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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: varesco l. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
Gismondi V, Bafico A, Biticchi R, Pedemonte S, Molina F, Heouaine A, Sala P, Bertario L, Presciuttini S, Strigini P, Groden J, Varesco L. Gismondi V, et al. Among authors: varesco l. Hum Mutat. 1997;9(4):370-3. doi: 10.1002/(SICI)1098-1004(1997)9:4<370::AID-HUMU14>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9101302 No abstract available.
The familial adenomatous polyposis region exhibits many different haplotypes.
Stella A, Resta N, Polizzi A, Montera M, Cariola F, Susca F, Gismondi V, Bertario L, Marchese C, Tenconi R, Tibiletti MG, Izzo P, Gentile M, Prete F, Pannarale O, Di Matteo G, Sala P, Varesco L, Mareni C, Guanti G. Stella A, et al. Among authors: varesco l. Hum Genet. 1998 Jun;102(6):624-8. doi: 10.1007/s004390050752. Hum Genet. 1998. PMID: 9703421
Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.
Gismondi V, Bonelli L, Sciallero S, Margiocco P, Viel A, Radice P, Mondini P, Sala P, Montera MP, Mareni C, Quaia M, Fornasarig M, Gentile M, Pietro G, Rossini P, Arrigoni A, Meucci GM, Bruzzi P, Varesco L. Gismondi V, et al. Among authors: varesco l. Genet Test. 2002 Winter;6(4):313-7. doi: 10.1089/10906570260471859. Genet Test. 2002. PMID: 12537656
130 results