Pubblicazioni

The rationale for liquid biopsy in colorectal cancer: a focus on circulating tumor cells

2015 - EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Gazzaniga, Paola; Raimondi, Cristina; Nicolazzo, Chiara; Di Gioia, Cira Rosaria Tiziana; Gradilone, Angela; Cortesi, Enrico; Carletti, Raffaella

Engineering a nickase on the homing endonuclease I-DmoI scaffold

2015 - THE JOURNAL OF BIOLOGICAL CHEMISTRY

Molina, Rafael; Marcaida, MarÃa JosÃ©; Redondo, Pilar; Marenchino, Marco; Duchateau, Phillippe; D'Abramo, Marco; Montoya, Guillermo; Prieto, JesÃºs

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions

2015 - HUMAN REPRODUCTION

Barthold, Julia Spencer; Wang, Yanping; Kolon, Thomas F; Kollin, Claude; NordenskjÃ¶ld, Agneta; Olivant Fisher, Alicia; Figueroa, T. Ernesto; Banihani, Ahmad H; Hagerty, Jennifer A; GonzalÃ©z, Ricardo; Noh, Paul H; Chiavacci, Rosetta M; Harden, Kisha R; Abrams, Debra J; Kim, Cecilia E; Li, Jin; Hakonarson, Hakon; Devoto, Marcella

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice

2015 - HUMAN MOLECULAR GENETICS

Pelosi, Laura; Berardinelli, Maria Grazia; Forcina, Laura; Spelta, Elisa; Rizzuto, Emanuele; Nicoletti, Carmine; Camilli, Carlotta; Testa, Erika; Catizone, Angela; De Benedetti, Fabrizio; MusarÃ², Antonio

Genotypeâphenotype correlations in 5-fluorouracil metabolism. a candidate DPYD haplotype to improve toxicity prediction

2015 - PHARMACOGENOMICS JOURNAL

Gentile, Giovanna; Botticelli, Andrea; Lionetto, L.; Mazzuca, Federica; Simmaco, Maurizio; Marchetti, Paolo; Borro, Marina

Neurobehavioral alterations in a genetic murine model of Feingold syndrome 2

2015 - BEHAVIOR GENETICS

Fiori, Elena; BABICOLA, LUCY; ANDOLINA, DIEGO; Coassin, A.; PASCUCCI, Tiziana; Patella, Loris; Han, Y. C.; Ventura, A.; VENTURA, Rossella

Ultrastructural markers of quality are impaired in human metaphase II aged oocytes: a comparison between reproductive and in vitro aging

2015 - JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Bianchi, S; Macchiarelli, G.; Micara, Giulietta; Linari, Antonella; Boninsegna, Claudia; Aragona, Cesare; Rossi, G.; Cecconi, S.; Nottola, Stefania Annarita

Determined to die! Ability to act following multiple self-inflicted gunshot wounds to the head. The cook county office of medical examiner experience (2005-2012) and review of literature

2015 - JOURNAL OF FORENSIC SCIENCES

Arunkumar, Ponni; Maiese, Aniello; Bolino, Giorgio; Gitto, Lorenzo

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella

Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors

2015 - INTERNATIONAL JOURNAL OF HEPATOBILIARY AND PANCREATIC DISEASES

Capurso, G; Archibugi, L; DELLE FAVE, Gianfranco

An asbestos-exposed family with multiple cases of pleural malignant mesothelioma without inheritance of a predisposing BAP1 mutation

2015 - CANCER GENETICS

Cheung, Mitchell; Kadariya, Yuwaraj; Pei, Jianming; Talarchek, Jacqueline; Facciolo, Francesco; Visca, Paolo; Righi, Luisella; Cozzi, Ilaria; Testa, Joseph R.; Ascoli, Valeria

Activin/nodal signaling supports retinal progenitor specification in a narrow time window during pluripotent stem cell neuralization

2015 - STEM CELL REPORTS

Bertacchi, Michele; Lupo, Giuseppe; Pandolfini, Luca; Casarosa, Simona; D'Onofrio, Mara; Pedersen, Roger A.; Harris, William A.; Cremisi, Federico

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Capalbo, Antonio; Treff, Nathan R; Cimadomo, Danilo; Tao, Xin; Upham, Kathleen; Ubaldi, Filippo Maria; Rienzi, Laura; Scott, Richard T.

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

2015 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Digilio, M. Cristina; Versacci, Paolo; Bernardini, Laura; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

Autism genetics: methodological issues and experimental design

2015 - SCIENCE CHINA. LIFE SCIENCES

Sacco, Roberto; Lintas, Carla; Persico, Antonio M.

