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1Academic Journal
Authors: Leonardo Villani, Angelo Maria Pezzullo, Roberta Pastorino, Alessandra Maio, Francesca Stollagli, Chiara Tirone, Marta Barba, Angela Maria Cozzolino, Denise Pires Marafon, Martina Porcelli, Annamaria Sbordone, Maria Letizia Patti, Anthea Bottoni, Angela Paladini, Simona Fattore, Domenico Marco Romeo, Ornella Parolini, Wanda Lattanzi, Guido Rindi, Luca Tamagnone, Marco Marazza, Maurizio Genuardi, Elisabetta Tabolacci, Eugenio Maria Mercuri, Antonio Chiaretti, Tina Pasciuto, Maurizio Sanguinetti, Vincenzo Valentini, Giovanni Scambia, Walter Ricciardi, Giovanni Vento, Antonio Lanzone, Stefania Boccia
Source: PLoS ONE, Vol 20, Iss 1, p e0317458 (2025)
File Description: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2Academic Journal
Authors: Emilia Stellacci, Simone Martinelli, Pietro Carbone, Elena Demuru, Maurizio Genuardi, Paola Ghiorzo, Giuseppe Novelli, Alessandra Di Pucchio, Federica Maria Regini, Debora Guerrera, Andrea Vittozzi, Donatella Barbina, Serenella Venanzi, Marc van den Bulcke, Stefania Boccia, Alfonso Mazzaccara, Arcangela De Nicolo, Roberta De Angelis
Source: Frontiers in Medicine, Vol 11 (2024)
Subject Terms: distance learning, genetic/medical education, oncogenomic literacy, problem-based learning, personalized medicine, health professionals, Medicine (General), R5-920
File Description: electronic resource
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3Academic Journal
Authors: Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De Stefano, Rossella Brando, Domenica Puntorieri, Luca Cento, Maurizio Genuardi, Elena Falcone
Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Subject Terms: 3q29 microduplication, array‐CGH, CNV, minimal critical region, neurodevelopmental phenotypes, Genetics, QH426-470
File Description: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4Academic Journal
Authors: Denis Horgan, Barbara Moss, Stefania Boccia, Maurizio Genuardi, Maciej Gajewski, Gabriele Capurso, Pierre Fenaux, Beatrice Gulbis, Mariangela Pellegrini, Maria del Mar Mañú Pereira, Victoria Gutiérrez Valle, Iñaki Gutiérrez Ibarluzea, Alastair Kent, Ivana Cattaneo, Beata Jagielska, Ivica Belina, Birute Tumiene, Adrian Ward, Marisa Papaluca
Source: Biomedicine Hub, Vol 5, Iss 2, Pp 143-153 (2020)
Subject Terms: rare disease, regulatory, member states, orphan regulation, european commission, patients, personalised healthcare, incentives, challenges, access, biosimilars, unmet need, reimbursement, diagnostics, biomarkers, inequality, treatment, data, ultra-rare disease, empowerment, patient, citizens, Medicine (General), R5-920
File Description: electronic resource
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5Academic Journal
Authors: Valeria Novelli, Antonio Bisignani, Gemma Pelargonio, Guido Primiano, Maria Lucia Narducci, Vincenzo Palmieri, Francesco Danilo Tiziano, Paolo Zeppilli, Serenella Servidei, Filippo Crea, Maurizio Genuardi
Source: BMC Cardiovascular Disorders, Vol 20, Iss 1, Pp 1-5 (2020)
Subject Terms: Danon disease, Genetic testing, Pathogenic variants, Hypertrophic cardiomyopathy, Phenocopy, Diseases of the circulatory (Cardiovascular) system, RC666-701
File Description: electronic resource
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6Academic Journal
Authors: Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers
Source: BMC Oral Health, Vol 19, Iss 1, Pp 1-6 (2019)
Subject Terms: Primary failure of eruption, Orthodontics, PTH1R gene, Nonsense variant, Incomplete penetrance, Case report, Dentistry, RK1-715
File Description: electronic resource
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7Academic Journal
Authors: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
