Sfoglia per Autore
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2023-01-01 Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Busè, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolò; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
2023-01-01 Stolarova, Lenka; Kleiblova, Petra; Zemankova, Petra; Stastna, Barbora; Janatova, Marketa; Soukupova, Jana; Achatz, Maria Isabel; Ambrosone, Christine; Apostolou, Paraskevi; Arun, Banu K; Auer, Paul; Barnard, Mollie; Bertelsen, Birgitte; Blok, Marinus J; Boddicker, Nicholas; Brunet, Joan; Burnside, Elizabeth S; Calvello, Mariarosaria; Campbell, Ian; Chan, Sock Hoai; Chen, Fei; Chiang, Jian Bang; Coppa, Anna; Cortesi, Laura; Crujeiras-González, Ana; De Leeneer, Kim; De Putter, Robin; DePersia, Allison; Devereux, Lisa; Domchek, Susan; Efremidis, Anna; Engel, Christoph; Ernst, Corinna; Evans, D Gareth R; Feliubadaló, Lidia; Fostira, Florentia; Fuentes-Ríos, Olivia; Gómez-García, Encarna B; González, Sara; Haiman, Christopher; Hansen, Thomas van Overeem; Hauke, Jan; Hodge, James; Hu, Chunling; Huang, Hongyan; Ishak, Nur Diana Binte; Iwasaki, Yusuke; Konstantopoulou, Irene; Kraft, Peter; Lacey, James; Lázaro, Conxi; Li, Na; Lim, Weng Khong; Lindstrom, Sara; Lori, Adriana; Martinez, Elana; Martins, Alexandra; Matsuda, Koichi; Matullo, Giuseppe; McInerny, Simone; Michailidou, Kyriaki; Montagna, Marco; Monteiro, Alvaro N A; Mori, Luigi; Nathanson, Katherine; Neuhausen, Susan L; Nevanlinna, Heli; Olson, Janet E; Palmer, Julie; Pasini, Barbara; Patel, Alpa; Piane, Maria; Poppe, Bruce; Radice, Paolo; Renieri, Alessandra; Resta, Nicoletta; Richardson, Marcy E; Rosseel, Toon; Ruddy, Kathryn J; Santamariña, Marta; Dos Santos, Elizabeth Santana; Teras, Lauren; Toland, Amanda E; Trentham-Dietz, Amy; Vachon, Celine M; Volk, Alexander E; Weber-Lassalle, Nana; Weitzel, Jeffrey N; Wiesmuller, Lisa; Winham, Stacey; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yao, Song; Zampiga, Valentina; Zethoven, Magnus; Zhang, Ze Wen; Zima, Tomas; Spurdle, Amanda B; Vega, Ana; Rossing, Maria; Del Valle, Jesús; De Nicolo, Arcangela; Hahnen, Eric; Claes, Kathleen B M; Ngeow, Joanne; Momozawa, Yukihide; James, Paul A; Couch, Fergus J; Macurek, Libor; Kleibl, Zdenek
Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report
2023-01-01 Zumstein, L; Tuninetti, V; Vaira, M; Siatis, D; Palermo, F; Petracchini, M; Scotto, G; Turinetto, M; Piva, R; Pasini, B; Valabrega, G
A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
2023-01-01 Roveta, Fausto; Marcinnò, Andrea; Grassini, Alberto; Ferrandes, Fabio; Cermelli, Aurora; Boschi, Silvia; Gallone, Salvatore; Atzori, Cristiana; Imperiale, Daniele; Dentelli, Patrizia; Pasini, Barbara; Brusco, Alfredo; Rubino, Elisa; Rainero, Innocenzo
Identification of a robust DNA methylation signature for Fanconi anemia.
2023-01-01 3. Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M
Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
2023-01-01 Persico I.; Fiscarelli I.; Pelle A.; Faleschini M.; Pasini B.; Savoia A.; Bottega R.
Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center
2023-01-01 Roccuzzo, Gabriele; Giordano, Silvia; Granato, Thomas; Cavallo, Francesco; Mastorino, Luca; Avallone, Gianluca; Pasini, Barbara; Quaglino, Pietro; Ribero, Simone
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery
2022-01-01 Parasiliti-Caprino, Mirko; Bioletto, Fabio; Lopez, Chiara; Maletta, Francesca; Caputo, Marina; Gasco, Valentina; La Grotta, Antonio; Limone, Paolo; Borretta, Giorgio; Volante, Marco; Papotti, Mauro; Terzolo, Massimo; Morino, Mario; Pasini, Barbara; Veglio, Franco; Ghigo, Ezio; Arvat, Emanuela; Maccario, Mauro
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies
2022-01-01 Russo, A; Incorvaia, L; Capoluongo, E; Tagliaferri, P; Gori, S; Cortesi, L; Genuardi, M; Turchetti, D; De Giorgi, U; Di Maio, M; Barberis, M; Dessena, M; Del Re, M; Lapini, A; Luchini, C; Jereczek-Fossa, B A; Sapino, A; Cinieri, S; Italian Scientific Societies; Giordano Beretta, Maria Angela Bella, Sergio Bracarda, Nicoletta Colombo, Vincenza Conteduca, Lucia Del Mastro, Antonio Galvano, Valerio Gristina, Valentina Guarneri, Nicla La Verde, Domenica Lorusso, Paolo Marchetti, Nicola Normanno, Laura Ottini, Matilde Pensabene, Sandro Pignata, Giuseppe Procopio, Enrico Ricevuto, Nicola Silvestris, Pierfrancesco Tassone, Marcello Tucci, Vittorio Donato, Silvia Carrara, Salvatore Paiella, Oreste Gentilini, Roberta Gunelli, Fabrizio Nicolis, Fiamma Buttitta, Maurizio Colecchia, Matteo Fassan, Umberto Malapelle, Antonio Marchetti, Caterina Marchio', Aldo Scarpa, Mauro Truini, Giuseppe Zamboni, Massimo Gion, Chiara Trevisiol, Alessandro Gronchi, Romano Danesi, Vito Di Marco, Paola Carrera, Paola Ghiorzo, Barbara Pasini, Liliana Varesco, Walter Artibani, Giuseppe Ludovico, Ornella Campanella, Simona Vatrano, Enrico Tagliafico
Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors
2022-01-01 Berrino E.; Filippi R.; Visintin C.; Peirone S.; Fenocchio E.; Farinea G.; Veglio F.; Aglietta M.; Sapino A.; Cereda M.; Visintin R.; Pasini B.; Marchio' C.
From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma
2022-01-01 Parasiliti-Caprino M, Bioletto F, Lopez C, Bollati M, Maletta F, Caputo M, Gasco V, La Grotta A, Limone P, Borretta G, Volante M, Papotti M, Pia A, Terzolo M, Morino M, Pasini B, Veglio F, Ghigo E, Arvat E, Maccario M
Gynecological Cancers in Lynch Syndrome: A Comparison of the Histological Features with Sporadic Cases of the General Population
2022-01-01 Bounous, V.E.; Robba, E.; Perotto, S.; Pasini, B.; Tomasi Cont, N.; Ricci, M.T.; Ditto, A.; Vitellaro, M.; Raspagliesi, F.; Biglia, N.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
2022-01-01 Li H.; Engel C.; de la Hoya M.; Peterlongo P.; Yannoukakos D.; Livraghi L.; Radice P.; Thomassen M.; Hansen T.V.O.; Gerdes A.-M.; Nielsen H.R.; Caputo S.M.; Zambelli A.; Borg A.; Solano A.; Thomas A.; Parsons M.T.; Antoniou A.C.; Leslie G.; Yang X.; Chenevix-Trench G.; Caldes T.; Kwong A.; Pedersen I.S.; Lautrup C.K.; John E.M.; Terry M.B.; Hopper J.L.; Southey M.C.; Andrulis I.L.; Tischkowitz M.; Janavicius R.; Boonen S.E.; Kroeldrup L.; Varesco L.; Hamann U.; Vega A.; Palmero E.I.; Garber J.; Montagna M.; Van Asperen C.J.; Foretova L.; Greene M.H.; Selkirk T.; Moller P.; Toland A.E.; Domchek S.M.; James P.A.; Thorne H.; Eccles D.M.; Nielsen S.M.; Manoukian S.; Pasini B.; Caligo M.A.; Lazaro C.; Kirk J.; Wappenschmidt B.; Spurdle A.B.; Couch F.J.; Schmutzler R.; Goldgar D.E.
BRCA1-associated protein 1 c.368delG mutation leads to the development of multiple BAPomas and cutaneous melanomas: A novel pathogenic variant in BRCA1-associated protein tumor predisposition syndrome
2022-01-01 Cavallo F.; Roccuzzo G.; Merli M.; Avallone G.; Zocchi L.; Ogliara P.; Pasini B.; Quaglino P.; Ribero S.