A bacterial homologue of the human iron exporter ferroportin

2015 - FEBS LETTERS

BONACCORSI DI PATTI, Maria Carmela; Polticelli, Fabio; Tortosa, Valentina; Furbetta, PIER ANTONIO; Musci, Giovanni

Dropped-head in recessive oculopharyngeal muscular dystrophy

2015 - NEUROMUSCULAR DISORDERS

Garibaldi, Matteo; Pennisi, Elena Maria; Bruttini, Mirella; Bizzarri, Veronica; Bucci, Elisabetta; Morino, Stefania; Talerico, Caterina; Stoppacciaro, Antonella; Renieri, Alessandra; Antonini, Giovanni

Epigenetic treatment of solid tumours. A review of clinical trials

2015 - CLINICAL EPIGENETICS

Nervi, Clara; DE MARINIS, Elisabetta; CODACCI PISANELLI, Giovanni

Comparison of therapy with ticagrelor, prasugrel or high clopidogrel dose in pci patients with high on treatment platelet reactivity and genotype variation. triplete reset trial

2015 - INTERNATIONAL JOURNAL OF CARDIOLOGY

Sardella, Gennaro; Calcagno, Simone; Mancone, Massimo; Lucisano, Luigi; Pennacchi, Mauro; Stio, Rocco Edoardo; Placentino, Filippo; Di Roma, Angelo; Cavallo, Erika; Palmirotta, Raffaele; Guadagni, Fiorella; Fedele, Francesco

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

2015 - NATURE GENETICS

Kuchenbaecker, Karoline B; Ramus, Susan J.; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C.; Beesley, Jonathan; Lawrenson, Kate; Mcguffog, Lesley; Healey, Sue; Lee, Janet M.; Spindler, Tassja J.; Lin, Yvonne G.; Pejovic, Tanja; Bean, Yukie; Li, Qiyuan; Coetzee, Simon; Hazelett, Dennis; Miron, Alexander; Southey, Melissa; Terry, Mary Beth; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Dorfling, Cecilia M.; Van Rensburg, Elizabeth J.; Neuhausen, Susan L.; Ding, Yuan Chun; Hansen, Thomas V. O.; JÃ¸nson, Lars; Gerdes, Anne Marie; Ejlertsen, Bent; Barrowdale, Daniel; Dennis, Joe; Benitez, Javier; Osorio, Ana; Garcia, Maria Jose; Komenaka, Ian; Weitzel, Jeffrey N.; Ganschow, Pamela; Peterlongo, Paolo; Bernard, Loris; Viel, Alessandra; Bonanni, Bernardo; Peissel, Bernard; Manoukian, Siranoush; Radice, Paolo; Papi, Laura; Ottini, Laura; Fostira, Florentia; Konstantopoulou, Irene; Garber, Judy; Frost, Debra; Perkins, Jo; Platte, Radka; Ellis, Steve; Godwin, Andrew K.; Schmutzler, Rita Katharina; Meindl, Alfons; Engel, Christoph; Sutter, Christian; Sinilnikova, Olga M.; Damiola, Francesca; Mazoyer, Sylvie; Stoppa Lyonnet, Dominique; Claes, Kathleen; De Leeneer, Kim; Kirk, Judy; Rodriguez, Gustavo C.; Piedmonte, Marion; O'Malley, David M.; De La Hoya, Miguel; Caldes, Trinidad; AittomÃ¤ki, Kristiina; Nevanlinna, Heli; Margriet, J. CollÃ©e; Rookus, Matti A.; Oosterwijk, Jan C.; Tihomirova, Laima; Tung, Nadine; Hamann, Ute; Isaccs, Claudine; Tischkowitz, Marc; Imyanitov, Evgeny N.; Caligo, Maria A.; Campbell, Ian G.; Hogervorst, Frans B. L.; Olah, Edith; Diez, Orland; Blanco, Ignacio; Brunet, Joan; Lazaro, Conxi; Pujana, Miquel Angel; Jakubowska, Anna; Gronwald, Jacek; Lubinski, Jan; Sukiennicki, Grzegorz; Barkardottir, Rosa B.; Plante, Marie; Simard, Jacques; Soucy, Penny; Montagna, Marco; Tognazzo, Silvia; Teixeira, Manuel R.; Pankratz, Vernon S.; Wang, Xianshu; Lindor, Noralane; Szabo, Csilla I.; Kauff, Noah; Vijai, Joseph; Aghajanian, Carol A.; Pfeiler, Georg; Berger, Andreas; Singer, Christian F.; Tea, Muy Kheng; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Mulligan, Anna Marie; Tchatchou, Sandrine; Andrulis, Irene L.; Glendon, Gord; Toland, Amanda Ewart; Jensen, Uffe Birk; Kruse, Torben A.; Thomassen, Mads; Bojesen, Anders; Zidan, Jamal; Friedman, Eitan; Laitman, Yael; Soller, Maria; Liljegren, Annelie; Arver, Brita; Einbeigi, Zakaria; Stenmark Askmalm, Marie; Olopade, Olufunmilayo I.; Nussbaum, Robert L.; Rebbeck, Timothy R.; Nathanson, Katherine L.; Domchek, Susan M.; Lu, Karen H.; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Hein, Alexander; Ekici, Arif B.; Beckmann, Matthias W.; Fasching, Peter A.; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambrechts, Sandrina; Dicks, Ed; Doherty, Jennifer A.; Wicklund, Kristine G.; Rossing, Mary Anne; Rudolph, Anja; Chang Claude, Jenny; Wang Gohrke, Shan; Eilber, Ursula; Moysich, Kirsten B.; Odunsi, Kunle; Sucheston, Lara; Lele, Shashi; Wilkens, Lynne R.; Goodman, Marc T.; Thompson, Pamela J.; Shvetsov, Yurii B.; Runnebaum, Ingo B.; DÃ¼rst, Matthias; Hillemanns, Peter; DÃ¶rk, Thilo; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Pelttari, Liisa M.; Butzow, Ralf; Modugno, Francesmary; Kelley, Joseph L.; Edwards, Robert P.; Ness, Roberta B.; Du Bois, Andreas; Heitz, Florian; Schwaab, Ira; Harter, Philipp; Matsuo, Keitaro; Hosono, Satoyo; Orsulic, Sandra; Jensen, Allan; Kjaer, Susanne Kruger; Hogdall, Estrid; Hasmad, Hanis Nazihah; Noor Azmi, Mat Adenan; Teo, Soo Hwang; Woo, Yin Ling; Fridley, Brooke L.; Goode, Ellen L.; Cunningham, Julie M.; Vierkant, Robert A.; Bruinsma, Fiona; Giles, Graham G.; Liang, Dong; Hildebrandt, Michelle A. T.; Wu, Xifeng; Levine, Douglas A.; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S.; Schildkraut, Joellen M.; Concannon, Patrick; Weber, Rachel Palmieri; Cramer, Daniel W.; Terry, Kathryn L.; Poole, Elizabeth M.; Tworoger, Shelley S.; Bandera, Elisa V.;

