Sfoglia per ???browse.type.metadata.subjectErc2011??? LS2_9 - Genetic epidemiology
RANK/RANKL/OPG pathway: genetic association with history of ischemic stroke in Italian population
2016 Biscetti, Federico; Giovannini, Silvia; Straface, Giuseppe; Bertucci, Flavio; Angelini, Flavia; Porreca, Carlo Filippo; Landolfi, Raffaele; Flex, Andrea
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.
2009 Colombo, Roberto; Tavian, Daniela; Baker, Matthew; Richardson, Anna; Snowden, Julie; Neary, David; Mann, David; Pickering Brown, Stuart
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
2014 Leuzzi, V; Mastrangelo, M; . Polizzi, A; Artiola, C; Van Kuilenburg, A; Carducci, C; Ruggieri, M; Barone, R; Tavazzi, Barbara; Abeling, Nggm; Zoetekouw, L; Sofia, V; Zappia, T; Carducci, Cl
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy
2023 Placidi, Giorgio; Maltese, Paolo Enrico; Savastano, Maria Cristina; D'Agostino, Elena; Cestrone, Valentina; Bertelli, Matteo; Chiurazzi, Pietro; Maceroni, Martina; Minnella, Angelo Maria; Ziccardi, Lucia; Parisi, Vincenzo; Rizzo, Stanislao; Falsini, Benedetto
Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design
2010
Screening for Complex Diseases and Personalized Health Care
2015 Boccia, Stefania; Boffetta, P; Villari, P.
Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?
2012 Pola, Roberto; Sturiale, Carmelo Lucio; Puca, Alfredo; Albanese, Alessio; Di Rocco, Concezio; Maira, Giulio; Gatto, Ilaria; Sebastiani, Paola
Small effective population size and genetic homogeneity in the Val Borbera isolate
2012 Colonna, V; Pistis, G; Bomba, L; Mona, S; Matullo, G; Boano, R; Sala, C; Viganò, F; Torroni, A; Achilli, A; Hooshiar Kashani, B; Malerba, G; Gambaro, Giovanni; Soranzo, N; Toniolo, D; Bomba, Lorenzo
Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature
2021 Onesimo, Roberta; Versacci, P.; Delogu, Angelica Bibiana; De Rosa, Gabriella; Pugnaloni, F.; Blandino, Rita; Leoni, Chiara; Calcagni, G.; Digilio, M. C.; Zollino, Marcella; Marino, B.; Zampino, Giuseppe
'Stochastic' effects at balanced mixtures: a calibration study
2014 Pascali, Vincenzo Lorenzo; Merigioli, Sara
Susceptibility to Helicobacter pylori infection: results of an epidemiological investigation among gastric cancer patients
2014 Panic, N; Mastrostefano, Elena; Leoncini, Emanuele; Persiani, Roberto; Arzani, Dario; Amore, Rosarita; Ricci, Riccardo; Sicoli, Federico; Sioletic, Stefano; Bulajic, M; D'Ugo, Domenico; Ricciardi, Gualtiero; Boccia, Stefania
Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples
2017 Zollino, Marcella; Lattante, Serena; Orteschi, Daniela; Frangella, Silvia; Doronzio, Paolo Niccolo'; Contaldo, Ilaria; Mercuri, Eugenio Maria; Marangi, Giuseppe
The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract
2015 Delahaye Sourdeix, M; Oliver, J; Timofeeva, Mn; Gaborieau, V; Johansson, M; Chabrier, A; Wozniak, Mb; Brenner, Dr; Vallée, Mp; Anantharaman, D; Lagiou, P; Holcátová, I; Richiardi, L; Kjaerheim, K; Agudo, A; Castellsagué, X; Macfarlane, Tv; Barzan, L; Canova, C; Thakker, Ns; Conway, Di; Znaor, A; Healy, Cm; Ahrens, W; Zaridze, D; Szeszenia Dabrowska, N; Lissowska, J; Fabianova, E; Mates, In; Bencko, V; Foretova, L; Janout, V; Curado, Mp; Koifman, S; Menezes, A; Wünsch Filho, V; Eluf Neto, J; Boffetta, P; Garrote, Lf; Serraino, D; Lener, M; Jaworowska, E; Lubiński, J; Boccia, Stefania; Rajkumar, T; Samant, Ta; Mahimkar, Mb; Matsuo, K; Franceschi, S; Byrnes, G; Brennan, P; Mckay, Jd
The Effect of CYP, GST, and SULT Polymorphisms and Their Interaction with Smoking on the Risk of Hepatocellular Carcinoma
