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
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy
2020 Tiziano, Francesco Danilo; Tizzano, E. F.
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines
1999 Genuardi, Maurizio; Pomponi, Massimiliano; Torrisi, L; Neri, G; Stagni, M; Tozzi, Claudio
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
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2020 | 25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy | Tiziano, Francesco Danilo; Tizzano, E. F. | |
| 1-gen-1999 | 45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines | Genuardi, Maurizio; Pomponi, Massimiliano; Torrisi, L; Neri, G; Stagni, M; Tozzi, Claudio | |
| 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 |
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