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Carvill, Gemma L; Mcmahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; MÃ¸ller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy

2015 - JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE

Reant, Patricia; Captur, Gabriella; Mirabel, Mariana; Nasis, Arthur; Sado, Daniel M.; Maestrini, Viviana; Castelletti, Silvia; Manisty, Charlotte; Herrey, Anna S.; Syrris, Petros; Tome Esteban, Maite; Jenkins, Sharon; Elliott, Perry M.; Mckenna, William J.; Moon, James C.

Draft genome sequence of a strain of cosmopolitan fungus Trichoderma atroviride

2015 - GENOME ANNOUNCEMENTS

Shi-Kunne, Xiaoqian; Seidl, Michael F.; Faino, Luigi; Thomma, Bart P. H. J.

The burden of multiple sclerosis variants in continental Italians and Sardinians

2015 - MULTIPLE SCLEROSIS

Sanna, Serena; Barizzone, Nadia; Zara, Ilenia; Sorosina, Melissa; Lupoli, Sara; Porcu, Eleonora; Pitzalis, Maristella; Zoledziewska, Magdalena; Esposito, Federica; Leone, Maurizio; Mulas, Antonella; Cocco, Eleonora; Ferrigno, Paola; Guerini, Franca R.; Brambilla, Paola; Farina, Gabriele; Murru, Raffaele; Deidda, Francesca; Sanna, Sonia; Loi, Alessia; Barlassina, Cristina; Vecchio, Domizia; Zauli, Andrea; Clarelli, Ferdinando; Braga, Daniele; Poddie, Fausto; Cantello, Roberto; Martinelli, Vittorio; Comi, Giancarlo; Frau, Jessica; Lorefice, Lorena; Pugliatti, Maura; Rosati, Giulio; Progemus, ; Salvetti, Marco; Melis, Maurizio; Marrosu, Maria G.; Cusi, Daniele; Cucca, Francesco; Martinelli Boneschi, Filippo; D'Alfonso, Sandra

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno