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
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
2019 Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease
2019 Pelusi, Serena; Baselli, Guido; Pietrelli, Alessandro; Dongiovanni, Paola; Donati, Maria Benedetta; Mccain, Misti Vanette; Meroni, Marica; Fracanzani, Anna Ludovica; Romagnoli, Renato; Petta, Salvatore; Grieco, Antonio; Miele, Luca; Soardo, Giorgio; Bugianesi, Elisabetta; Fargion, Silvia; Aghemo, Alessio; D'Ambrosio, Roberta; Xing, Chao; Romeo, Stefano; De Francesco, Raffaele; Reeves, Helen Louise; Valenti, Luca Vittorio Carlo
Recent developments in olive (Olea europaea L.) genetics and genomics: applications in taxonomy, varietal identification, traceability and breeding
2017 Sebastiani, L; Busconi, Matteo
Recognizable facial features in patients with alternating hemiplegia of childhood.
2016 Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni
Recommendations for genetic counseling of familial adenomatous polyposis
1997 Guanti, G; Varesco, L; Crotti, N; Heouaine, A; De Stefano, F; Genuardi, Maurizio
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients
2016 Pinto, Carmine; Bella, Maria Angela; Capoluongo, Ettore Domenico; Carrera, Paola; Clemente, Claudio; Colombo, Nicoletta; Cortesi, Laura; De Rosa, Gaetano; Fenizia, Francesca; Genuardi, Maurizio; Gori, Stefania; Guarneri, Valentina; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Dello Russo, Antonio; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Truini, Mauro; Varesco, Liliana
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
2016 Vogelaar, Ingrid P.; Ligtenberg, Marjolijn J. L.; van der Post, Rachel S.; de Voer, Richarda M.; Kets, C. Marleen; Jansen, Trees J. G.; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I. Jolanda M.; Netea, Mihai G.; Hoogerbrugge, Nicoline; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Schackert, Hans K.; Aalfs, Cora M.; Gómez García, Encarna B.; Ranzani, Guglielmina N.; Molinaro, Valeria; van Hest, Liselotte P.; Hes, Frederik J.; Holinski Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Pinheiro, Hugo; Oliveira, Carla; Bjørnevoll, Inga; Høberg Vetti, Hildegunn; Han, J.; van Krieken, J. M.
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers
2005 Morganti, Margaux; Ciantelli, M; Giglioni, B; Putignano, A; Nobili, S; Papi, L; Landini, I; Napoli, Chiara; Valanzano, R; Cianchi, F; Boddi, V; Tonelli, F; Cortesini, C; Mazzei, T; Genuardi, Maurizio; Mini, E
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis
2021 D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
2020 Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
2013 Vasen, H. F. A.; Blanco, I.; Aktan-Collan, K.; Gopie, J. P.; Alonso, A.; Aretz, S.; Bernstein, I.; Bertario, L.; Burn, J.; Capella, G.; Colas, C.; Engel, C.; Frayling, I. M.; Genuardi, Maurizio; Hes, F. J.; Hodgson, S. V.; Karagiannis, J. A.; Lalloo, F.; Lindblom, A.; Mecklin, J. -P.; Moller, P.; Myrhoj, T.; Nagengast, F. M.; Parc, Y.; De Leon, M. P.; Renkonen-Sinisalo, L.; Sampson, J. R.; Stormorken, A.; Sijmons, R. H.; Tejpar, S.; Thomas, H. J. W.; Rahner, N.; Wijnen, J. T.; Jarvinen, H. J.; Moslein, G.
