11573/1678459 - 2023 -
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? Cava, Francesco; Micolonghi, Caterina; Musumeci, Maria Beatrice; Petrucci, Simona; Savio, Camilla; Fabiani, Marco; Tini, Giacomo; Germani, Aldo; Libi, Fabio; Rossi, Carla; Visco, Vincenzo; Pizzuti, Antonio; Volpe, Massimo; Autore, Camillo; Rubattu, Speranza; Piane, Maria - 01a Articolo in rivista
rivista: FRONTIERS IN CARDIOVASCULAR MEDICINE (Lausanne: Frontiers Media S.A., 2014-) pp. 1-4 - issn: 2297-055X - wos: WOS:000970020400001 (1) - scopus: 2-s2.0-85153526285 (1)
11573/1687956 - 2023 -
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio - 01i Case report
rivista: BIOMEDICINES (Basel : MDPI) pp. 1-6 - issn: 2227-9059 - wos: WOS:001038003500001 (0) - scopus: 2-s2.0-85175109427 (0)
11573/1675554 - 2023 -
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; Tini Melato, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria - 01i Case report
rivista: CURRENT ISSUES IN MOLECULAR BIOLOGY (-HORIZON SCIENTIFIC PRESS, PO BOX 1, NORFOLK, WYMONDHAM, ENGLAND, NR18 0JA
-Wymondham: Caister Academic.) pp. 2422-2430 - issn: 1467-3045 - wos: WOS:000955690300001 (0) - scopus: 2-s2.0-85151117528 (0)
11573/1686369 - 2023 -
The role of genetic testing in suspected fulminant myocarditis: a case report Mistrulli, Raffaella; Micolonghi, Caterina; Follesa, Federico; Fabiani, Marco; Pagannone, Erika; D'amati, Giulia; Giordano, Carla; Caroselli, Silvia; Savio, Camilla; Germani, Aldo; Pizzuti, Antonio; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria; Autore, Camillo - 01i Case report
rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. - - issn: 2214-4269 - wos: WOS:001065774500001 (0) - scopus: 2-s2.0-85168439248 (0)
11573/1649987 - 2022 -
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways Bianco, Lavinia; Raffa, Salvatore; Fornelli, Paolo; Mancini, Rita; Gabriele, Angela; Medici, Francesco; Battista, Claudia; Greco, Stefania; Croce, Giuseppe; Germani, Aldo; Petrucci, Simona; Anibaldi, Paolo; Bianco, Valerio; Ronchetti, Mario; Banchieri, Giorgio; Napoli, Christian; Piane, Maria - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (Basel: MDPI 2003-) pp. 7806- - issn: 1660-4601 - wos: WOS:000824308200001 (0) - scopus: 2-s2.0-85132756737 (0)
11573/1649089 - 2022 -
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria - 01i Case report
rivista: DIAGNOSTICS (Basel: MDPI) pp. 1-13 - issn: 2075-4418 - wos: WOS:000832165800001 (0) - scopus: 2-s2.0-85133166200 (0)
11573/1659060 - 2022 -
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona - 01i Case report
rivista: DIAGNOSTICS (Basel: MDPI) pp. 1-8 - issn: 2075-4418 - wos: WOS:000880902600001 (0) - scopus: 2-s2.0-85141701474 (0)
11573/1668684 - 2022 -
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy Montori, Andrea; Germani, Aldo; Ferri, Mario; Milano, Annalisa; Valentina Ranalli, Teresa; Piane, Maria; Pilozzi, Emanuela - 01a Articolo in rivista
rivista: BIOMEDICINES (Basel : MDPI) pp. 1-11 - issn: 2227-9059 - wos: WOS:000902351900001 (0) - scopus: 2-s2.0-85144892205 (0)
11573/1532463 - 2021 -
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report Cava, F.; Cristiano, E.; Musumeci, M. B.; Savio, C.; Germani, A.; Monaco, M. L.; Petrucci, S.; Torrisi, M. R.; Autore, C.; Rubattu, S.; Piane, M. - 01a Articolo in rivista
rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100743- - issn: 2214-4269 - wos: WOS:000656785700001 (1) - scopus: 2-s2.0-85102646298 (4)
11573/1621350 - 2021 -
Rna sequencing of primary cutaneous and breast-implant associated anaplastic large cell lymphomas reveals infrequent fusion transcripts and upregulation of PI3K/AKT signaling via neurotrophin pathway genes Di Napoli, A.; Vacca, D.; Bertolazzi, G.; Lopez, G.; Piane, M.; Germani, A.; Rogges, E.; Pepe, G.; Di Pompeo, F. S.; Salgarello, M.; Jobanputra, V.; Hsiao, S.; Wrzeszczynski, K. O.; Berti, E.; Bhagat, G. - 01a Articolo in rivista
rivista: CANCERS (Basel: MDPI) pp. 1-17 - issn: 2072-6694 - wos: WOS:000735985500001 (4) - scopus: 2-s2.0-85120540675 (5)
11573/1442555 - 2020 -
