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Year Number of Results
2006 2
2007 1
2010 1
2011 2
2012 1
2013 1
2014 2
2015 2
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2018 2
2019 2
2020 1
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2022 5
2023 9
2024 1

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Page 1
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: bagnulo r. 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.
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: bagnulo r. Genes (Basel). 2023 Jul 26;14(8):1530. doi: 10.3390/genes14081530. Genes (Basel). 2023. PMID: 37628581 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: bagnulo r. 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.
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: bagnulo r. Genes Chromosomes Cancer. 2023 Dec;62(12):703-709. doi: 10.1002/gcc.23188. Epub 2023 Jul 3. Genes Chromosomes Cancer. 2023. PMID: 37395289
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: bagnulo r. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400
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: bagnulo r. Int J Mol Sci. 2023 Mar 28;24(7):6381. doi: 10.3390/ijms24076381. Int J Mol Sci. 2023. PMID: 37047353 Free PMC article.
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Among authors: bagnulo r. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Mussa A, Turchiano A, Cardaropoli S, Coppo P, Pantaleo A, Bagnulo R, Ranieri C, Iacoviello M, Garganese A, Stella A, Vallero SG, Bertin D, Santoro F, Carli D, Ferrero GB, Resta N. Mussa A, et al. Among authors: bagnulo r. Genes Chromosomes Cancer. 2022 Nov;61(11):689-695. doi: 10.1002/gcc.23086. Epub 2022 Jul 16. Genes Chromosomes Cancer. 2022. PMID: 35778969 Free PMC article.
31 results