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21 results

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Page 1
Frequent NRG1 fusions in Caucasian pulmonary mucinous adenocarcinoma predicted by Phospho-ErbB3 expression.
Trombetta D, Graziano P, Scarpa A, Sparaneo A, Rossi G, Rossi A, Di Maio M, Antonello D, Mafficini A, Fabrizio FP, Manzorra MC, Balsamo T, Centra F, Simbolo M, Pantalone A, Notarangelo M, Parente P, Lucia Dimitri MC, Bonfitto A, Fiordelisi F, Storlazzi CT, L'Abbate A, Taurchini M, Maiello E, Fazio VM, Muscarella LA. Trombetta D, et al. Among authors: bonfitto a. Oncotarget. 2018 Jan 3;9(11):9661-9671. doi: 10.18632/oncotarget.23800. eCollection 2018 Feb 9. Oncotarget. 2018. PMID: 29515761 Free PMC article.
Effects of KEAP1 Silencing on the Regulation of NRF2 Activity in Neuroendocrine Lung Tumors.
Sparaneo A, Fabrizio FP, la Torre A, Graziano P, Di Maio M, Fontana A, Bisceglia M, Rossi A, Pizzolitto S, De Maglio G, Tancredi A, Grimaldi F, Balsamo T, Centra F, Manzorra MC, Trombetta D, Pantalone A, Bonfitto A, Maiello E, Fazio VM, Muscarella LA. Sparaneo A, et al. Among authors: bonfitto a. Int J Mol Sci. 2019 May 23;20(10):2531. doi: 10.3390/ijms20102531. Int J Mol Sci. 2019. PMID: 31126053 Free PMC article.
Automated Workflow for Somatic and Germline Next Generation Sequencing Analysis in Routine Clinical Cancer Diagnostics.
Muscarella LA, Fabrizio FP, De Bonis M, Mancini MT, Balsamo T, Graziano P, Centra F, Sparaneo A, Trombetta D, Bonfitto A, Scagliusi V, Larizza P, Capoluongo ED, Fazio VM. Muscarella LA, et al. Among authors: bonfitto a. Cancers (Basel). 2019 Oct 30;11(11):1691. doi: 10.3390/cancers11111691. Cancers (Basel). 2019. PMID: 31671666 Free PMC article.
Impact of Pre-Analytical Factors on MSI Test Accuracy in Mucinous Colorectal Adenocarcinoma: A Multi-Assay Concordance Study.
Malapelle U, Parente P, Pepe F, De Luca C, Cerino P, Covelli C, Balestrieri M, Russo G, Bonfitto A, Pisapia P, Fiordelisi F, D'Armiento M, Bruzzese D, Loupakis F, Pietrantonio F, Triassi M, Fassan M, Troncone G, Graziano P. Malapelle U, et al. Among authors: bonfitto a. Cells. 2020 Sep 2;9(9):2019. doi: 10.3390/cells9092019. Cells. 2020. PMID: 32887373 Free PMC article.
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Jepsen WM, et al. Among authors: bonfitto a. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. Int J Mol Sci. 2024. PMID: 39595988 Free PMC article.
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, Hassett K, Jepsen WM, Sankaramoorthy A, Stewart TM, Foley JR, Rangasamy S, Huentelman MJ, Narayanan V, Ramsey K. Leung M, et al. Among authors: bonfitto a. Rare. 2024;2:100017. doi: 10.1016/j.rare.2023.100017. Epub 2023 Dec 13. Rare. 2024. PMID: 38770537 Free PMC article.
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Among authors: bonfitto a. Clin Genet. 2024 Jul;106(1):114-115. doi: 10.1111/cge.14542. Epub 2024 May 8. Clin Genet. 2024. PMID: 38715525
21 results