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ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: resta n. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
Bukvic N, De Rinaldis M, Chetta M, Trabacca A, Bassi MT, Marsano RM, Holoubkova L, Rivieccio M, Oro M, Resta N, Kerkhof J, Sadikovic B, Viggiano L. Bukvic N, et al. Among authors: resta n. Genes (Basel). 2024 Jun 22;15(7):826. doi: 10.3390/genes15070826. Genes (Basel). 2024. PMID: 39062605 Free PMC article. Review.
STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.
Resta N, Simone C, Mareni C, Montera M, Gentile M, Susca F, Gristina R, Pozzi S, Bertario L, Bufo P, Carlomagno N, Ingrosso M, Rossini FP, Tenconi R, Guanti G. Resta N, et al. Cancer Res. 1998 Nov 1;58(21):4799-801. Cancer Res. 1998. PMID: 9809980
Nine novel APC mutations in Italian FAP patients.
Resta N, Stella A, Susca F, Montera M, Gentile M, Cariola F, Prete F, Tenconi R, Tibiletti MG, Logrieco G, Mattina T, Andriulli G, Caruso ML, Fiorente P, Russo S, Caputi-Jambrenghi O, Mareni C, Guanti G. Resta N, et al. Hum Mutat. 2001 May;17(5):434-5. doi: 10.1002/humu.1125. Hum Mutat. 2001. PMID: 11317365
142 results