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
A kindred with MYH-associated polyposis and pilomatricomas
2005 Baglioni, S; Melean, G; Gensini, F; Santucci, M; Scatizzi, M; Papi, L; Genuardi, Maurizio
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer
1998 Viel, A; Fornasarig, M; Novella, E; Genuardi, M; Capozzi, E; Pedroni, M; Santarosa, M; De Leon, M; Della Puppa, L; Anti, M; Boiocchi, M
LETM1 couples mitochondrial DNA metabolism and nutrient preference
2018 Durigon, Romina; Mitchell, Alice L; Jones, Aleck WE; Manole, Andreea; Mennuni, Mara; Hirst, Elizabeth MA; Houlden, Henry; Maragni, Giuseppe; Lattante, Serena; Doronzio, Paolo Niccolo'; Dalla Rosa, Ilaria; Zollino, Marcella; Holt, Ian J; Spinazzola, Antonella
Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex
1997 Genuardi, Maurizio; Gasparini, P; Neri, G; Zelante, L
Locus-Specific Databases and Recommendations to Strengthen Their Contribution to the Classification of Variants in Cancer Susceptibility Genes
2008 Greenblatt, M; Brody, L; Foulkes, W; Genuardi, Maurizio; Hofstra, R; Olivier, M; Plon, S; Sijmons, R; Sinilnikova, O; Spurdle, A
Lone and secondary nonvalvular atrial fibrillation: Role of a genetic susceptibility
2007 Fatini, C; Sticchi, E; Gensini, F; Gori, A; Marcucci, R; Lenti, M; Michelucci, A; Genuardi, M; Abbate, R; Gensini, G
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
2013 Ciura, S; Lattante, Serena; Le Ber, I; Latouche, M; Tostivint, H; Brice, A; Kabashi, E.
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4
2009 Ercolino, T; Taurino, C; Sestini, R; Bacca, A; Genuardi, Maurizio; Mannelli, M; Bernini, Giovanni Paolo
Maternal-fetal flow, negative events, and preeclampsia - Role of ACE I/D polymorphism
2003 Mello, G; Parretti, E; Gensini, F; Sticchi, E; Mecacci, F; Scarselli, G; Genuardi, M; Abbate, R; Fatini, C
Matrin 3 variants are frequent in Italian ALS patients
2017 Marangi, Giuseppe; Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, Amelia; Tasca, Giorgio; Monforte, Mauro; Patanella, Agata Katia; Bisogni, Giulia; Meleo, Emiliana; La Spada, Salvatore; Zollino, Marcella; Sabatelli, Mario
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1
1999 Bellacosa, A; Cicchillitti, L; Schepis, F; Riccio, A; Yeung, A; Matsumoto, Y; Golemis, E; Genuardi, Maurizio; Neri, G
Metabolic, enzymatic and gene involvement in cerebral glucose dysmetabolism after traumatic brain injury
2016 Amorini, Angela Maria; Lazzarino, Giacomo; Di Pietro, Valentina; Signoretti, Stefano; Lazzarino, Giuseppe; Belli, Antonio; Tavazzi, Barbara
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
2020 Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, Veronica; Pennacchio, G.; Gurrieri, Fiorella; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro
Micro and macro geographical analysis of Y-chromosome lineages in South Iberia
2017 Rey gonzã¡lez, D.; Gelabert besada, M.; Cruz, R.; Brisighelli, Francesca; Lopez soto, M.; Rasool, M.; Naseer, M. I.; Sã¡nchez diz, P.; Carracedo, A.
Microsatellite instability is an independent indicator of recurrence in sporadic stage I-II endometrial adenocarcinoma
2001 Fiumicino, S; Ercoli, A; Ferrandina, G; Hess, P; Raspaglio, G; Genuardi, M; Rovella, V; Bellacosa, A; Cicchillitti, L; Mancuso, S; Bignami, M; Scambia, G
Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer
2005 Ercoli, Alfredo; Ferrandina, Maria Gabriella; Genuardi, Maurizio; Zannoni, Gian Franco; Cicchillitti, L; Raspaglio, G; Carrara, S; Mancuso, S; Scambia, Giovanni
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
2021 Ciaccio, C.; Duga, V.; Pantaleoni, C.; Esposito, S.; Moroni, I.; Pinelli, M.; Castello, R.; Nigro, V.; Chiapparini, L.; D'Arrigo, S.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, Marcella; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.