Hypersensitivity to platinum salts according to BRCA status in ovarian cancer: A retrospective analysis of clinical outcomes and systematic review of literature
2021-01-01 Giannone G.; Scotto G.; Katsaros D.; De Giorgi U.; Farolfi A.; Borella F.; Cosma S.; Ferrero A.; Mangiacotti S.; Villa M.; Tuninetti V.; Ghisoni E.; Turinetto M.; Mittica G.; Gemmiti S.; Zavallone L.; Aglietta M.; Pasini B.; Di Maio M.; Valabrega G.
Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy
2021-01-01 Figlioli G.; De Nicolo A.; Catucci I.; Manoukian S.; Peissel B.; Azzollini J.; Beltrami B.; Bonanni B.; Calvello M.; Bondavalli D.; Pasini B.; Lutati F.V.; Ogliara P.; Zuradelli M.; Pensotti V.; De Vecchi G.; Volorio S.; Verderio P.; Pizzamiglio S.; Matullo G.; Aneli S.; Birolo G.; Zanardi F.; Tondini C.; Zambelli A.; Livraghi L.; Franchi M.; Radice P.; Peterlongo P.
Cell-free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification.
2021-01-01 Pavanello E.; Sciarrone A.; Guaraldo V.; Muccinelli E.; Ciuffreda V.P.; Sauro P.; Bondielli G.; Mirante S.; Mengozzi G.; Viora E.; Cuckle H.; Pasini B.
Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit
2020-01-01 Burrello J.; Monticone S.; Losano I.; Cavaglia G.; Buffolo F.; Tetti M.; Covella M.; Rabbia F.; Veglio F.; Pasini B.; Williams T.A.; Mulatero P.
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
2019-01-01 Giorgio, Elisa; Garelli, Emanuela; Carando, Adriana; Bellora, Stefania; Rubino, Elisa; Quarello, Paola; Sirchia, Fabio; Marrama, Federico; Gallone, Salvatore; Grosso, Enrico; Pasini, Barbara; Massa, Roberto; Brussino, Alessandro; Brusco, Alfredo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility | 2023 | Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Busè, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolò; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco | |
| ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. | 2023 | Stolarova, Lenka; Kleiblova, Petra; Zemankova, Petra; Stastna, Barbora; Janatova, Marketa; Soukupova, Jana; Achatz, Maria Isabel; Ambrosone, Christine; Apostolou, Paraskevi; Arun, Banu K; Auer, Paul; Barnard, Mollie; Bertelsen, Birgitte; Blok, Marinus J; Boddicker, Nicholas; Brunet, Joan; Burnside, Elizabeth S; Calvello, Mariarosaria; Campbell, Ian; Chan, Sock Hoai; Chen, Fei; Chiang, Jian Bang; Coppa, Anna; Cortesi, Laura; Crujeiras-González, Ana; De Leeneer, Kim; De Putter, Robin; DePersia, Allison; Devereux, Lisa; Domchek, Susan; Efremidis, Anna; Engel, Christoph; Ernst, Corinna; Evans, D Gareth R; Feliubadaló, Lidia; Fostira, Florentia; Fuentes-Ríos, Olivia; Gómez-García, Encarna B; González, Sara; Haiman, Christopher; Hansen, Thomas van Overeem; Hauke, Jan; Hodge, James; Hu, Chunling; Huang, Hongyan; Ishak, Nur Diana Binte; Iwasaki, Yusuke; Konstantopoulou, Irene; Kraft, Peter; Lacey, James; Lázaro, Conxi; Li, Na; Lim, Weng Khong; Lindstrom, Sara; Lori, Adriana; Martinez, Elana; Martins, Alexandra; Matsuda, Koichi; Matullo, Giuseppe; McInerny, Simone; Michailidou, Kyriaki; Montagna, Marco; Monteiro, Alvaro N A; Mori, Luigi; Nathanson, Katherine; Neuhausen, Susan L; Nevanlinna, Heli; Olson, Janet E; Palmer, Julie; Pasini, Barbara; Patel, Alpa; Piane, Maria; Poppe, Bruce; Radice, Paolo; Renieri, Alessandra; Resta, Nicoletta; Richardson, Marcy E; Rosseel, Toon; Ruddy, Kathryn J; Santamariña, Marta; Dos Santos, Elizabeth Santana; Teras, Lauren; Toland, Amanda E; Trentham-Dietz, Amy; Vachon, Celine M; Volk, Alexander E; Weber-Lassalle, Nana; Weitzel, Jeffrey N; Wiesmuller, Lisa; Winham, Stacey; Yadav, Siddhartha; Yannoukakos, Drakoulis; Yao, Song; Zampiga, Valentina; Zethoven, Magnus; Zhang, Ze Wen; Zima, Tomas; Spurdle, Amanda B; Vega, Ana; Rossing, Maria; Del Valle, Jesús; De Nicolo, Arcangela; Hahnen, Eric; Claes, Kathleen B M; Ngeow, Joanne; Momozawa, Yukihide; James, Paul A; Couch, Fergus J; Macurek, Libor; Kleibl, Zdenek | |
| Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report | 2023 | Zumstein, L; Tuninetti, V; Vaira, M; Siatis, D; Palermo, F; Petracchini, M; Scotto, G; Turinetto, M; Piva, R; Pasini, B; Valabrega, G | |
| A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report | 2023 | Roveta, Fausto; Marcinnò, Andrea; Grassini, Alberto; Ferrandes, Fabio; Cermelli, Aurora; Boschi, Silvia; Gallone, Salvatore; Atzori, Cristiana; Imperiale, Daniele; Dentelli, Patrizia; Pasini, Barbara; Brusco, Alfredo; Rubino, Elisa; Rainero, Innocenzo | |
| Identification of a robust DNA methylation signature for Fanconi anemia. | 2023 | 3. Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M | |
| Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event | 2023 | Persico I.; Fiscarelli I.; Pelle A.; Faleschini M.; Pasini B.; Savoia A.; Bottega R. | |
| Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center | 2023 | Roccuzzo, Gabriele; Giordano, Silvia; Granato, Thomas; Cavallo, Francesco; Mastorino, Luca; Avallone, Gianluca; Pasini, Barbara; Quaglino, Pietro; Ribero, Simone | |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| Development and internal validation of a predictive model for the estimation of pheochromocytoma recurrence risk after radical surgery | 2022 | Parasiliti-Caprino, Mirko; Bioletto, Fabio; Lopez, Chiara; Maletta, Francesca; Caputo, Marina; Gasco, Valentina; La Grotta, Antonio; Limone, Paolo; Borretta, Giorgio; Volante, Marco; Papotti, Mauro; Terzolo, Massimo; Morino, Mario; Pasini, Barbara; Veglio, Franco; Ghigo, Ezio; Arvat, Emanuela; Maccario, Mauro | |
| Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies | 2022 | Russo, A; Incorvaia, L; Capoluongo, E; Tagliaferri, P; Gori, S; Cortesi, L; Genuardi, M; Turchetti, D; De Giorgi, U; Di Maio, M; Barberis, M; Dessena, M; Del Re, M; Lapini, A; Luchini, C; Jereczek-Fossa, B A; Sapino, A; Cinieri, S; Italian Scientific Societies; Giordano Beretta, Maria Angela Bella, Sergio Bracarda, Nicoletta Colombo, Vincenza Conteduca, Lucia Del Mastro, Antonio Galvano, Valerio Gristina, Valentina Guarneri, Nicla La Verde, Domenica Lorusso, Paolo Marchetti, Nicola Normanno, Laura Ottini, Matilde Pensabene, Sandro Pignata, Giuseppe Procopio, Enrico Ricevuto, Nicola Silvestris, Pierfrancesco Tassone, Marcello Tucci, Vittorio Donato, Silvia Carrara, Salvatore Paiella, Oreste Gentilini, Roberta Gunelli, Fabrizio Nicolis, Fiamma Buttitta, Maurizio Colecchia, Matteo Fassan, Umberto Malapelle, Antonio Marchetti, Caterina Marchio', Aldo Scarpa, Mauro Truini, Giuseppe Zamboni, Massimo Gion, Chiara Trevisiol, Alessandro Gronchi, Romano Danesi, Vito Di Marco, Paola Carrera, Paola Ghiorzo, Barbara Pasini, Liliana Varesco, Walter Artibani, Giuseppe Ludovico, Ornella Campanella, Simona Vatrano, Enrico Tagliafico | |
| Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors | 2022 | Berrino E.; Filippi R.; Visintin C.; Peirone S.; Fenocchio E.; Farinea G.; Veglio F.; Aglietta M.; Sapino A.; Cereda M.; Visintin R.; Pasini B.; Marchio' C. | |