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers Germani, Aldo; Petrucci, Simona; De Marchis, Laura; Libi, Fabio; Savio, Camilla; Amanti, Claudio; Bonifacino, Adriana; Campanella, Barbara; Capalbo, Carlo; Lombardi, Augusto; Maggi, Stefano; Mattei, Mauro; Osti, Mattia Falchetto; Pellegrini, Patrizia; Speranza, Annarita; Stanzani, Gianluca; Vitale, Valeria; Pizzuti, Antonio; Torrisi, Maria Rosaria; Piane, Maria - 01a Articolo in rivista
rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. - - issn: 2077-0383 - wos: WOS:000581319600001 (6) - scopus: 2-s2.0-85114281545 (34)
11573/1403890 - 2020 -
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing Magri', Damiano; Mastromarino, Vittoria; Gallo, Giovanna; Zachara, Elisabetta; Re, Federica; Agostoni, Piergiuseppe; Giordano, Dario; Rubattu, Speranza Donatella; Forte, Maurizio; Cotugno, Enrico Maria; Torrisi, Maria Rosaria; Petrucci, Simona; Germani, Aldo; Savio, Camilla; Maruotti, Antonello; Volpe, Massimo; Autore, Camillo; Piane, Maria; Musumeci, Maria Beatrice - 01a Articolo in rivista
rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. - - issn: 2077-0383 - wos: WOS:000549211800001 (13) - scopus: 2-s2.0-85099244241 (13)
11573/1278668 - 2019 -
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants. An ENIGMA resource to support clinical variant classification Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso-Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; De La Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M; Dutrannoy, Véronique; Eccles, Diana M; Ehrencrona, Hans; Enders, Ute; Evans, D Gareth; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Galvao, Henrique C R; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gómez, Carolina; Gómez Garcia, Encarna B; González, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutiérrez-Enríquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V O; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Hübbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A; Janssen, Linda A M; Jeschke, Udo; Kaulfuß, Silke; Keupp, Katharina; Kiechle, Marion; Kölbl, Alexandra; Krieger, Sophie; Kruse, Torben A; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L; Lim, Joanna; Loeffler, Markus; López-Fernández, Adrià; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D; Moghadasi, Setareh; Moles-Fernández, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N; Montes, Eva; Mori, Luigi; Moserle, Lidia; Müller, Clemens R; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B; Niederacher, Dieter; Nielsen, Henriette R; Ong, Kai-Ren; Pachter, Nicholas; Palmero, Edenir I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Pérez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K; Porfirio, Berardino; Quante, Anne S; Ramser, Juliane; Reis, Rui M; Revillion, Françoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sánchez De Abajo, Ana María; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiß, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V; Teo, Soo H; Teulé, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tognazzo, Silvia; Toland, Amanda E; Tornero, Eva; Törngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H; Van Asperen, Christi J; Van Mackelenbergh, Marion T; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ángela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P G; Wagner, Sebastian A; Waha, Anke; Walker, Logan C; Walters, Rhiannon J; Wang-Gohrke, Shan; Weber, Bernhard H F; Weichert, Wilko; Wieland, Kerstin; Wiesmüller, Lisa; Witzel, Isabell; Wöckel, Achim; Woodward, Emma R; Zachariae, Silke; Zampiga, Valentina; Zeder-Göß, Christine; Lázaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K; Goldgar, David E; Spurdle, Amanda B - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1-64 - issn: 1059-7794 - wos: WOS:000485994200033 (80) - scopus: 2-s2.0-85072233740 (89)
11573/1178195 - 2018 -
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline Germani, A; Libi, F; Maggi, S; Stanzani., G; Lombardi, A; Pellegrini, P; Mattei, M; De Marchis, L; Amanti, C; Pizzuti, A; Torrisi, Mr; Piane, M - 01a Articolo in rivista
rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 33648-33655 - issn: 1949-2553 - wos: (0) - scopus: 2-s2.0-85053328134 (11)
11573/1112491 - 2017 -
