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2020 1
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2022 3
2023 2
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Page 1
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
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.
Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A. Patruno M, et al. Among authors: pantaleo a. Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714. Cancers (Basel). 2021. PMID: 34572941 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: pantaleo a. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: pantaleo a. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.