Rho kinase inhibition is essential during in vitro neurogenesis and promotes phenotypic rescue of human induced pluripotent stem cell-derived neurons with oligophrenin-1 loss of function
2016 Compagnucci, Claudia; Barresi, Sabina; Petrini, Stefania; Billuart, Pierre; Piccini, Giorgia; Chiurazzi, Pietro; Alfieri, Paolo; Bertini, Enrico; Zanni, Ginevra
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
2016 Olsen, Rikke K. J; Koňaříková, Eliška; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza', Daniela; Zollino, Marcella; Ghezzi, Daniele Maria; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger
Rising Roles of Small Noncoding RNAs in Cotranscriptional Regulation: In Silico Study of miRNA and piRNA Regulatory Network in Humans
2020 Chetta, Massimiliano; Di Pietro, Lorena; Bukvic, Nenad; Lattanzi, Wanda
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death
2016 Tiziano, Francesco Danilo; Palmieri, Vincenzo; Genuardi, Maurizio; Zeppilli, Paolo
The role of molecular typing and perfect match transfusion in sickle cell disease and thalassaemia: An innovative transfusion strategy
2017 Putzulu, Rossana; Piccirillo, Nicola; Orlando, Nicoletta; Massini, Giuseppina; Maresca, Maddalena; Scavone, Fernando; Ricerca Storti, Bianca Maria; Zini Tanzi, Gina
Sarcomatoid adrenocortical carcinoma: a comprehensive pathological, immunohistochemical, and targeted next-generation sequencing analysis
2016 Papathomas Thomas, G; Duregon, Eleonora; Korpershoek, Esther; Restuccia David, F; van Marion, R; Cappellesso, Rocco; Sturm, N; Rossi, Giulio; Coli, Antonella; Zucchini, Nicola; Stoop, Hans; Oosterhuis, Wolter; Ventura, Laura; Volante, Marco; Fassina, Ambrogio; Dinjens Winand, Nm; Papotti, Mauro; de Krijger Ronald, R
Screening for resistance to Fusarium ear rot disease in the USA maize inbred line collection using a rolled towel assay.
2016 Stagnati, Lorenzo; Lanubile, Alessandra; Busconi, Matteo; Battilani, Paola; Holland, J; Marocco, Adriano
Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results
2008 Plon, S; Eccles, D; Easton, D; Foulkes, W; Genuardi, Maurizio; Greenblatt, M; Hogervorst, F; Hoogerbrugge, N; Spurdle, A; Tavtigian, S
Simple and complex genetics of colorectal cancer susceptibility
2004 Baglioni, S; Genuardi, Maurizio
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2019 | Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. | Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele | |
| 1-gen-2019 | Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease | Pelusi, Serena; Baselli, Guido; Pietrelli, Alessandro; Dongiovanni, Paola; Donati, Maria Benedetta; Mccain, Misti Vanette; Meroni, Marica; Fracanzani, Anna Ludovica; Romagnoli, Renato; Petta, Salvatore; Grieco, Antonio; Miele, Luca; Soardo, Giorgio; Bugianesi, Elisabetta; Fargion, Silvia; Aghemo, Alessio; D'Ambrosio, Roberta; Xing, Chao; Romeo, Stefano; De Francesco, Raffaele; Reeves, Helen Louise; Valenti, Luca Vittorio Carlo | |
| 1-gen-2017 | Recent developments in olive (Olea europaea L.) genetics and genomics: applications in taxonomy, varietal identification, traceability and breeding | Sebastiani, L; Busconi, Matteo | |
| 1-gen-2016 | Recognizable facial features in patients with alternating hemiplegia of childhood. | Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni | |
| 1-gen-1997 | Recommendations for genetic counseling of familial adenomatous polyposis | Guanti, G; Varesco, L; Crotti, N; Heouaine, A; De Stefano, F; Genuardi, Maurizio | |
| 1-gen-2016 | Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients | Pinto, Carmine; Bella, Maria Angela; Capoluongo, Ettore Domenico; Carrera, Paola; Clemente, Claudio; Colombo, Nicoletta; Cortesi, Laura; De Rosa, Gaetano; Fenizia, Francesca; Genuardi, Maurizio; Gori, Stefania; Guarneri, Valentina; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Dello Russo, Antonio; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Truini, Mauro; Varesco, Liliana | |
