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Page 1
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.
Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise.
Robino C, Ralf A, Pasino S, De Marchi MR, Ballantyne KN, Barbaro A, Bini C, Carnevali E, Casarino L, Di Gaetano C, Fabbri M, Ferri G, Giardina E, Gonzalez A, Matullo G, Nutini AL, Onofri V, Piccinini A, Piglionica M, Ponzano E, Previderè C, Resta N, Scarnicci F, Seidita G, Sorçaburu-Cigliero S, Turrina S, Verzeletti A, Kayser M. Robino C, et al. Among authors: resta n. Forensic Sci Int Genet. 2015 Mar;15:56-63. doi: 10.1016/j.fsigen.2014.10.008. Epub 2014 Oct 14. Forensic Sci Int Genet. 2015. PMID: 25457630 Free 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.
Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97.
Thejer BM, Infantino V, Santarsiero A, Pappalardo I, Abatematteo FS, Teakel S, Van Oosterum A, Mach RH, Denora N, Lee BC, Resta N, Bagnulo R, Niso M, Contino M, Montsch B, Heffeter P, Abate C, Cahill MA. Thejer BM, et al. Among authors: resta n. Int J Mol Sci. 2023 Mar 28;24(7):6381. doi: 10.3390/ijms24076381. Int J Mol Sci. 2023. PMID: 37047353 Free PMC article.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G, Di Resta C, Perversi J, Forleo C, Maggi L, Politano L, Barison A, Previtali SC, Carboni N, Brun F, Pegoraro E, D'Amico A, Rodolico C, Magri F, Manzi RC, Palladino A, Isola F, Gigli L, Mongini TE, Semplicini C, Calore C, Ricci G, Comi GP, Ruggiero L, Bertini E, Bonomo P, Nigro G, Resta N, Emdin M, Favale S, Siciliano G, Santoro L, Sinagra G, Limongelli G, Ambrosi A, Ferrari M, Golzio PG, Bella PD, Benedetti S, Sala S; Italian Network for Laminopathies (NIL). Peretto G, et al. Among authors: resta n. Ann Intern Med. 2019 Oct 1;171(7):458-463. doi: 10.7326/M18-2768. Epub 2019 Sep 3. Ann Intern Med. 2019. PMID: 31476771
BRCAmut and "founder effect": a prospective study in a single academic institution.
Loizzi V, Cicinelli E, Santamaria F, Murgia F, Minicucci V, Resta L, Resta N, Natalicchio MI, Ranieri G, Cormio G. Loizzi V, et al. Among authors: resta n, resta l. Oncotarget. 2018 Apr 27;9(32):22353-22358. doi: 10.18632/oncotarget.24959. eCollection 2018 Apr 27. Oncotarget. 2018. PMID: 29854283 Free PMC article.
WITHDRAWN: Corrigendum to 'Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise' [Forensic. Sci. Int. Genet. 15 (2015) 56-63].
Robino C, Ralf A, Pasino S, De Marchi MR, Ballantyne KN, Barbaro A, Bini C, Carnevali E, Casarino L, Di Gaetano C, Fabbri M, Ferri G, Giardina E, Gonzalez A, Matullo G, Nutini AL, Onofri 5th, Piccinini A, Piglionica M, Ponzano E, Previderè C, Resta N, Scarnicci F, Seidita G, Sorçaburu-Cigliero S, Turrina S, Verzeletti A, Kayser M. Robino C, et al. Among authors: resta n. Forensic Sci Int Genet. 2018 Apr 5:S1872-4973(18)30195-9. doi: 10.1016/j.fsigen.2018.03.014. Online ahead of print. Forensic Sci Int Genet. 2018. PMID: 29627344 No abstract available.
The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).
Censi F, Tosto F, Floridia G, Marra M, Salvatore M, Baffico AM, Grasso M, Melis MA, Pelo E, Radice P, Ravani A, Rosatelli C, Resta N, Russo S, Seia M, Varesco L, Falbo V, Taruscio D. Censi F, et al. Among authors: resta n. Biomed Res Int. 2013;2013:739010. doi: 10.1155/2013/739010. Epub 2013 Jan 29. Biomed Res Int. 2013. PMID: 23484150 Free PMC article.
The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.
Fattorini P, Previderè C, Sorçaburu-Cigliero S, Marrubini G, Alù M, Barbaro AM, Carnevali E, Carracedo A, Casarino L, Consoloni L, Corato S, Domenici R, Fabbri M, Giardina E, Grignani P, Baldassarra SL, Moratti M, Nicolin V, Pelotti S, Piccinini A, Pitacco P, Plizza L, Resta N, Ricci U, Robino C, Salvaderi L, Scarnicci F, Schneider PM, Seidita G, Trizzino L, Turchi C, Turrina S, Vatta P, Vecchiotti C, Verzeletti A, De Stefano F. Fattorini P, et al. Among authors: resta n. Electrophoresis. 2014 Nov;35(21-22):3134-44. doi: 10.1002/elps.201400141. Epub 2014 Oct 31. Electrophoresis. 2014. PMID: 25176610
144 results