Mitochondrial DNA lineages of Italian Giara and Sarcidano horses
2014 Morelli, L.; Useli, A.; Sanna, D.; Barbato, M.; Contu, D.; Pala, M.; Cancedda, M.; Francalacci, P.
MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer
1998 Genuardi, Maurizio; Anti, M; Capozzi, E; Leonardi, F; Fornasarig, M; Novella, E; Bellacosa, A; Valenti, A; Gasbarrini, Giovanni Battista; Roncucci, L; Benatti, P; Percesepe, A; de Leon, M; Coco, Claudio; de Paoli, A; Valentini, M; Boiocchi, M; Neri, G; Viel, A
Molecular characterization of Citrus cultivars: Insight from recent studies
2014 Bernardi, Jamila; Marocco, Adriano; Caruso, P.; Licciardello, C.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2005 | A kindred with MYH-associated polyposis and pilomatricomas | Baglioni, S; Melean, G; Gensini, F; Santucci, M; Scatizzi, M; Papi, L; Genuardi, Maurizio | |
1-gen-1998 | Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer | Viel, A; Fornasarig, M; Novella, E; Genuardi, M; Capozzi, E; Pedroni, M; Santarosa, M; De Leon, M; Della Puppa, L; Anti, M; Boiocchi, M | |
1-gen-2018 | LETM1 couples mitochondrial DNA metabolism and nutrient preference | Durigon, Romina; Mitchell, Alice L; Jones, Aleck WE; Manole, Andreea; Mennuni, Mara; Hirst, Elizabeth MA; Houlden, Henry; Maragni, Giuseppe; Lattante, Serena; Doronzio, Paolo Niccolo'; Dalla Rosa, Ilaria; Zollino, Marcella; Holt, Ian J; Spinazzola, Antonella | |
1-gen-1997 | Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex | Genuardi, Maurizio; Gasparini, P; Neri, G; Zelante, L | |
1-gen-2008 | Locus-Specific Databases and Recommendations to Strengthen Their Contribution to the Classification of Variants in Cancer Susceptibility Genes | Greenblatt, M; Brody, L; Foulkes, W; Genuardi, Maurizio; Hofstra, R; Olivier, M; Plon, S; Sijmons, R; Sinilnikova, O; Spurdle, A | |
1-gen-2007 | Lone and secondary nonvalvular atrial fibrillation: Role of a genetic susceptibility | Fatini, C; Sticchi, E; Gensini, F; Gori, A; Marcucci, R; Lenti, M; Michelucci, A; Genuardi, M; Abbate, R; Gensini, G | |
1-gen-2013 | Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis | Ciura, S; Lattante, Serena; Le Ber, I; Latouche, M; Tostivint, H; Brice, A; Kabashi, E. | |
1-gen-2009 | Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4 | Ercolino, T; Taurino, C; Sestini, R; Bacca, A; Genuardi, Maurizio; Mannelli, M; Bernini, Giovanni Paolo | |
1-gen-2003 | Maternal-fetal flow, negative events, and preeclampsia - Role of ACE I/D polymorphism | Mello, G; Parretti, E; Gensini, F; Sticchi, E; Mecacci, F; Scarselli, G; Genuardi, M; Abbate, R; Fatini, C | |
1-gen-2017 | Matrin 3 variants are frequent in Italian ALS patients | Marangi, Giuseppe; Lattante, Serena; Doronzio, Paolo Niccolo'; Conte, Amelia; Tasca, Giorgio; Monforte, Mauro; Patanella, Agata Katia; Bisogni, Giulia; Meleo, Emiliana; La Spada, Salvatore; Zollino, Marcella; Sabatelli, Mario | |
1-gen-1999 | MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 | Bellacosa, A; Cicchillitti, L; Schepis, F; Riccio, A; Yeung, A; Matsumoto, Y; Golemis, E; Genuardi, Maurizio; Neri, G | |
1-gen-2016 | Metabolic, enzymatic and gene involvement in cerebral glucose dysmetabolism after traumatic brain injury | Amorini, Angela Maria; Lazzarino, Giacomo; Di Pietro, Valentina; Signoretti, Stefano; Lazzarino, Giuseppe; Belli, Antonio; Tavazzi, Barbara | |
1-gen-2020 | Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation | Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Nobile, Veronica; Pennacchio, G.; Gurrieri, Fiorella; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro | |
1-gen-2017 | Micro and macro geographical analysis of Y-chromosome lineages in South Iberia | Rey gonzã¡lez, D.; Gelabert besada, M.; Cruz, R.; Brisighelli, Francesca; Lopez soto, M.; Rasool, M.; Naseer, M. I.; Sã¡nchez diz, P.; Carracedo, A. | |
1-gen-2001 | Microsatellite instability is an independent indicator of recurrence in sporadic stage I-II endometrial adenocarcinoma | Fiumicino, S; Ercoli, A; Ferrandina, G; Hess, P; Raspaglio, G; Genuardi, M; Rovella, V; Bellacosa, A; Cicchillitti, L; Mancuso, S; Bignami, M; Scambia, G | |
1-gen-2005 | Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer | Ercoli, Alfredo; Ferrandina, Maria Gabriella; Genuardi, Maurizio; Zannoni, Gian Franco; Cicchillitti, L; Raspaglio, G; Carrara, S; Mancuso, S; Scambia, Giovanni | |
1-gen-2021 | Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant | Ciaccio, C.; Duga, V.; Pantaleoni, C.; Esposito, S.; Moroni, I.; Pinelli, M.; Castello, R.; Nigro, V.; Chiapparini, L.; D'Arrigo, S.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, Marcella; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C. | |
1-gen-2014 | Mitochondrial DNA lineages of Italian Giara and Sarcidano horses | Morelli, L.; Useli, A.; Sanna, D.; Barbato, M.; Contu, D.; Pala, M.; Cancedda, M.; Francalacci, P. | |
1-gen-1998 | MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer | Genuardi, Maurizio; Anti, M; Capozzi, E; Leonardi, F; Fornasarig, M; Novella, E; Bellacosa, A; Valenti, A; Gasbarrini, Giovanni Battista; Roncucci, L; Benatti, P; Percesepe, A; de Leon, M; Coco, Claudio; de Paoli, A; Valentini, M; Boiocchi, M; Neri, G; Viel, A | |
1-gen-2014 | Molecular characterization of Citrus cultivars: Insight from recent studies | Bernardi, Jamila; Marocco, Adriano; Caruso, P.; Licciardello, C. |
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