| 1-gen-2016 | Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect | Vogelaar, Ingrid P.; Ligtenberg, Marjolijn J. L.; van der Post, Rachel S.; de Voer, Richarda M.; Kets, C. Marleen; Jansen, Trees J. G.; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I. Jolanda M.; Netea, Mihai G.; Hoogerbrugge, Nicoline; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Schackert, Hans K.; Aalfs, Cora M.; Gómez García, Encarna B.; Ranzani, Guglielmina N.; Molinaro, Valeria; van Hest, Liselotte P.; Hes, Frederik J.; Holinski Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Pinheiro, Hugo; Oliveira, Carla; Bjørnevoll, Inga; Høberg Vetti, Hildegunn; Han, J.; van Krieken, J. M. | |
| 1-gen-2005 | Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers | Morganti, Margaux; Ciantelli, M; Giglioni, B; Putignano, A; Nobili, S; Papi, L; Landini, I; Napoli, Chiara; Valanzano, R; Cianchi, F; Boddi, V; Tonelli, F; Cortesini, C; Mazzei, T; Genuardi, Maurizio; Mini, E | |
| 1-gen-2021 | Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis | D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel | |
| 1-gen-2020 | Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families | Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro | |
| 1-gen-2013 | Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. | Vasen, H. F. A.; Blanco, I.; Aktan-Collan, K.; Gopie, J. P.; Alonso, A.; Aretz, S.; Bernstein, I.; Bertario, L.; Burn, J.; Capella, G.; Colas, C.; Engel, C.; Frayling, I. M.; Genuardi, Maurizio; Hes, F. J.; Hodgson, S. V.; Karagiannis, J. A.; Lalloo, F.; Lindblom, A.; Mecklin, J. -P.; Moller, P.; Myrhoj, T.; Nagengast, F. M.; Parc, Y.; De Leon, M. P.; Renkonen-Sinisalo, L.; Sampson, J. R.; Stormorken, A.; Sijmons, R. H.; Tejpar, S.; Thomas, H. J. W.; Rahner, N.; Wijnen, J. T.; Jarvinen, H. J.; Moslein, G. | |
| 1-gen-2016 | Rho kinase inhibition is essential during in vitro neurogenesis and promotes phenotypic rescue of human induced pluripotent stem cell-derived neurons with oligophrenin-1 loss of function | Compagnucci, Claudia; Barresi, Sabina; Petrini, Stefania; Billuart, Pierre; Piccini, Giorgia; Chiurazzi, Pietro; Alfieri, Paolo; Bertini, Enrico; Zanni, Ginevra | |
| 1-gen-2016 | Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency | Olsen, Rikke K. J; Koňaříková, Eliška; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza', Daniela; Zollino, Marcella; Ghezzi, Daniele Maria; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger | |
| 1-gen-2020 | Rising Roles of Small Noncoding RNAs in Cotranscriptional Regulation: In Silico Study of miRNA and piRNA Regulatory Network in Humans | Chetta, Massimiliano; Di Pietro, Lorena; Bukvic, Nenad; Lattanzi, Wanda | |
| 1-gen-2016 | The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death | Tiziano, Francesco Danilo; Palmieri, Vincenzo; Genuardi, Maurizio; Zeppilli, Paolo | |
| 1-gen-2017 | The role of molecular typing and perfect match transfusion in sickle cell disease and thalassaemia: An innovative transfusion strategy | Putzulu, Rossana; Piccirillo, Nicola; Orlando, Nicoletta; Massini, Giuseppina; Maresca, Maddalena; Scavone, Fernando; Ricerca Storti, Bianca Maria; Zini Tanzi, Gina | |
| 1-gen-2016 | Sarcomatoid adrenocortical carcinoma: a comprehensive pathological, immunohistochemical, and targeted next-generation sequencing analysis | Papathomas Thomas, G; Duregon, Eleonora; Korpershoek, Esther; Restuccia David, F; van Marion, R; Cappellesso, Rocco; Sturm, N; Rossi, Giulio; Coli, Antonella; Zucchini, Nicola; Stoop, Hans; Oosterhuis, Wolter; Ventura, Laura; Volante, Marco; Fassina, Ambrogio; Dinjens Winand, Nm; Papotti, Mauro; de Krijger Ronald, R | |
| 1-gen-2016 | Screening for resistance to Fusarium ear rot disease in the USA maize inbred line collection using a rolled towel assay. | Stagnati, Lorenzo; Lanubile, Alessandra; Busconi, Matteo; Battilani, Paola; Holland, J; Marocco, Adriano | |
| 1-gen-2008 | Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results | Plon, S; Eccles, D; Easton, D; Foulkes, W; Genuardi, Maurizio; Greenblatt, M; Hogervorst, F; Hoogerbrugge, N; Spurdle, A; Tavtigian, S | |
| 1-gen-2004 | Simple and complex genetics of colorectal cancer susceptibility | Baglioni, S; Genuardi, Maurizio |
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