Nano-mechanical characterization of ataxia telangiectasia cells treated with dexamethasone Menotta, Michele; Biagiotti, Sara; Bartolini, Giulia; Bianchi, Marzia; Orazi, Sara; Germani, Aldo; Chessa, Luciana; Magnani, Mauro - 01a Articolo in rivista
rivista: CELL BIOCHEMISTRY AND BIOPHYSICS (Humana Press Incorporated:999 Riverview Drive, Suite 208:Totowa, NJ 07512:(973)256-1699, EMAIL: lglasner@humanapr.com, INTERNET: http://www.humanapress.com, Fax: (973)256-8341) pp. 95-102 - issn: 1085-9195 - wos: WOS:000396941700010 (10) - scopus: 2-s2.0-85001781147 (9)
11573/954156 - 2016 -
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders Piane, Maria; Molinaro, Anna; Soresina, Annarosa; Costa, Silvia; Maffeis, Marianna; Germani, Aldo; Pinelli, Lorenzo; Meschini, Roberta; Plebani, Alessandro; Chessa, Luciana; Micheli, Roberto - 01a Articolo in rivista
rivista: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 48-53 - issn: 0022-510X - wos: WOS:000389399300012 (4) - scopus: 2-s2.0-84991594094 (6)
11573/893593 - 2016 -
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Maria Beatrice; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:000382337900052 (20) - scopus: 2-s2.0-84980378444 (20)
11573/1112494 - 2015 -
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38 Grossi, Valentina; Lucarelli, Giuseppe; Forte, Giovanna; Peserico, Alessia; Matrone, Antonio; Germani, Aldo; Rutigliano, Monica; Stella, Alessandro; Bagnulo, Rosanna; Loconte, Daria; Galleggiante, Vanessa; Sanguedolce, Francesca; Cagiano, Simona; Bufo, Pantaleo; Trabucco, Senia; Maiorano, Eugenio; Ditonno, Pasquale; Battaglia, Michele; Resta, Nicoletta; Simone, Cristiano - 01a Articolo in rivista
rivista: AUTOPHAGY (Landes Bioscience Georgetown TX 78628) pp. 2102-2113 - issn: 1554-8627 - wos: WOS:000366506200012 (28) - scopus: 2-s2.0-84964247541 (30)
11573/1112497 - 2015 -
Molecular and functional characterization of three different postzygotic mutations in PIK3CA-related overgrowth spectrum (PROS) patients: effects on PI3K/AKT/mTOR signaling and sensitivity to PIK3 inhibitors Loconte, Daria C.; Grossi, Valentina; Bozzao, Cristina; Forte, Giovanna; Bagnulo, Rosanna; Stella, Alessandro; Lastella, Patrizia; Cutrone, Mario; Benedicenti, Francesco; Susca, Francesco C.; Patruno, Margherita; Varvara, Dora; Germani, Aldo; Chessa, Luciana; Laforgia, Nicola; Tenconi, Romano; Simone, Cristiano; Resta, Nicoletta - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. 1-12 - issn: 1932-6203 - wos: WOS:000353659100013 (62) - scopus: 2-s2.0-84928538996 (63)
11573/1112499 - 2015 -
A SMYD3 small-molecule Inhibitor impairing cancer cell growth Peserico, Alessia; Germani, Aldo; Sanese, Paola; Barbosa, Armenio Jorge; Di Virgilio, Valeria; Fittipaldi, Raffaella; Fabini, Edoardo; Bertucci, Carlo; Varchi, Greta; Moyer, Mary Pat; Caretti, Giuseppina; Del Rio, Alberto; Simone, Cristiano - 01a Articolo in rivista
rivista: JOURNAL OF CELLULAR PHYSIOLOGY (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 2447-2460 - issn: 0021-9541 - wos: WOS:000357815600018 (83) - scopus: 2-s2.0-84932620730 (85)
11573/557496 - 2014 -
Targeted therapy against chemoresistant colorectal cancers: Inhibition of p38α modulates the effect of cisplatin in vitro and in vivo through the tumor suppressor FoxO3A Germani, Aldo; Antonio, Matrone; Grossi, Valentina; Alessia, Peserico; Paola, Sanese; Micaela, Liuzzi; Palermo, Rocco; Stefania, Murzilli; Campese, Antonio Francesco; Giuseppe, Ingravallo; Canettieri, Gianluca; Tugsan, Tezil; Cristiano, Simone - 01a Articolo in rivista
rivista: CANCER LETTERS (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 110-118 - issn: 0304-3835 - wos: WOS:000331688700013 (43) - scopus: 2-s2.0-84893131728 (43)
11573/1112502 - 2012 -
Blocking p38/ERK crosstalk affects colorectal cancer growth by inducing apoptosis in vitro and in preclinical mouse models Chiacchiera, Fulvio; Grossi, Valentina; Cappellari, Marianna; Peserico, Alessia; Simonatto, Marta; Germani, Aldo; Russo, Silvana; Moyer, Mary P.; Resta, Nicoletta; Murzilli, Stefania; Simone, Cristiano - 01a Articolo in rivista
rivista: CANCER LETTERS (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 98-108 - issn: 0304-3835 - wos: WOS:000307420200011 (40) - scopus: 2-s2.0-84864071314 (37)