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Year Number of Results
2020 1
2021 2
2022 3
2023 10
2024 0

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15 results

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Page 1
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Among authors: pantaleo a. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
SMYD3 Modulates the HGF/MET Signaling Pathway in Gastric Cancer.
De Marco K, Lepore Signorile M, Di Nicola E, Sanese P, Fasano C, Forte G, Disciglio V, Pantaleo A, Varchi G, Del Rio A, Grossi V, Simone C. De Marco K, et al. Among authors: pantaleo a. Cells. 2023 Oct 18;12(20):2481. doi: 10.3390/cells12202481. Cells. 2023. PMID: 37887325 Free PMC article.
SMYD3 Modulates AMPK-mTOR Signaling Balance in Cancer Cell Response to DNA Damage.
Lepore Signorile M, Sanese P, Di Nicola E, Fasano C, Forte G, De Marco K, Disciglio V, Latrofa M, Pantaleo A, Varchi G, Del Rio A, Grossi V, Simone C. Lepore Signorile M, et al. Among authors: pantaleo a. Cells. 2023 Nov 17;12(22):2644. doi: 10.3390/cells12222644. Cells. 2023. PMID: 37998381 Free PMC article.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: pantaleo a. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
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: pantaleo a. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N. Turchiano A, et al. Among authors: pantaleo a. Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365. Cancers (Basel). 2022. PMID: 35053526 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: pantaleo a. 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.
15 results