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Corrigendum to 'Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes' [Gene Dis (10) (2023), 1187-1189].
Forte G, Cariola F, Buonadonna AL, Guglielmi AF, Manghisi A, De Marco K, Grossi V, Fasano C, Signorile ML, Sanese P, Bagnulo R, Resta N, Disciglio V, Simone C. Forte G, et al. Among authors: resta n. Genes Dis. 2023 Aug 2;11(2):1084. doi: 10.1016/j.gendis.2023.08.002. eCollection 2024 Mar. Genes Dis. 2023. PMID: 37692478 Free PMC article.
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A.
Mastrapasqua M, Rossi R, De Cosmo L, Resta A, Errede M, Bizzoca A, Zampatti S, Resta N, Giardina E, Ruggieri M, Virgintino D, Annese T, Laforgia N, Girolamo F. Mastrapasqua M, et al. Among authors: resta n. Eur J Transl Myol. 2023 Jul 28;33(3):11501. doi: 10.4081/ejtm.2023.11501. Eur J Transl Myol. 2023. PMID: 37522802 Free PMC article.
Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes.
Forte G, Cariola F, Buonadonna AL, Guglielmi AF, Manghisi A, De Marco K, Grossi V, Fasano C, Lepore Signorile M, Sanese P, Bagnulo R, Resta N, Disciglio V, Simone C. Forte G, et al. Among authors: resta n. Genes Dis. 2022 Dec 27;10(4):1187-1189. doi: 10.1016/j.gendis.2022.11.017. eCollection 2023 Jul. Genes Dis. 2022. PMID: 37397536 Free PMC article. No abstract available.
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.
Gazzin A, Leoni C, Viscogliosi G, Borgini F, Perri L, Iacoviello M, Piglionica M, De Pellegrin M, Ferrero GB, Bartuli A, Zampino G, Buonuomo PS, Resta N, Mussa A; Italian Macrodactyly and PROS Association. Gazzin A, et al. Among authors: resta n. Genes (Basel). 2023 Nov 27;14(12):2134. doi: 10.3390/genes14122134. Genes (Basel). 2023. PMID: 38136956 Free PMC article.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Turchiano A, Piglionica M, Martino S, Bagnulo R, Garganese A, De Luisi A, Chirulli S, Iacoviello M, Stasi M, Tabaku O, Meneleo E, Capurso M, Crocetta S, Lattarulo S, Krylovska Y, Lastella P, Forleo C, Stella A, Bukvic N, Simone C, Resta N. Turchiano A, et al. Among authors: resta n. Genes (Basel). 2023 Jul 26;14(8):1530. doi: 10.3390/genes14081530. Genes (Basel). 2023. PMID: 37628581 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.
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M, Piglionica M, Bagnulo R, Cardaropoli S, Carli D, Turchiano A, Coppo P, Pantaleo A, Iacoviello M, Ferrero GB, Mussa A, Resta N. Luca M, et al. Among authors: resta n. Genes Chromosomes Cancer. 2023 Dec;62(12):703-709. doi: 10.1002/gcc.23188. Epub 2023 Jul 3. Genes Chromosomes Cancer. 2023. PMID: 37395289
137 results