Source: Frontiers in Genetics, Vol 11 (2020)
Subject Terms: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470
File Description: electronic resource
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8Academic Journal
Authors: Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello, on behalf of their respective Scientific Societies
Source: Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-8 (2017)
Subject Terms: Neonate, Genome, Whole-exome sequencing, WES, WGS, Genetic, Pediatrics, RJ1-570
File Description: electronic resource
Relation: http://link.springer.com/article/10.1186/s13052-017-0418-0; https://doaj.org/toc/1824-7288
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9Academic Journal
Authors: Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H. de Vos tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M. Frayling, John-Paul Plazzer, Julian R. Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller, in collaboration with The Mallorca Group
Source: Hereditary Cancer in Clinical Practice, Vol 15, Iss 1, Pp 1-10 (2017)
Subject Terms: Lynch syndrome, Hereditary non-polyposis colorectal cancer, Colorectal cancer, Microsatellite instability, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
File Description: electronic resource
Relation: http://link.springer.com/article/10.1186/s13053-017-0078-5; https://doaj.org/toc/1897-4287
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10Academic Journal
Authors: Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi, Emanuela Lucci-Cordisco, Tiziana Venesio, Aline Martayan, Maria Grazia Diodoro, Lupe Sanchez-Mete, Vittoria Stigliano, Filomena Mazzei, Francesca Grasso, Alessandro Giuliani, Marta Baiocchi, Roberta Maestro, Giuseppe Giannini, Marco Tartaglia, Ludmil B. Alexandrov, Margherita Bignami
Source: EBioMedicine, Vol 20, Iss C, Pp 39-49 (2017)
Subject Terms: MUTYH-associated polyposis, Colorectal cancer, 8-Oxoguanine, Base excision repair, Exome sequencing, Mutational signature, Medicine, Medicine (General), R5-920
File Description: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S2352396417301652; https://doaj.org/toc/2352-3964
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11Academic Journal
Authors: Giuseppe Marangi, Simone Garcovich, Gabriele Di Sante, Daniela Orteschi, Silvia Frangella, Franco Scaldaferri, Maurizio Genuardi, Ketty Peris, Fiorella Gurrieri, Marcella Zollino
Source: Acta Dermato-Venereologica, Vol 100, Iss 1, p adv00038 (2020)
Subject Terms: immunological deficiency syndromes, carmil2, rltpr, dermatitis, eosinophilic gastroenteritis, Dermatology, RL1-803
File Description: electronic resource
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12Academic Journal
Authors: Roberta Pastorino, Michele Basile, Alessia Tognetto, Marco Di Marco, Adriano Grossi, Emanuela Lucci-Cordisco, Franco Scaldaferri, Andrea De Censi, Antonio Federici, Paolo Villari, Maurizio Genuardi, Walter Ricciardi, Stefania Boccia
Source: PLoS ONE, Vol 15, Iss 7, p e0235038 (2020)
File Description: electronic resource
Relation: https://doaj.org/toc/1932-6203
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13Academic Journal
Authors: Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D'Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU
Source: PLoS ONE, Vol 13, Iss 11, p e0206855 (2018)
File Description: electronic resource
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14Academic Journal
Authors: Ettore Capoluongo, Nicla La Verde, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo, Stefania Gori
Source: Diagnostics, Vol 9, Iss 4, p 146 (2019)
Subject Terms: ngs, brca1/2 assays, somatic brca, parp-1i, Medicine (General), R5-920
File Description: electronic resource
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15Academic Journal