2015 Boccia, Stefania; Miele, Luca; Panic, N; Turati, F; Arzani, Dario; Cefalo, Consuelo; Amore, R; Bulajic, M; Pompili, Maurizio; Rapaccini, Gian Ludovico; Gasbarrini, Antonio; La Vecchia, C; Grieco, Antonio
The familiarity of idiopathic scoliosis: statistical analysis and clinical considerations
2012 Aulisa, Angelo Gabriele; Guzzanti, Vincenzo; Galli, Marco; Bottaro, G; Vitelli, O; Ferrara, Pietro; Logroscino, Giandomenico
The FRAXopathies: Definition, overview, and update
2011 Neri, Giovanni; Pirozzi, Filomena; Tabolacci, Elisabetta
The link between genetic variation and variability in vaccine responses: Systematic review and meta-analyses
2014 Posteraro, Brunella; Pastorino, Roberta; Di Giannantonio, Paolo; Ianuale, Carolina; Amore, Rosarita; Ricciardi, Walter; Boccia, Stefania
TNFRSF11B gene polymorphisms increased risk of peripheral arterial occlusive disease and critical limb ischemia in patients with type 2 diabetes
2014 Biscetti, Federico; Bertucci, Flavio; Straface, Giuseppe; Santoliquido, Angelo; Tondi, Paolo; Angelini, Flavia; Pitocco, Dario; Gasbarrini, Antonio; Landolfi, Raffaele; Flex, Andrea
Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant.
2012 Crotti, L; Hu, D; Barajas Martinez, H; De Ferrari, Gm; Oliva, Antonio; Insolia, R; Pollevick, G; Dagradi, F; Guerchicoff, A; Greco, F; Schwartz, Pj; Viskin, S; Antzelevitch, C.
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair
2012 Ferrero, Gb; Picco, G; Baldassarre, G; Flex, E; Isella, C; Cantarella, D; Corà, D; Chiesa, N; Crescenzio, N; Timeus, F; Merla, G; Mazzanti, L; Zampino, Giuseppe; Rossi, C; Silengo, M; Tartaglia, Marco; Medico, E.
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2016 | RANK/RANKL/OPG pathway: genetic association with history of ischemic stroke in Italian population | Biscetti, Federico; Giovannini, Silvia; Straface, Giuseppe; Bertucci, Flavio; Angelini, Flavia; Porreca, Carlo Filippo; Landolfi, Raffaele; Flex, Andrea | |
1-gen-2009 | Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. | Colombo, Roberto; Tavian, Daniela; Baker, Matthew; Richardson, Anna; Snowden, Julie; Neary, David; Mann, David; Pickering Brown, Stuart | |
1-gen-2014 | Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? | Leuzzi, V; Mastrangelo, M; . Polizzi, A; Artiola, C; Van Kuilenburg, A; Carducci, C; Ruggieri, M; Barone, R; Tavazzi, Barbara; Abeling, Nggm; Zoetekouw, L; Sofia, V; Zappia, T; Carducci, Cl | |
1-gen-2023 | Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy | Placidi, Giorgio; Maltese, Paolo Enrico; Savastano, Maria Cristina; D'Agostino, Elena; Cestrone, Valentina; Bertelli, Matteo; Chiurazzi, Pietro; Maceroni, Martina; Minnella, Angelo Maria; Ziccardi, Lucia; Parisi, Vincenzo; Rizzo, Stanislao; Falsini, Benedetto | |
1-gen-2010 | Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design | - | |
1-gen-2015 | Screening for Complex Diseases and Personalized Health Care | Boccia, Stefania; Boffetta, P; Villari, P. | |
1-gen-2012 | Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand? | Pola, Roberto; Sturiale, Carmelo Lucio; Puca, Alfredo; Albanese, Alessio; Di Rocco, Concezio; Maira, Giulio; Gatto, Ilaria; Sebastiani, Paola | |
1-gen-2012 | Small effective population size and genetic homogeneity in the Val Borbera isolate | Colonna, V; Pistis, G; Bomba, L; Mona, S; Matullo, G; Boano, R; Sala, C; Viganò, F; Torroni, A; Achilli, A; Hooshiar Kashani, B; Malerba, G; Gambaro, Giovanni; Soranzo, N; Toniolo, D; Bomba, Lorenzo | |
