Environmental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome.

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)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/3fe3e83dc7f44f449f56ae7701cce4a3

Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course

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

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1422163/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/860e32b968574643ad6eb1fc69c5b22d

3q29 microduplication syndrome: New evidence for the refinement of the critical region

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

Access URL: https://doaj.org/article/4ca09283599448118613ae8470d61672

Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases – Is It Time to Update the EU’s Orphan Regulation? And if so, What Should be Changed?

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

Relation: https://www.karger.com/Article/FullText/509272; https://doaj.org/toc/2296-6870

Access URL: https://doaj.org/article/80e8dc34f723470d86371be1108b424e

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

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

Relation: http://link.springer.com/article/10.1186/s12872-020-01421-4; https://doaj.org/toc/1471-2261

Access URL: https://doaj.org/article/f3092c8f9f6f4370872788774476f4f5

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

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

Relation: http://link.springer.com/article/10.1186/s12903-019-0944-9; https://doaj.org/toc/1472-6831

Access URL: https://doaj.org/article/177c46f837e141bcbffd99b422cdaec1

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

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

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00798/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/9cc3036b8517473a900b9588e8069c13

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

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

Access URL: https://doaj.org/article/69199d4ec3e74ca398c00ba4131c5b0d

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

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

Access URL: https://doaj.org/article/fa96c2aaea2f442f83f380ff0ada1046

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

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

Access URL: https://doaj.org/article/87411eb9092b40f79ab724c1640e5e09

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

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

Relation: https://www.medicaljournals.se/jadv/content/html/10.2340/00015555-3370; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

Access URL: https://doaj.org/article/f1935db429e74f6db14c297da5dd4a12

Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy.

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)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/0433154fb4d64cfd8f2de910406ed5de

Workload measurement for molecular genetics laboratory: A survey study.

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)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC6258511?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/e0be3ab1c9574e378228b83edd270268

BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories

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

Relation: https://www.mdpi.com/2075-4418/9/4/146; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/602ff62a14b84094a5b190129f3575ac

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

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)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5467807?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/4dff10a82de144a1bbc55c5416ba349d

The role of genetic testing in the identification of young athletes with inherited primitive cardiac disorders at risk of exercise sudden-death

Authors: Francesco Danilo Tiziano, Vincenzo Palmieri, Maurizio Genuardi, Paolo Zeppilli

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

Relation: http://journal.frontiersin.org/Journal/10.3389/fcvm.2016.00028/full; https://doaj.org/toc/2297-055X

Access URL: https://doaj.org/article/d3e74be78a844051b1ec62e046fbc1f8

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.

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)

Subject Terms: Genetics, QH426-470

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

Access URL: https://doaj.org/article/f45b7c806857476fa2644c704c807fc3

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Susceptibility to Refractory Ulcerative Colitis Is Associated with Polymorphism in the hMLH1 Mismatch Repair Gene.

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

Hereditary nonpolyposis colorectal cancer and related conditions.

Authors: Emanuela Lucci-Cordisco, Ilaria Zito, Francesca Gensini, Maurizio Genuardi

Source: American Journal of Medical Genetics; 2003, Vol. 122 Issue 4, p325, 10p

Subject Terms: COLON cancer, CANCER, GENETIC disorders, DISEASES, LEUKEMIA