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Page 1
Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome.
Micaglio E, Monasky MM, Resta N, Bagnulo R, Ciconte G, Giannelli L, Locati ET, Vicedomini G, Borrelli V, Ghiroldi A, Anastasia L, Benedetti S, Di Resta C, Ferrari M, Pappone C. Micaglio E, et al. Among authors: resta n. Int J Mol Sci. 2019 Oct 4;20(19):4920. doi: 10.3390/ijms20194920. Int J Mol Sci. 2019. PMID: 31590245 Free PMC article.
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.
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.
Bukvic N, Resta N, Bukvic D, Susca FC, Bagnulo R, Fanelli M, Guanti G. Bukvic N, et al. Among authors: resta n. Twin Res Hum Genet. 2007 Aug;10(4):655-7. doi: 10.1375/twin.10.4.655. Twin Res Hum Genet. 2007. PMID: 17708708 Free article.
In a previously published article (Resta et al., 2006) on Robert's syndrome in prenatal diagnosis, a case of a 36-year-old woman and her 36-year-old, nonconsanguineous husband were presented. ...It seems that the SCE frequency increased proportionally to the cell cycle inc …
In a previously published article (Resta et al., 2006) on Robert's syndrome in prenatal diagnosis, a case of a 36-year-old woman and …
Papillary thyroid carcinoma in Peutz-Jeghers syndrome.
Triggiani V, Guastamacchia E, Renzulli G, Giagulli VA, Tafaro E, Licchelli B, Resta F, Sabbà C, Bagnulo R, Lastella P, Stella A, Resta N. Triggiani V, et al. Among authors: resta n, resta f. Thyroid. 2011 Nov;21(11):1273-7. doi: 10.1089/thy.2011.0063. Epub 2011 Aug 30. Thyroid. 2011. PMID: 21877933 Review.
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
Forte G, Grossi V, Celestini V, Lucisano G, Scardapane M, Varvara D, Patruno M, Bagnulo R, Loconte D, Giunti L, Petracca A, Giglio S, Genuardi M, Pellegrini F, Resta N, Simone C. Forte G, et al. Among authors: resta n. BMC Cancer. 2014 Sep 11;14:661. doi: 10.1186/1471-2407-14-661. BMC Cancer. 2014. PMID: 25208626 Free PMC article.
143 results