Locatelli, D.; Bertini, E. S.; Morandi, L. O.; Mercuri, E.; Di Marcotullio, L.; Tiziano, F. D.
1-gen-2020 SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; Mcgowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E. V.; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; England Research Consortium, Genomics; Boyadjiev, Simeon A.; Wilkie, Andrew O. M.
1-gen-2017 SMARCB1/INI1 Involvement in pediatric chordoma. A mutational and immunohistochemical analysis Antonelli, Manila; Raso, Alessandro; Mascelli, Samantha; Gessi, Marco; Nozza, Paolo; Coli, Antonella; Gardiman Marina, P; Arcella, Antonietta; Massimino, Maura; Buttarelli Francesca, R; Giangaspero, Felice
1-gen-2006 Stability of BAT26 in Lynch syndrome colorectal tumours - Reply to Jaskowski et al Pastrello, C; Tricarico, R; Tibiletti, M; Papi, L; Fornasarig, M; Morabito, A; Agostini, M; Genuardi, Maurizio; Viel, A
1-gen-2006 Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion Pastrello, C; Baglioni, S; Tibiletti, M; Papi, L; Fornasarig, M; Morabito, A; Agostini, M; Genuardi, Maurizio; Viel, A
1-gen-2017 Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco
1-gen-2017 Stuck in fragments: Population genetics of the Endangered collared brown lemur Eulemur collaris in the Malagasy littoral forest Bertoncini, Stefania; D'Ercole, Jacopo; Brisighelli, Francesca; Ramanamanjato, Jean baptiste; Capelli, Cristian; Tofanelli, Sergio; Donati, Giuseppe
1-gen-1997 Survival analysis in families affected by hereditary non-polyposis colorectal cancer Percesepe, A; Benatti, P; Roncucci, L; Sassatelli, R; Fante, R; Ganazzi, D; Bellacosa, A; Genuardi, Maurizio; Neri, G; Viel, A; Deleon, M
1-gen-1997 Survival analysis in families affected by hereditary non-polyposis colorectal cancer Percesepe, A; Benatti, P; Roncucci, L; Sassatelli, R; Fante, R; Ganazzi, D; Bellacosa, A; Genuardi, Maurizio; Neri, G; Viel, A; Deleon, M
1-gen-2004 Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene Bagnoli, S; Putignano, A; Melean, G; Baglioni, S; Sestini, R; Milla, M; D'Albasio, G; Genuardi, Maurizio; Pacini, F; Trallori, G; Papi, L
1-gen-2018 SYT1-associated neurodevelopmental disorder: A case series Baker, Kate; Gordon, Sarah L.; Melland, Holly; Bumbak, Fabian; Scott, Daniel J.; Jiang, Tess J.; Owen, David; Turner, Bradley J.; Boyd, Stewart G.; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M. S.; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Genomics, Mendelian; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A.; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A.; Cousin, Michael A.; Raymond, F. Lucy
1-gen-2009 Tacrolimus causes reduced GLI1 expression and phenotypic changes in the TE 354.T basal cell carcinoma cell line Di Gennaro, P; Sestini, R; Bacci, S; Pacini, Andrea; Pinzani, P; Domenici, L; Toscano, A; Massi, D; Carli, P; Genuardi, Maurizio; Romagnoli, P
Mostrati risultati da 205 a 224 di 240
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