| From SGAP-Model to SGAP-Score: A Simplified Predictive Tool for Post-Surgical Recurrence of Pheochromocytoma | 2022 | Parasiliti-Caprino M, Bioletto F, Lopez C, Bollati M, Maletta F, Caputo M, Gasco V, La Grotta A, Limone P, Borretta G, Volante M, Papotti M, Pia A, Terzolo M, Morino M, Pasini B, Veglio F, Ghigo E, Arvat E, Maccario M | |
| Gynecological Cancers in Lynch Syndrome: A Comparison of the Histological Features with Sporadic Cases of the General Population | 2022 | Bounous, V.E.; Robba, E.; Perotto, S.; Pasini, B.; Tomasi Cont, N.; Ricci, M.T.; Ditto, A.; Vitellaro, M.; Raspagliesi, F.; Biglia, N. | |
| Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants | 2022 | Li H.; Engel C.; de la Hoya M.; Peterlongo P.; Yannoukakos D.; Livraghi L.; Radice P.; Thomassen M.; Hansen T.V.O.; Gerdes A.-M.; Nielsen H.R.; Caputo S.M.; Zambelli A.; Borg A.; Solano A.; Thomas A.; Parsons M.T.; Antoniou A.C.; Leslie G.; Yang X.; Chenevix-Trench G.; Caldes T.; Kwong A.; Pedersen I.S.; Lautrup C.K.; John E.M.; Terry M.B.; Hopper J.L.; Southey M.C.; Andrulis I.L.; Tischkowitz M.; Janavicius R.; Boonen S.E.; Kroeldrup L.; Varesco L.; Hamann U.; Vega A.; Palmero E.I.; Garber J.; Montagna M.; Van Asperen C.J.; Foretova L.; Greene M.H.; Selkirk T.; Moller P.; Toland A.E.; Domchek S.M.; James P.A.; Thorne H.; Eccles D.M.; Nielsen S.M.; Manoukian S.; Pasini B.; Caligo M.A.; Lazaro C.; Kirk J.; Wappenschmidt B.; Spurdle A.B.; Couch F.J.; Schmutzler R.; Goldgar D.E. | |
| BRCA1-associated protein 1 c.368delG mutation leads to the development of multiple BAPomas and cutaneous melanomas: A novel pathogenic variant in BRCA1-associated protein tumor predisposition syndrome | 2022 | Cavallo F.; Roccuzzo G.; Merli M.; Avallone G.; Zocchi L.; Ogliara P.; Pasini B.; Quaglino P.; Ribero S. | |
| Hypersensitivity to platinum salts according to BRCA status in ovarian cancer: A retrospective analysis of clinical outcomes and systematic review of literature | 2021 | Giannone G.; Scotto G.; Katsaros D.; De Giorgi U.; Farolfi A.; Borella F.; Cosma S.; Ferrero A.; Mangiacotti S.; Villa M.; Tuninetti V.; Ghisoni E.; Turinetto M.; Mittica G.; Gemmiti S.; Zavallone L.; Aglietta M.; Pasini B.; Di Maio M.; Valabrega G. | |
| Analysis of italian BRCA1/2 pathogenic variants identifies a private spectrum in the population from the Bergamo Province in northern Italy | 2021 | Figlioli G.; De Nicolo A.; Catucci I.; Manoukian S.; Peissel B.; Azzollini J.; Beltrami B.; Bonanni B.; Calvello M.; Bondavalli D.; Pasini B.; Lutati F.V.; Ogliara P.; Zuradelli M.; Pensotti V.; De Vecchi G.; Volorio S.; Verderio P.; Pizzamiglio S.; Matullo G.; Aneli S.; Birolo G.; Zanardi F.; Tondini C.; Zambelli A.; Livraghi L.; Franchi M.; Radice P.; Peterlongo P. | |
| Cell-free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification. | 2021 | Pavanello E.; Sciarrone A.; Guaraldo V.; Muccinelli E.; Ciuffreda V.P.; Sauro P.; Bondielli G.; Mirante S.; Mengozzi G.; Viora E.; Cuckle H.; Pasini B. | |
| Prevalence of Hypokalemia and Primary Aldosteronism in 5100 Patients Referred to a Tertiary Hypertension Unit | 2020 | Burrello J.; Monticone S.; Losano I.; Cavaglia G.; Buffolo F.; Tetti M.; Covella M.; Rabbia F.; Veglio F.; Pasini B.; Williams T.A.; Mulatero P. | |
| Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification | 2019 | Giorgio, Elisa; Garelli, Emanuela; Carando, Adriana; Bellora, Stefania; Rubino, Elisa; Quarello, Paola; Sirchia, Fabio; Marrama, Federico; Gallone, Salvatore; Grosso, Enrico; Pasini, Barbara; Massa, Roberto; Brussino, Alessandro; Brusco, Alfredo |
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