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
Adaptive introgression from indicine cattle into white cattle breeds from Central Italy
2020 Barbato, Mario; Hailer, Frank; Upadhyay, Maulik; Del Corvo, Marcello; Colli, Licia; Negrini, Riccardo; Kim, Eui-Soo; Crooijmans, Richard P. M. A.; Sonstegard, Tad; Ajmone Marsan, Paolo
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant
2019 Minucci, Angelo; Lalle, M; De Leo, R; Mazzuccato, G; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Concolino, P; Capoluongo, E
Advances in the genetics of progressive myoclonus epilepsy
2001 Torrisi, L.; Sangiorgi, Eugenio; Russo, L.; Gurrieri, Fiorella
Advances in understanding - genetic basis of intellectual disability
2016 Chiurazzi, Pietro; Pirozzi, Filomena
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
2016 Vanacore, N; Rastelli, E; Antonini, G; Bianchi, Maria Laura Ester; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, Anna; Novelli, Giuseppe; Pennisi, Em; Petrucci, A; Piantadosi, C; Silvestri, Gabriella; Terracciano, C; Massa, R.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene
2020 Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E.
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients
2021 Cordani, R.; Stagnaro, M.; Pisciotta, L.; Tiziano, F. D.; Calevo, M. G.; Nobili, L.; De Grandis, E.
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation
2006 Fatini, C; Sticchi, E; Genuardi, Maurizio; Sofi, F; Gensini, F; Gori, A; Lenti, M; Michelucci, A; Abbate, R; Gensini, G
Application of an Integrated and Open Source Workflow for LC-HRMS Plant Metabolomics Studies. Case-Control Study: Metabolic Changes of Maize in Response to Fusarium verticillioides Infection
2020 Ciasca, B.; Lanubile, Alessandra; Marocco, Adriano; Pascale, M.; Logrieco, A. F.; Lattanzio, V. M. T.
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2
1999 Genuardi, Maurizio; Carrara, S; Anti, M; de Leon, M; Viel, A
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
2017 Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurélie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B.; Nyström, Minna; Genuardi, Maurizio
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
2017 Tricarico, R; Kasela, M; Mareni, C; Thompson, Ba; Drouet, A; Staderini, L; Gorelli, G; Crucianelli, F; Ingrosso, V; Kantelinen, J; Papi, L; De Angioletti, M; Berardi, M; Gaildrat, P; Soukarieh, O; Turchetti, D; Martins, A; Spurdle, Ab; Nyström, M; Genuardi, Maurizio
Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma
1998 Cattani, P; Hohaus, S; Bellacosa, A; Genuardi, M; Cavallo, S; Rovella, V; Almadori, G; Cadoni, G; Galli, J; Maurizi, M; Fadda, G; Neri, G
Association of putative fungal effectors in Fusarium oxysporum with wilt symptoms in soybean
2016 Ellis, Margaret L.; Lanubile, Alessandra; Garcia, Charlie; Munkvold, Gary P.
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.
2017 Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, Giovanni; Gurrieri, Fiorella; Angelini, C
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
2018 Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, Fiorella; Parrini, E; Prato, G; Veneselli, E; De Grandis, E.
ATXN2 trinucleotide repeat length correlates with risk of ALS
2017 Sproviero, William; Shatunov, Aleksey; Stahl, Daniel; Shoai, Maryam; van Rheenen, Wouter; Jones, Ashley R; Al Sarraj, Safa; Andersen, Peter M; Bonini, Nancy M; Conforti, Francesca L; Van Damme, Philip; Daoud, Hussein; Del Mar Amador, Maria; Fogh, Isabella; Forzan, Monica; Gaastra, Ben; Gellera, Cinzia; Gitler, Aaron D; Hardy, John; Fratta, Pietro; La Bella, Vincenzo; Le Ber, Isabelle; Van Langenhove, Tim; Lattante, Serena; Lee, Yi Chung; Malaspina, Andrea; Meininger, Vincent; Millecamps, Stéphanie; Orrell, Richard; Rademakers, Rosa; Robberecht, Wim; Rouleau, Guy; Ross, Owen A; Salachas, Francois; Sidle, Katie; Smith, Bradley N; Soong, Bing Wen; Sorarù, Gianni; Stevanin, Giovanni; Kabashi, Edor; Troakes, Claire; van Broeckhoven, Christine; Veldink, Jan H; van den Berg, Leonard H; Shaw, Christopher E; Powell, John F; Al Chalabi, Ammar
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
2017 Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco
The Auxin-Deficient Defective Kernel18 (dek18) Mutation Alters the Expression of Seed-Specific Biosynthetic Genes in Maize