1-gen-2021 | Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature | Onesimo, Roberta; Versacci, P.; Delogu, Angelica Bibiana; De Rosa, Gabriella; Pugnaloni, F.; Blandino, Rita; Leoni, Chiara; Calcagni, G.; Digilio, M. C.; Zollino, Marcella; Marino, B.; Zampino, Giuseppe | |
1-gen-2014 | 'Stochastic' effects at balanced mixtures: a calibration study | Pascali, Vincenzo Lorenzo; Merigioli, Sara | |
1-gen-2014 | Susceptibility to Helicobacter pylori infection: results of an epidemiological investigation among gastric cancer patients | Panic, N; Mastrostefano, Elena; Leoncini, Emanuele; Persiani, Roberto; Arzani, Dario; Amore, Rosarita; Ricci, Riccardo; Sicoli, Federico; Sioletic, Stefano; Bulajic, M; D'Ugo, Domenico; Ricciardi, Gualtiero; Boccia, Stefania | |
1-gen-2017 | Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples | Zollino, Marcella; Lattante, Serena; Orteschi, Daniela; Frangella, Silvia; Doronzio, Paolo Niccolo'; Contaldo, Ilaria; Mercuri, Eugenio Maria; Marangi, Giuseppe | |
1-gen-2015 | The 12p13.33/RAD52 Locus and Genetic Susceptibility to Squamous Cell Cancers of Upper Aerodigestive Tract | Delahaye Sourdeix, M; Oliver, J; Timofeeva, Mn; Gaborieau, V; Johansson, M; Chabrier, A; Wozniak, Mb; Brenner, Dr; Vallée, Mp; Anantharaman, D; Lagiou, P; Holcátová, I; Richiardi, L; Kjaerheim, K; Agudo, A; Castellsagué, X; Macfarlane, Tv; Barzan, L; Canova, C; Thakker, Ns; Conway, Di; Znaor, A; Healy, Cm; Ahrens, W; Zaridze, D; Szeszenia Dabrowska, N; Lissowska, J; Fabianova, E; Mates, In; Bencko, V; Foretova, L; Janout, V; Curado, Mp; Koifman, S; Menezes, A; Wünsch Filho, V; Eluf Neto, J; Boffetta, P; Garrote, Lf; Serraino, D; Lener, M; Jaworowska, E; Lubiński, J; Boccia, Stefania; Rajkumar, T; Samant, Ta; Mahimkar, Mb; Matsuo, K; Franceschi, S; Byrnes, G; Brennan, P; Mckay, Jd | |
1-gen-2015 | The Effect of CYP, GST, and SULT Polymorphisms and Their Interaction with Smoking on the Risk of Hepatocellular Carcinoma | Boccia, Stefania; Miele, Luca; Panic, N; Turati, F; Arzani, Dario; Cefalo, Consuelo; Amore, R; Bulajic, M; Pompili, Maurizio; Rapaccini, Gian Ludovico; Gasbarrini, Antonio; La Vecchia, C; Grieco, Antonio | |
1-gen-2012 | The familiarity of idiopathic scoliosis: statistical analysis and clinical considerations | Aulisa, Angelo Gabriele; Guzzanti, Vincenzo; Galli, Marco; Bottaro, G; Vitelli, O; Ferrara, Pietro; Logroscino, Giandomenico | |
1-gen-2011 | The FRAXopathies: Definition, overview, and update | Neri, Giovanni; Pirozzi, Filomena; Tabolacci, Elisabetta | |
1-gen-2014 | The link between genetic variation and variability in vaccine responses: Systematic review and meta-analyses | Posteraro, Brunella; Pastorino, Roberta; Di Giannantonio, Paolo; Ianuale, Carolina; Amore, Rosarita; Ricciardi, Walter; Boccia, Stefania | |
1-gen-2014 | TNFRSF11B gene polymorphisms increased risk of peripheral arterial occlusive disease and critical limb ischemia in patients with type 2 diabetes | Biscetti, Federico; Bertucci, Flavio; Straface, Giuseppe; Santoliquido, Angelo; Tondi, Paolo; Angelini, Flavia; Pitocco, Dario; Gasbarrini, Antonio; Landolfi, Raffaele; Flex, Andrea | |
1-gen-2012 | Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant. | Crotti, L; Hu, D; Barajas Martinez, H; De Ferrari, Gm; Oliva, Antonio; Insolia, R; Pollevick, G; Dagradi, F; Guerchicoff, A; Greco, F; Schwartz, Pj; Viskin, S; Antzelevitch, C. | |
1-gen-2012 | Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair | Ferrero, Gb; Picco, G; Baldassarre, G; Flex, E; Isella, C; Cantarella, D; Corà, D; Chiesa, N; Crescenzio, N; Timeus, F; Merla, G; Mazzanti, L; Zampino, Giuseppe; Rossi, C; Silengo, M; Tartaglia, Marco; Medico, E. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile