Sfoglia per Autore
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome
2017-01-01 Allasia, Marco; Battaglia, Antonino; Pasini, Barbara; Gazzera, Carlo; Calandri, Marco; Bosio, Andrea; Gontero, Paolo; Destefanis, Paolo
Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.
2017-01-01 Betti, Marta; Casalone, Elisabetta; Ferrante, Daniela; Aspesi, Anna; Morleo, Giulia; Biasi, Alessandra; Sculco, Marika; Mancuso, Giuseppe; Guarrera, Simonetta; Righi, Luisella; Grosso, Federica; Libener, Roberta; Pavesi, Mansueto; Mariani, Narciso; Casadio, Caterina; Boldorini, Renzo; Mirabelli, Dario; Pasini, Barbara; Magnani, Corrado; Matullo, Giuseppe; Dianzani, Irma
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.
2016-01-01 Pinto, Carmine; Bell, Maria Angela; Capoluongo, Ettore; Carrera, Paola; Clemente, Claudio; Colombo, Nicoletta; Cortesi, Laura; Rosa, Gaetano De; Fenizia, Francesca; Genuardi, Maurizio; Gori, Stefania; Guarneri, Valentina; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Russo, Antonio; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Truini, Mauro; Varesco, Liliana .
Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: Analysis of prognostic factors and survival
2016-01-01 Biglia, Nicoletta; Sgandurra, Paola; Bounous, Valentina Elisabetta; Maggiorotto, Furio; Piva, Eleonora; Pivetta, Emanuele; Ponzone, Riccardo; Pasini, Barbara
Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
2016-01-01 Silvestri, Valentina; Barrowdale, Daniel; Mulligan, Anna Marie; Neuhausen, Susan L.; Fox, Stephen; Karlan, Beth Y.; Mitchell, Gillian; James, Paul; Thull, Darcy L.; Zorn, Kristin K.; Carter, Natalie J.; Nathanson, Katherine L.; Domchek, Susan M.; Rebbeck, Timothy R.; Ramus, Susan J.; Nussbaum, Robert L.; Olopade, Olufunmilayo I.; Rantala, Johanna; Yoon, Sook-Yee; Caligo, Maria A.; Spugnesi, Laura; Bojesen, Anders; Pedersen, Inge Sokilde; Thomassen, Mads; Jensen, Uffe Birk; Toland, Amanda Ewart; Senter, Leigha; Andrulis, Irene L.; Glendon, Gord; Hulick, Peter J.; Imyanitov, Evgeny N.; Greene, Mark H.; Mai, Phuong L.; Singer, Christian F.; Rappaport-Fuerhauser, Christine; Kramer, Gero; Vijai, Joseph; Offit, Kenneth; Robson, Mark; Lincoln, Anne; Jacobs, Lauren; Machackova, Eva; Foretova, Lenka; Navratilova, Marie; Vasickova, Petra; Couch, Fergus J.; Hallberg, Emily; Ruddy, Kathryn J.; Sharma, Priyanka; Kim, Sung-Won; Teixeira, Manuel R.; Pinto, Pedro; Montagna, Marco; Matricardi, Laura; Arason, Adalgeir; Johannsson, Oskar Th; Barkardottir, Rosa B.; Jakubowska, Anna; Lubinski, Jan; Izquierdo, Angel; Pujana, Miguel Angel; Balmaã±a, Judith; Diez, Orland; Ivady, Gabriella; Papp, Janos; Olah, Edith; Kwong, Ava; Nevanlinna, Heli; Aittomã¤ki, Kristiina; Perez Segura, Pedro; Caldes, Trinidad; Van Maerken, Tom; Poppe, Bruce; Claes, Kathleen B.M.; Isaacs, Claudine; Elan, Camille; Lasset, Christine; Stoppa-Lyonnet, Dominique; Barjhoux, Laure; Belotti, Muriel; Meindl, Alfons; Gehrig, Andrea; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Hahnen, Eric; Kast, Karin; Arnold, Norbert; Varon-Mateeva, Raymonda; Wand, Dorothea; Godwin, Andrew K.; Evans, D.Gareth; Frost, Debra; Perkins, Jo; Adlard, Julian; Izatt, Louise; Platte, Radka; Eeles, Ros; Ellis, Steve; Hamann, Ute; Garber, Judy; Fostira, Florentia; Fountzilas, George; Pasini, Barbara; Giannini, Giuseppe; Rizzolo, Piera; Russo, Antonio; Cortesi, Laura; Papi, Laura; Varesco, Liliana; Palli, Domenico; Zanna, Ines; Savarese, Antonella; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Barile, Monica; Bonanni, Bernardo; Viel, Alessandra; Pensotti, Valeria; Tommasi, Stefania; Peterlongo, Paolo; Weitzel, Jeffrey N.; Osorio, Ana; Benitez, Javier; Mcguffog, Lesley; Healey, Sue; Gerdes, Anne-Marie; Ejlertsen, Bent; Hansen, Thomas V.O.; Steele, Linda; Ding, Yuan Chun; Tung, Nadine; Janavicius, Ramunas; Goldgar, David E.; Buys, Saundra S.; Daly, Mary B.; Bane, Anita; Terry, Mary Beth; John, Esther M.; Southey, Melissa; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Ottini, Laura
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study
2016-01-01 Azzollini, Jacopo; Scuvera, Giulietta; Bruno, Eleonora; Pasanisi, Patrizia; Zaffaroni, Daniela; Calvello, Mariarosaria; Pasini, Barbara; Ripamonti, Carla B.; Colombo, Mara; Pensotti, Valeria; Radice, Paolo; Peissel, Bernard; Manoukian, Siranoush
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma
2016-01-01 Betti, M; Aspesi, A; Biasi, A; Casalone, E; Ferrante, D; Ogliara, P; Gironi, Lc; Giorgione, R; Farinelli, P; Grosso, F; Libener, R; Rosato, S; Turchetti, D; Maffè, A; Casadio, C; Ascoli, V; Dianzani, C; Colombo, E; Piccolini, E; Pavesi, M; Miccoli, S; Mirabelli, D; Bracco, C; Righi, L; Boldorini, R; Papotti, M; Matullo, G; Magnani, C; Pasini, B; Dianzani, I
High frequency of genetic variants in DNA repair genes in patients with multiple primary tumors and/or belonging to families with cluster of infrequent cancers
2015-01-01 Casalone Elisabetta, Vignolo Lutati Francesca, Bracco Cecilia, Casalis Cavalchini Guido Claudio, Ogliara Paola, Ferrando Barbara, Russo Alessia, Mandrile Giorgia, Candita Luisa, Majore Silvia, Grammatico Paola, Genuardi Maurizio, Matullo Giuseppe, Pasini Barbara
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
2015-01-01 Rebbeck TR; Mitra N; Wan F; Sinilnikova OM; Healey S; McGuffog L; Mazoyer S; Chenevix-Trench G; Easton DF; Antoniou AC; Nathanson KL; CIMBA Consortium; Laitman Y; Kushnir A; Paluch-Shimon S; Berger R; Zidan J; Friedman E; Ehrencrona H; Stenmark-Askmalm M; Einbeigi Z; Loman N; Harbst K; Rantala J; Melin B; Huo D; Olopade OI; Seldon J; Ganz PA; Nussbaum RL; Chan SB; Odunsi K; Gayther SA; Domchek SM; Arun BK; Lu KH; Mitchell G; Karlan BY; Walsh C; Lester J; Godwin AK; Pathak H; Ross E; Daly MB; Whittemore AS; John EM; Miron A; Terry MB; Chung WK; Goldgar DE; Buys SS; Janavicius R; Tihomirova L; Tung N; Dorfling CM; van Rensburg EJ; Steele L; Neuhausen SL; Ding YC; Ejlertsen B; Gerdes AM; Hansen Tv; Ramón y Cajal T; Osorio A; Benitez J; Godino J; Tejada MI; Duran M; Weitzel JN; Bobolis KA; Sand SR; Fontaine A; Savarese A; Pasini B; Peissel B; Bonanni B; Zaffaroni D; Vignolo-Lutati F; Scuvera G; Giannini G; Bernard L; Genuardi M; Radice P; Dolcetti R; Manoukian S; Pensotti V; Gismondi V; Yannoukakos D; Fostira F; Garber J; Torres D; Rashid MU; Hamann U; Peock S; Frost D; Platte R; Evans DG; Eeles R; Davidson R; Eccles D; Cole T; Cook J; Brewer C; Hodgson S; Morrison PJ; Walker L; Porteous ME; Kennedy MJ; Izatt L; Adlard J; Donaldson A; Ellis S; Sharma P; Schmutzler RK; Wappenschmidt B; Becker A; Rhiem K; Hahnen E; Engel C; Meindl A; Engert S; Ditsch N; Arnold N; Plendl HJ; Mundhenke C; Niederacher D; Fleisch M; Sutter C; Bartram CR; Dikow N; Wang-Gohrke S; Gadzicki D; Steinemann D; Kast K; Beer M; Varon-Mateeva R; Gehrig A; Weber BH; Stoppa-Lyonnet D; Sinilnikova OM; Mazoyer S; Houdayer C; Belotti M; Gauthier-Villars M; Damiola F; Boutry-Kryza N; Lasset C; Sobol H; Peyrat JP; Muller D; Fricker JP; Collonge-Rame MA; Mortemousque I; Nogues C; Rouleau E; Isaacs C; De Paepe A; Poppe B; Claes K; De Leeneer K; Piedmonte M; Rodriguez G; Wakely K; Boggess J; Blank SV; Basil J; Azodi M; Phillips KA; Caldes T; de la Hoya M; Romero A; Nevanlinna H; Aittomäki K; van der Hout AH; Hogervorst FB; Verhoef S; Collée JM; Seynaeve C; Oosterwijk JC; Gille JJ; Wijnen JT; Gómez Garcia EB; Kets CM; Ausems MG; Aalfs CM; Devilee P; Mensenkamp AR; Kwong A; Olah E; Papp J; Diez O; Lazaro C; Darder E; Blanco I; Salinas M; Jakubowska A; Lubinski J; Gronwald J; Jaworska-Bieniek K; Durda K; Sukiennicki G; Huzarski T; Byrski T; Cybulski C; Toloczko-Grabarek A; Złowocka-Perłowska E; Menkiszak J; Arason A; Barkardottir RB; Simard J; Laframboise R; Montagna M; Agata S; Alducci E; Peixoto A; Teixeira MR; Spurdle AB; Lee MH; Park SK; Kim SW; Friebel TM; Couch FJ; Lindor NM; Pankratz VS; Guidugli L; Wang X; Tischkowitz M; Foretova L; Vijai J; Offit K; Robson M; Rau-Murthy R; Kauff N; Fink-Retter A; Singer CF; Rappaport C; Gschwantler-Kaulich D; Pfeiler G; Tea MK; Berger A; Greene MH; Mai PL; Imyanitov EN; Toland AE; Senter L; Bojesen A; Pedersen IS; Skytte AB; Sunde L; Thomassen M; Moeller ST; Kruse TA; Jensen UB; Caligo MA; Aretini P; Teo SH; Selkirk CG; Hulick PJ; Andrulis I
Germline CDKN2A mutations in childhood melanoma: A case of melanoma-pancreatic cancer syndrome
2015-01-01 Gironi, Laura Cristina; Colombo, Enrico; Farinelli, Pamela; Giorgione, Roberto; Bozzola, Cristina; Ogliara, Paola; Pasini, Barbara
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
2015-01-01 Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro
Two new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations identified in a cohort of Italian breast and ovarian cancer families.
2014-01-01 Vignolo Lutati F; Casalis Cavalchini G; Sapino A; Pasini B
Tumours of the ovary. Serous Tumors
2014-01-01 Seidman JD; Bell DA; Crum CP; Gilks CB; Kurman RJ; Levine DA; Longacre TA; Pasini B; Riva C; Sherman ME; Shih IM; Singer G; Soslow R; Vang R.
Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers.
2014-01-01 Kotsopoulos J, Lubinski J, Gronwald J, Cybulski C, Demsky R, Neuhausen SL, Kim-Sing C, Tung N, Friedman S, Senter L, Weitzel J, Karlan B, Moller P, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group: Lynch HT, Singer C, Eng C, Mitchell G, Huzarski T, McCuaig J, Hughes K, Mills G, Ghadirian P, Eisen A, Gilchrist D, Blum JL, Zakalik D, Pal T, Daly M, Weber B, Snyder C, Fallen T, Chudley A, Lunn J, Donenberg T, Kurz RN, Saal H, Garber J, Rennert G, Sweet K, Gershoni-Baruch R, Rappaport C, Lemire E, Stoppa-Lyonnet D, Olopade OI, Merajver S, Bordeleau L, Cullinane CA, Friedman E, McKinnon W, Wood M, Rayson D, Meschino W, McLennan J, Costalas JW, Reilly RE, Vadaparampil S, Offit K, Kauff N, Klijn J, Euhus D, Kwong A, Isaacs C, Couch F, Manoukian S, Byrski T, Elser C, Panchal S, Armel S, Nanda S, Metcalfe K, Poll A, Rosen B, Foulkes WD, Rebbeck T, Ainsworth P, Robidoux A, Warner E, Maehle L, Osborne M, Evans G, Pasini B, Ginsburg O, Cohen S, Bohdan G, Jakubowska A, Little J
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome
2014-01-01 G. C. Casalis Cavalchini; D. Giachino; G. Mandrile; I. Borelli; M. Micheletti; T. Venesio; M. De Marchi; B. Pasini
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
2014-01-01 Frigerio S; Disciglio V; Manoukian S; Peissel B; Della Torre G; Maurichi A; Collini P; Pasini B; Gotti G; Ferrari A; Rivoltini L; Massimino M; Rodolfo M.
A germline mismatch repair mutation possibly leading to a de novo NF1 germline mutation.
2014-01-01 Bracco C; Borelli I; Micheletti M; Martorana D;Grosso E; Pasini B
Differences and homologies of chromosomal alterations within and between breast cancer cell lines: a clustering analysis
2014-01-01 Milena Rondón-Lagos; Ludovica Verdun Di Cantogno; Caterina Marchiò; Nelson Rangel; Cesar Payan-Gomez; Patrizia Gugliotta; Cristina Botta; Gianni Bussolati; Sandra R Ramírez-Clavijo; Barbara Pasini;Anna Sapino
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns
2014-01-01 Iolanda Borelli;Guido C. Casalis Cavalchini;Serena Del Peschio;Monica Micheletti;Tiziana Venesio;Ivana Sarotto;Anna Allavena;Luisa Delsedime;Marco A. Barberis;Giorgia Mandrile;Paola Berchialla;Paola Ogliara;Cecilia Bracco;Barbara Pasini
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Treatment of multiple synchronous misdiagnosed renal cell cancers in a young patient affected by a "de novo" Von Hippel-Lindau syndrome | 2017 | Allasia, Marco; Battaglia, Antonino; Pasini, Barbara; Gazzera, Carlo; Calandri, Marco; Bosio, Andrea; Gontero, Paolo; Destefanis, Paolo | |
| Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma. | 2017 | Betti, Marta; Casalone, Elisabetta; Ferrante, Daniela; Aspesi, Anna; Morleo, Giulia; Biasi, Alessandra; Sculco, Marika; Mancuso, Giuseppe; Guarrera, Simonetta; Righi, Luisella; Grosso, Federica; Libener, Roberta; Pavesi, Mansueto; Mariani, Narciso; Casadio, Caterina; Boldorini, Renzo; Mirabelli, Dario; Pasini, Barbara; Magnani, Corrado; Matullo, Giuseppe; Dianzani, Irma | |
| Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients. | 2016 | Pinto, Carmine; Bell, Maria Angela; Capoluongo, Ettore; Carrera, Paola; Clemente, Claudio; Colombo, Nicoletta; Cortesi, Laura; Rosa, Gaetano De; Fenizia, Francesca; Genuardi, Maurizio; Gori, Stefania; Guarneri, Valentina; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Russo, Antonio; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Truini, Mauro; Varesco, Liliana . | |
| Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: Analysis of prognostic factors and survival | 2016 | Biglia, Nicoletta; Sgandurra, Paola; Bounous, Valentina Elisabetta; Maggiorotto, Furio; Piva, Eleonora; Pivetta, Emanuele; Ponzone, Riccardo; Pasini, Barbara | |
| Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 | 2016 | Silvestri, Valentina; Barrowdale, Daniel; Mulligan, Anna Marie; Neuhausen, Susan L.; Fox, Stephen; Karlan, Beth Y.; Mitchell, Gillian; James, Paul; Thull, Darcy L.; Zorn, Kristin K.; Carter, Natalie J.; Nathanson, Katherine L.; Domchek, Susan M.; Rebbeck, Timothy R.; Ramus, Susan J.; Nussbaum, Robert L.; Olopade, Olufunmilayo I.; Rantala, Johanna; Yoon, Sook-Yee; Caligo, Maria A.; Spugnesi, Laura; Bojesen, Anders; Pedersen, Inge Sokilde; Thomassen, Mads; Jensen, Uffe Birk; Toland, Amanda Ewart; Senter, Leigha; Andrulis, Irene L.; Glendon, Gord; Hulick, Peter J.; Imyanitov, Evgeny N.; Greene, Mark H.; Mai, Phuong L.; Singer, Christian F.; Rappaport-Fuerhauser, Christine; Kramer, Gero; Vijai, Joseph; Offit, Kenneth; Robson, Mark; Lincoln, Anne; Jacobs, Lauren; Machackova, Eva; Foretova, Lenka; Navratilova, Marie; Vasickova, Petra; Couch, Fergus J.; Hallberg, Emily; Ruddy, Kathryn J.; Sharma, Priyanka; Kim, Sung-Won; Teixeira, Manuel R.; Pinto, Pedro; Montagna, Marco; Matricardi, Laura; Arason, Adalgeir; Johannsson, Oskar Th; Barkardottir, Rosa B.; Jakubowska, Anna; Lubinski, Jan; Izquierdo, Angel; Pujana, Miguel Angel; Balmaã±a, Judith; Diez, Orland; Ivady, Gabriella; Papp, Janos; Olah, Edith; Kwong, Ava; Nevanlinna, Heli; Aittomã¤ki, Kristiina; Perez Segura, Pedro; Caldes, Trinidad; Van Maerken, Tom; Poppe, Bruce; Claes, Kathleen B.M.; Isaacs, Claudine; Elan, Camille; Lasset, Christine; Stoppa-Lyonnet, Dominique; Barjhoux, Laure; Belotti, Muriel; Meindl, Alfons; Gehrig, Andrea; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Hahnen, Eric; Kast, Karin; Arnold, Norbert; Varon-Mateeva, Raymonda; Wand, Dorothea; Godwin, Andrew K.; Evans, D.Gareth; Frost, Debra; Perkins, Jo; Adlard, Julian; Izatt, Louise; Platte, Radka; Eeles, Ros; Ellis, Steve; Hamann, Ute; Garber, Judy; Fostira, Florentia; Fountzilas, George; Pasini, Barbara; Giannini, Giuseppe; Rizzolo, Piera; Russo, Antonio; Cortesi, Laura; Papi, Laura; Varesco, Liliana; Palli, Domenico; Zanna, Ines; Savarese, Antonella; Radice, Paolo; Manoukian, Siranoush; Peissel, Bernard; Barile, Monica; Bonanni, Bernardo; Viel, Alessandra; Pensotti, Valeria; Tommasi, Stefania; Peterlongo, Paolo; Weitzel, Jeffrey N.; Osorio, Ana; Benitez, Javier; Mcguffog, Lesley; Healey, Sue; Gerdes, Anne-Marie; Ejlertsen, Bent; Hansen, Thomas V.O.; Steele, Linda; Ding, Yuan Chun; Tung, Nadine; Janavicius, Ramunas; Goldgar, David E.; Buys, Saundra S.; Daly, Mary B.; Bane, Anita; Terry, Mary Beth; John, Esther M.; Southey, Melissa; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Ottini, Laura | |
| Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study | 2016 | Azzollini, Jacopo; Scuvera, Giulietta; Bruno, Eleonora; Pasanisi, Patrizia; Zaffaroni, Daniela; Calvello, Mariarosaria; Pasini, Barbara; Ripamonti, Carla B.; Colombo, Mara; Pensotti, Valeria; Radice, Paolo; Peissel, Bernard; Manoukian, Siranoush | |
| CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma | 2016 | Betti, M; Aspesi, A; Biasi, A; Casalone, E; Ferrante, D; Ogliara, P; Gironi, Lc; Giorgione, R; Farinelli, P; Grosso, F; Libener, R; Rosato, S; Turchetti, D; Maffè, A; Casadio, C; Ascoli, V; Dianzani, C; Colombo, E; Piccolini, E; Pavesi, M; Miccoli, S; Mirabelli, D; Bracco, C; Righi, L; Boldorini, R; Papotti, M; Matullo, G; Magnani, C; Pasini, B; Dianzani, I | |
| High frequency of genetic variants in DNA repair genes in patients with multiple primary tumors and/or belonging to families with cluster of infrequent cancers | 2015 | Casalone Elisabetta, Vignolo Lutati Francesca, Bracco Cecilia, Casalis Cavalchini Guido Claudio, Ogliara Paola, Ferrando Barbara, Russo Alessia, Mandrile Giorgia, Candita Luisa, Majore Silvia, Grammatico Paola, Genuardi Maurizio, Matullo Giuseppe, Pasini Barbara | |
| Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer | 2015 | Rebbeck TR; Mitra N; Wan F; Sinilnikova OM; Healey S; McGuffog L; Mazoyer S; Chenevix-Trench G; Easton DF; Antoniou AC; Nathanson KL; CIMBA Consortium; Laitman Y; Kushnir A; Paluch-Shimon S; Berger R; Zidan J; Friedman E; Ehrencrona H; Stenmark-Askmalm M; Einbeigi Z; Loman N; Harbst K; Rantala J; Melin B; Huo D; Olopade OI; Seldon J; Ganz PA; Nussbaum RL; Chan SB; Odunsi K; Gayther SA; Domchek SM; Arun BK; Lu KH; Mitchell G; Karlan BY; Walsh C; Lester J; Godwin AK; Pathak H; Ross E; Daly MB; Whittemore AS; John EM; Miron A; Terry MB; Chung WK; Goldgar DE; Buys SS; Janavicius R; Tihomirova L; Tung N; Dorfling CM; van Rensburg EJ; Steele L; Neuhausen SL; Ding YC; Ejlertsen B; Gerdes AM; Hansen Tv; Ramón y Cajal T; Osorio A; Benitez J; Godino J; Tejada MI; Duran M; Weitzel JN; Bobolis KA; Sand SR; Fontaine A; Savarese A; Pasini B; Peissel B; Bonanni B; Zaffaroni D; Vignolo-Lutati F; Scuvera G; Giannini G; Bernard L; Genuardi M; Radice P; Dolcetti R; Manoukian S; Pensotti V; Gismondi V; Yannoukakos D; Fostira F; Garber J; Torres D; Rashid MU; Hamann U; Peock S; Frost D; Platte R; Evans DG; Eeles R; Davidson R; Eccles D; Cole T; Cook J; Brewer C; Hodgson S; Morrison PJ; Walker L; Porteous ME; Kennedy MJ; Izatt L; Adlard J; Donaldson A; Ellis S; Sharma P; Schmutzler RK; Wappenschmidt B; Becker A; Rhiem K; Hahnen E; Engel C; Meindl A; Engert S; Ditsch N; Arnold N; Plendl HJ; Mundhenke C; Niederacher D; Fleisch M; Sutter C; Bartram CR; Dikow N; Wang-Gohrke S; Gadzicki D; Steinemann D; Kast K; Beer M; Varon-Mateeva R; Gehrig A; Weber BH; Stoppa-Lyonnet D; Sinilnikova OM; Mazoyer S; Houdayer C; Belotti M; Gauthier-Villars M; Damiola F; Boutry-Kryza N; Lasset C; Sobol H; Peyrat JP; Muller D; Fricker JP; Collonge-Rame MA; Mortemousque I; Nogues C; Rouleau E; Isaacs C; De Paepe A; Poppe B; Claes K; De Leeneer K; Piedmonte M; Rodriguez G; Wakely K; Boggess J; Blank SV; Basil J; Azodi M; Phillips KA; Caldes T; de la Hoya M; Romero A; Nevanlinna H; Aittomäki K; van der Hout AH; Hogervorst FB; Verhoef S; Collée JM; Seynaeve C; Oosterwijk JC; Gille JJ; Wijnen JT; Gómez Garcia EB; Kets CM; Ausems MG; Aalfs CM; Devilee P; Mensenkamp AR; Kwong A; Olah E; Papp J; Diez O; Lazaro C; Darder E; Blanco I; Salinas M; Jakubowska A; Lubinski J; Gronwald J; Jaworska-Bieniek K; Durda K; Sukiennicki G; Huzarski T; Byrski T; Cybulski C; Toloczko-Grabarek A; Złowocka-Perłowska E; Menkiszak J; Arason A; Barkardottir RB; Simard J; Laframboise R; Montagna M; Agata S; Alducci E; Peixoto A; Teixeira MR; Spurdle AB; Lee MH; Park SK; Kim SW; Friebel TM; Couch FJ; Lindor NM; Pankratz VS; Guidugli L; Wang X; Tischkowitz M; Foretova L; Vijai J; Offit K; Robson M; Rau-Murthy R; Kauff N; Fink-Retter A; Singer CF; Rappaport C; Gschwantler-Kaulich D; Pfeiler G; Tea MK; Berger A; Greene MH; Mai PL; Imyanitov EN; Toland AE; Senter L; Bojesen A; Pedersen IS; Skytte AB; Sunde L; Thomassen M; Moeller ST; Kruse TA; Jensen UB; Caligo MA; Aretini P; Teo SH; Selkirk CG; Hulick PJ; Andrulis I | |
