PASINI, Barbara

PASINI, Barbara  

SCIENZE MEDICHE  

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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 2013 Ciavarella M; Coco M; Baorda F; Stanziale P; Chetta M; Bisceglia L; Palumbo P; Bengala M; Raiteri P; Silengo M; Caldarini C; Facchini R; Lala R; Cavaliere ML; De Brasi D; Pasini B; Zelante L; Guarnieri V; D'Agruma L.
A case of medullary thyroid carcinoma, parathyroid focal hyperplasia and pancreatic neuroendocrine tumor without RET and MEN1 mutations 2008 Pasini B; Ferrando B; Menegatti E; Casalis Cavalchini G; Ricci MT; Asioli S; Bussolati G; De Angelis G; Bisbocci D
A comparison of bilateral breast cancers in BRCA carriers 2005 WEITZEL JN; ROBSON M; PASINI B; MANOUKIAN S; STOPPA-LYONNET D; LYNCH HT; MCLENNAN J; FOULKES WD; WAGNER T; TUNG N; GHADIRIAN P; OLOPADE O; ISAACS C; KIM-SING C; MOLLER P; NEUHAUSEN SL; METCALFE K; SUN P; NAROD SA.
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
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 mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 1994 Hofstra RM; Landsvater RM; Ceccherini I; Stulp RP; Stelwagen T; Yin L; Pasini B; Höppener JW; van Amstel HK; Romeo G; Lips CJM; Buys C.
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome) 2010 Rongioletti F; Fausti V; Ferrando B; Parodi A; Mandich P; Pasini B
A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications 2008 Prontera P; Ferrando B; Giuliani V; Falcinelli F; Mencarelli A; Rogaia D; Pasini B; Donti E.
Acromegaly and Familial Paragangliomas: A New Syndrome? 2010 Xekouki P; Azevedo MF; Pasini B; Lytras A; Lange E; Keil M; Pacak K; Horvath A; Tolis G; Stratakis CA.
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers 2007 KOTSOPOULOS J; LUBINSKI J; LYNCH HT; KLIJN J; GHADIRIAN P; NEUHAUSEN SL; KIM-SING C; FOULKES WD; MOLLER P; ISAACS C; DOMCHEK S; RANDALL S; OFFIT K; TUNG N; AINSWORTH P; GERSHONI-BARUCH R; EISEN A; DALY M; KARLAN B; SAAL HM; COUCH F; PASINI B; WAGNER T; FRIEDMAN E; RENNERT G; ENG C; WEITZEL J; SUN P; NAROD SA
Analisi genetica del gene CYP21 in forme non classiche di deficit di 21-beta-idrossilasi 2008 F. Restivo; E. Napolitano; C. Manieri; S. Einaudi; B. Pasini; E. Menegatti
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.
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
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers 2018 Ko, Kwang-Pil; Kim, Shana J; Huzarski, Tomasz; Gronwald, Jacek; Lubinski, Jan; Lynch, Henry T; Armel, Susan; Park, Sue K; Karlan, Beth; Singer, Christian F; Neuhausen, Susan L; Narod, Steven A; Kotsopoulos, Joanne; Snyder C, Meschino W, Demsky R, Ainsworth P, Panabaker K, Taylor M, Couch F, Manoukian S, Rappaport C, Pasini B, Daly MB, Olopade O, Steele L, Saal H, Fallen T, Wood M, McKinnon W, Lemire E, Chudley AE, Serfas K, Sweet K, Bordeleau L, Elser C, Panchal S, Zakalik D, Vadaparampil ST, Ginsburg O, Hurst S, Cullinane CA, Reilly RE, Blum JL, Ross T, Mauer C, Kwong A, Cybulski C, McCuaig J, Merajver S, Friedman E, Rayson D, Euhus D, Foulkes WD, Senter L, Tung N, Weitzel JN, Eisen A, Metcalfe K, Eng C, Pal T, Evans G, Moller P, Rosen B, Isaacs C.
Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family 2005 ARDUINO C; SALACONE P; PASINI B; BRUSCO A; SALMIN P; BACILLO E; ROBECCHI A; CESTINO L; CIRILLO S; REGGE D; CAPPELLO N; GAIA E
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
Athypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germ line mutation carriers 2004 CARCANGIU ML; RADICE P; MANOUKIAN S; SPATTI GB; GOBBO M; PENSOTTI V; CRUCIANELLI R; PASINI B
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. 2003 Antoniou A; Pharoah PD; Narod S; Risch HA; Eyfjord JE; Hopper JL; Loman N; Olsson H; Johannsson O; Borg A; Pasini B; Radice P; Manoukian S; Eccles DM; Tang N; Olah E; Anton-Culver H; Warner E; Lubinski J; Gronwald J; Gorski B; Tulinius H; Thorlacius S; Eerola H; Nevanlinna H; Syrjäkoski K; Kallioniemi OP; Thompson D; Evans C; Peto J; Lalloo F; Evans DG; Easton DF.
Le basi molecolari della suscettibilità ereditaria ai tumori. 1999 Radice P; Pasini B; Pienotti MA.
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