Authors: Silvia D'ippolito, Nicoletta Di Simone, Daniela Orteschi, Maria Grazia Pomponi, Maurizio Genuardi, Leuconoe Grazia Sisti, Roberta Castellani, Esther Diana Rossi, Giovanni Scambia, Marcella Zollino
Source: PLoS ONE, Vol 12, Iss 6, p e0178113 (2017)
File Description: electronic resource
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16Academic Journal
Source: Frontiers in Cardiovascular Medicine, Vol 3 (2016)
Subject Terms: Athletes, Genetics, Medical, Long QT Syndrome, Sudden cardiac death, hypertrophic cardiomyopathy (HCM), arrythmogenic right ventricular displasia, Diseases of the circulatory (Cardiovascular) system, RC666-701
File Description: electronic resource
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17Academic Journal
Authors: Mia M Gaudet, Karoline B Kuchenbaecker, Joseph Vijai, Robert J Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olga M Sinilnikova, Vernon S Pankratz, Xianshu Wang, Ronald C Eldridge, Daniel C Tessier, Daniel Vincent, Francois Bacot, Frans B L Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet, KConFab Investigators, Paolo Peterlongo, Rita K Schmutzler, Katherine L Nathanson, Marion Piedmonte, Christian F Singer, Mads Thomassen, Ontario Cancer Genetics Network, Thomas v O Hansen, Susan L Neuhausen, Ignacio Blanco, Mark H Greene, Judith Garber, Jeffrey N Weitzel, Irene L Andrulis, David E Goldgar, Emma D'Andrea, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, Elizabeth J van Rensburg, Adalgeir Arason, Gad Rennert, Ans M W van den Ouweland, Annemarie H van der Hout, Carolien M Kets, Cora M Aalfs, Juul T Wijnen, Margreet G E M Ausems, HEBON, EMBRACE, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte, D Gareth Evans, Chris Jacobs, Julian Adlard, Marc Tischkowitz, Mary E Porteous, Francesca Damiola, GEMO Study Collaborators, Lisa Golmard, Laure Barjhoux, Michel Longy, Muriel Belotti, Sandra Fert Ferrer, Sylvie Mazoyer, Amanda B Spurdle, Siranoush Manoukian, Monica Barile, Maurizio Genuardi, Norbert Arnold, Alfons Meindl, Christian Sutter, Barbara Wappenschmidt, Susan M Domchek, Georg Pfeiler, Eitan Friedman, Uffe Birk Jensen, Mark Robson, Sohela Shah, Conxi Lazaro, Phuong L Mai, Javier Benitez, Melissa C Southey, Marjanka K Schmidt, Peter A Fasching, Julian Peto, Manjeet K Humphreys, Qin Wang, Kyriaki Michailidou, Elinor J Sawyer, Barbara Burwinkel, Pascal Guénel, Stig E Bojesen, Roger L Milne, Hermann Brenner, Magdalena Lochmann, GENICA Network, Kristiina Aittomäki, Thilo Dörk, Sara Margolin, Arto Mannermaa, Diether Lambrechts, Jenny Chang-Claude, Paolo Radice, Graham G Giles, Christopher A Haiman, Robert Winqvist, Peter Devillee, Montserrat García-Closas, Nils Schoof, Maartje J Hooning, Angela Cox, Paul D P Pharoah, Anna Jakubowska, Nick Orr, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Per Hall, Fergus J Couch, Jacques Simard, David Altshuler, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Kenneth Offit
Source: PLoS Genetics, Vol 9, Iss 3, p e1003173 (2013)
File Description: electronic resource
Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23544012/pdf/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404
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18Academic Journal
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19Academic Journal
Authors: Siro Bagnoli, Anna L Putignano, German Melean, Silvana Baglioni, Roberta Sestini, Monica Milla, Giuseppe dAlbasio, Maurizio Genuardi, Franco Pacini, Giacomo Trallori, Laura Papi
Source: Inflammatory Bowel Diseases; Nov2004, Vol. 10 Issue 6, p705-708, 4p
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20Academic Journal
Source: American Journal of Medical Genetics; 2003, Vol. 122 Issue 4, p325, 10p
Subject Terms: COLON cancer, CANCER, GENETIC disorders, DISEASES, LEUKEMIA