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Data di pubblicazione Titolo Autore(i) File
1-gen-2007 Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 Malvagia, S; Papi, L; Morrone, A; Donati, M; Ciani, F; Pasquini, E; la Marca, G; Scholte, H; Genuardi, M; Zammarchi, E
1-gen-2015 The first mitogenome of the Cyprus mouflon (Ovis gmelini ophion): New insights into the phylogeny of the genus Ovis Sanna, Daria; Barbato, Mario; Hadjisterkotis, Eleftherios; Cossu, Piero; Decandia, Luca; Trova, Sandro; Pirastru, Monica; Leoni, Giovanni Giuseppe; Naitana, Salvatore; Francalacci, Paolo; Masala, Bruno; Manca, Laura; Mereu, Paolo
1-gen-1995 FIRST REPORT OF T(8-21)(Q22-Q22) IN A CASE OF DE-NOVO ACUTE MONOBLASTIC LEUKEMIA Coxfroncillo, M; Genuardi, Maurizio; Bajer, J; Livdi, E; Adorno, G; Venditti, A; Masi, Maria Claudia; Giudiceandrea, P; Neri, G; Papa, G
1-gen-2004 A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability Caluseriu, O; Di Gregorio, Cristina; Lucci-Cordisco, E; Santarosa, M; Trojan, J; Brieger, A; Benatti, P; Pedroni, M; Colibazzi, T; Bellacosa, A; Neri, G; de Leon, M; Viel, A; Genuardi, Maurizio
1-gen-1995 FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY Chiurazzi, Pietro; Genuardi, Maurizio; Kozak, L; L Giovannucci-Uzielli, M; Bussani, C; Dagna-Bricarelli, F; Grasso, M; Perroni, L; Sebastio, G; P Sperandeo, M; A Oostra, B; Neri, G
1-gen-2007 Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC Roncari, B; Pedroni, M; Maffei, S; Di Gregorio, C; Ponti, G; Scarselli, A; Losi, L; Benatti, P; Roncucci, L; De Gaetani, C; Camellini, L; Lucci-Cordisco, E; Tricarico, R; Genuardi, M; de Leon, M
1-gen-2017 Functional data analysis of “Omics” data: how does the genomic landscape influence integration and fixation of endogenous retroviruses? Cremona, Marzia A.; Campos-Sánchez, Rebeca; Pini, Alessia; Vantini, Simone; Makova, Kateryna D.; Chiaromonte, Francesca
1-gen-2017 Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants Gigante, M.; Diella, S.; Santangelo, L.; Trevisson, E.; Acosta, M. J.; Amatruda, M.; Finzi, G.; Caridi, G.; Murer, L.; Accetturo, M.; Ranieri, E.; Ghiggeri, G. M.; Giordano, M.; Grandaliano, Giuseppe; Salviati, L.; Gesualdo, L.
1-gen-2020 Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis Cuellar, Araceli; Bala, Krithi; Di Pietro, Lorena; Barba, Marta; Yagnik, Garima; Liu, Jia Lie; Stevens, Christina; Hur, David J; Ingersoll, Roxann G; Justice, Cristina M; Drissi, Hicham; Kim, Jinoh; Lattanzi, Wanda; Boyadjiev, Simeon A
1-gen-2021 Gene expression profiling of pancreas neuroendocrine tumors with different ki67‐based grades Simbolo, M.; Bilotta, M.; Mafficini, A.; Luchini, C.; Furlan, D.; Inzani, F.; Petrone, G.; Bonvissuto, D.; Rosa, S. L.; Schinzari, G.; Bianchi, A.; Rossi, E.; Menghi, R.; Giuliante, F.; Boccia, S.; Scarpa, A.; Rindi, G.
1-gen-2021 Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein D'Anzi, A.; Altieri, F.; Perciballi, E.; Ferrari, D.; Torres, B.; Bernardini, L.; Lattante, Serena; Sabatelli, Mario; Vescovi, A. L.; Rosati, J.
1-gen-2017 Genetic advances in craniosynostosis Lattanzi, Wanda; Barba, Marta; Di Pietro, Lorena; Boyadjiev, Simeon A.
1-gen-2005 Genetic and epigenetic alterations of RB2/p130 tumor suppressor gene in human sporadic retinoblastoma: Implications for pathogenesis and therapeutic approach Tosi, Gian Marco; Trimarchi, Carmela; Macaluso, Marcella; La Sala, Dario; Ciccodicola, Alfredo; Lazzi, Stefano; Massaro-Giordano, Mina; Caporossi, Aldo; Giordano, Antonio; Cinti, Caterina
1-gen-2015 Genetic and physiological bases of healthy attributes of grapes and wine Bavaresco, Luigi; Morreale, G.; Flamini, R.
1-gen-2015 Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges Marangi, Giuseppe; Traynor, Bryan J.
1-gen-2021 Genetic characterization and implications for conservation of the last autochthonous Mouflon population in Europe Satta, V.; Mereu, P.; Barbato, Mario; Pirastru, M.; Bassu, G.; Manca, L.; Naitana, S.; Leoni, G. G.
1-gen-1996 Genetic counseling in hereditary non-polyposis colorectal cancer Heouaine, A; Mareni, C; Varesco, L; Genuardi, Maurizio; Neri, G
1-gen-2006 A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability Marroni, F; Pastrello, C; Benatti, P; Torrini, M; Barana, D; Cordisco, E; Viel, A; Mareni, C; Oliani, C; Genuardi, Maurizio; Bailey-Wilson, J; de Leon, M; Presciuttini, S
1-gen-2019 Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths Martinez-Matilla, M.; Blanco-Verea, A.; Santori, M.; Ansede-Bermejo, J.; Ramos-Luis, E.; Gil, R.; Bermejo, A. M.; Lotufo-Neto, F.; Hirata, M. H.; Brisighelli, Francesca; Paramo, M.; Carracedo, A.; Brion, M.
1-gen-2004 Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer de Leon, M; Benatti, P; Di Gregorio, C; Pedroni, M; Losi, L; Genuardi, M; Viel, A; Fornasarig, M; Lucci-Cordisco, E; Anti, M; Ponti, G; Borghi, F; Lamberti, I; Roncucci, L
Mostrati risultati da 66 a 85 di 240
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