| Germline CDKN2A mutations in childhood melanoma: A case of melanoma-pancreatic cancer syndrome | 2015 | Gironi, Laura Cristina; Colombo, Enrico; Farinelli, Pamela; Giorgione, Roberto; Bozzola, Cristina; Ogliara, Paola; Pasini, Barbara | |
| Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications | 2015 | Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro | |
| Two new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations identified in a cohort of Italian breast and ovarian cancer families. | 2014 | Vignolo Lutati F; Casalis Cavalchini G; Sapino A; Pasini B | |
| Tumours of the ovary. Serous Tumors | 2014 | Seidman JD; Bell DA; Crum CP; Gilks CB; Kurman RJ; Levine DA; Longacre TA; Pasini B; Riva C; Sherman ME; Shih IM; Singer G; Soslow R; Vang R. | |
| Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers. | 2014 | Kotsopoulos J, Lubinski J, Gronwald J, Cybulski C, Demsky R, Neuhausen SL, Kim-Sing C, Tung N, Friedman S, Senter L, Weitzel J, Karlan B, Moller P, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group: Lynch HT, Singer C, Eng C, Mitchell G, Huzarski T, McCuaig J, Hughes K, Mills G, Ghadirian P, Eisen A, Gilchrist D, Blum JL, Zakalik D, Pal T, Daly M, Weber B, Snyder C, Fallen T, Chudley A, Lunn J, Donenberg T, Kurz RN, Saal H, Garber J, Rennert G, Sweet K, Gershoni-Baruch R, Rappaport C, Lemire E, Stoppa-Lyonnet D, Olopade OI, Merajver S, Bordeleau L, Cullinane CA, Friedman E, McKinnon W, Wood M, Rayson D, Meschino W, McLennan J, Costalas JW, Reilly RE, Vadaparampil S, Offit K, Kauff N, Klijn J, Euhus D, Kwong A, Isaacs C, Couch F, Manoukian S, Byrski T, Elser C, Panchal S, Armel S, Nanda S, Metcalfe K, Poll A, Rosen B, Foulkes WD, Rebbeck T, Ainsworth P, Robidoux A, Warner E, Maehle L, Osborne M, Evans G, Pasini B, Ginsburg O, Cohen S, Bohdan G, Jakubowska A, Little J | |
| Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome | 2014 | G. C. Casalis Cavalchini; D. Giachino; G. Mandrile; I. Borelli; M. Micheletti; T. Venesio; M. De Marchi; B. Pasini | |
| A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma. | 2014 | Frigerio S; Disciglio V; Manoukian S; Peissel B; Della Torre G; Maurichi A; Collini P; Pasini B; Gotti G; Ferrari A; Rivoltini L; Massimino M; Rodolfo M. | |
| A germline mismatch repair mutation possibly leading to a de novo NF1 germline mutation. | 2014 | Bracco C; Borelli I; Micheletti M; Martorana D;Grosso E; Pasini B | |
| Differences and homologies of chromosomal alterations within and between breast cancer cell lines: a clustering analysis | 2014 | Milena Rondón-Lagos; Ludovica Verdun Di Cantogno; Caterina Marchiò; Nelson Rangel; Cesar Payan-Gomez; Patrizia Gugliotta; Cristina Botta; Gianni Bussolati; Sandra R Ramírez-Clavijo; Barbara Pasini;Anna Sapino | |
| A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns | 2014 | Iolanda Borelli;Guido C. Casalis Cavalchini;Serena Del Peschio;Monica Micheletti;Tiziana Venesio;Ivana Sarotto;Anna Allavena;Luisa Delsedime;Marco A. Barberis;Giorgia Mandrile;Paola Berchialla;Paola Ogliara;Cecilia Bracco;Barbara Pasini |
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