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 Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 2017 Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo
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 fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 2019 Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro
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
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.
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 2017 Giorgio, Elisa; Rubino, Elisa; Bruselles, Alessandro; Pizzi, Simone; Rainero, Innocenzo; Duca, Sergio; Sirchia, Fabio; Pasini, Barbara; Tartaglia, Marco; Brusco, Alfredo
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin 2013 I. Borelli; M.A. Barberis; F. Spina; G.C. Casalis Cavalchini; C. Vivanet; L. Balestrino; M. Micheletti; A. Allavena; P. Sala; C. Carcassi; B. Pasini
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
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