2016 Bernardi, Jamila; Li, Qin Bao; Gao, Yangbin; Zhao, Yunde; Battaglia, Raffaella; Marocco, Adriano; Chourey, Prem S.
Basic and Preclinical Research for Personalized Medicine
2021 Lattanzi, Wanda; Ripoli, Cristian; Greco, Viviana; Barba, Marta; Iavarone, Federica; Minucci, Angelo; Urbani, Andrea; Grassi, Claudio; Parolini, Ornella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2020 | Adaptive introgression from indicine cattle into white cattle breeds from Central Italy | Barbato, Mario; Hailer, Frank; Upadhyay, Maulik; Del Corvo, Marcello; Colli, Licia; Negrini, Riccardo; Kim, Eui-Soo; Crooijmans, Richard P. M. A.; Sonstegard, Tad; Ajmone Marsan, Paolo | |
| 1-gen-2019 | Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant | Minucci, Angelo; Lalle, M; De Leo, R; Mazzuccato, G; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Concolino, P; Capoluongo, E | |
| 1-gen-2001 | Advances in the genetics of progressive myoclonus epilepsy | Torrisi, L.; Sangiorgi, Eugenio; Russo, L.; Gurrieri, Fiorella | |
| 1-gen-2016 | Advances in understanding - genetic basis of intellectual disability | Chiurazzi, Pietro; Pirozzi, Filomena | |
| 1-gen-2016 | An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. | Vanacore, N; Rastelli, E; Antonini, G; Bianchi, Maria Laura Ester; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, Anna; Novelli, Giuseppe; Pennisi, Em; Petrucci, A; Piantadosi, C; Silvestri, Gabriella; Terracciano, C; Massa, R. | |
| 1-gen-2020 | Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene | Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E. | |
| 1-gen-2021 | Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients | Cordani, R.; Stagnaro, M.; Pisciotta, L.; Tiziano, F. D.; Calevo, M. G.; Nobili, L.; De Grandis, E. | |
| 1-gen-2006 | Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation | Fatini, C; Sticchi, E; Genuardi, Maurizio; Sofi, F; Gensini, F; Gori, A; Lenti, M; Michelucci, A; Abbate, R; Gensini, G | |
| 1-gen-2020 | Application of an Integrated and Open Source Workflow for LC-HRMS Plant Metabolomics Studies. Case-Control Study: Metabolic Changes of Maize in Response to Fusarium verticillioides Infection | Ciasca, B.; Lanubile, Alessandra; Marocco, Adriano; Pascale, M.; Logrieco, A. F.; Lattanzio, V. M. T. | |
| 1-gen-1999 | Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 | Genuardi, Maurizio; Carrara, S; Anti, M; de Leon, M; Viel, A | |
| 1-gen-2017 | Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants | Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurélie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B.; Nyström, Minna; Genuardi, Maurizio | |
| 1-gen-2017 | Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. | Tricarico, R; Kasela, M; Mareni, C; Thompson, Ba; Drouet, A; Staderini, L; Gorelli, G; Crucianelli, F; Ingrosso, V; Kantelinen, J; Papi, L; De Angioletti, M; Berardi, M; Gaildrat, P; Soukarieh, O; Turchetti, D; Martins, A; Spurdle, Ab; Nyström, M; Genuardi, Maurizio | |
| 1-gen-1998 | Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma | Cattani, P; Hohaus, S; Bellacosa, A; Genuardi, M; Cavallo, S; Rovella, V; Almadori, G; Cadoni, G; Galli, J; Maurizi, M; Fadda, G; Neri, G | |
| 1-gen-2016 | Association of putative fungal effectors in Fusarium oxysporum with wilt symptoms in soybean | Ellis, Margaret L.; Lanubile, Alessandra; Garcia, Charlie; Munkvold, Gary P. | |
| 1-gen-2017 | ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. | Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, Giovanni; Gurrieri, Fiorella; Angelini, C | |
| 1-gen-2018 | ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. | Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, Fiorella; Parrini, E; Prato, G; Veneselli, E; De Grandis, E. | |
| 1-gen-2017 | ATXN2 trinucleotide repeat length correlates with risk of ALS | Sproviero, William; Shatunov, Aleksey; Stahl, Daniel; Shoai, Maryam; van Rheenen, Wouter; Jones, Ashley R; Al Sarraj, Safa; Andersen, Peter M; Bonini, Nancy M; Conforti, Francesca L; Van Damme, Philip; Daoud, Hussein; Del Mar Amador, Maria; Fogh, Isabella; Forzan, Monica; Gaastra, Ben; Gellera, Cinzia; Gitler, Aaron D; Hardy, John; Fratta, Pietro; La Bella, Vincenzo; Le Ber, Isabelle; Van Langenhove, Tim; Lattante, Serena; Lee, Yi Chung; Malaspina, Andrea; Meininger, Vincent; Millecamps, Stéphanie; Orrell, Richard; Rademakers, Rosa; Robberecht, Wim; Rouleau, Guy; Ross, Owen A; Salachas, Francois; Sidle, Katie; Smith, Bradley N; Soong, Bing Wen; Sorarù, Gianni; Stevanin, Giovanni; Kabashi, Edor; Troakes, Claire; van Broeckhoven, Christine; Veldink, Jan H; van den Berg, Leonard H; Shaw, Christopher E; Powell, John F; Al Chalabi, Ammar | |
| 1-gen-2017 | An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus | Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco | |
| 1-gen-2016 | The Auxin-Deficient Defective Kernel18 (dek18) Mutation Alters the Expression of Seed-Specific Biosynthetic Genes in Maize | Bernardi, Jamila; Li, Qin Bao; Gao, Yangbin; Zhao, Yunde; Battaglia, Raffaella; Marocco, Adriano; Chourey, Prem S. | |
| 1-gen-2021 | Basic and Preclinical Research for Personalized Medicine | Lattanzi, Wanda; Ripoli, Cristian; Greco, Viviana; Barba, Marta; Iavarone, Federica; Minucci, Angelo; Urbani, Andrea; Grassi, Claudio; Parolini, Ornella |
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