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Page 1
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.
Carta R, Del Baldo G, Miele E, Po A, Besharat ZM, Nazio F, Colafati GS, Piccirilli E, Agolini E, Rinelli M, Lodi M, Cacchione A, Carai A, Boccuto L, Ferretti E, Locatelli F, Mastronuzzi A. Carta R, et al. Among authors: agolini e. Front Oncol. 2020 Oct 29;10:566822. doi: 10.3389/fonc.2020.566822. eCollection 2020. Front Oncol. 2020. PMID: 33194646 Free PMC article. Review.
Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.
Boni A, Ranalli M, Del Baldo G, Carta R, Lodi M, Agolini E, Rinelli M, Valentini D, Rossi S, Alesi V, Cacchione A, Miele E, Alessi I, Caroleo AM, Colafati GS, De Ioris MA, Boccuto L, Balducci M, Carai A, Mastronuzzi A. Boni A, et al. Among authors: agolini e. Diagnostics (Basel). 2021 Feb 7;11(2):254. doi: 10.3390/diagnostics11020254. Diagnostics (Basel). 2021. PMID: 33562188 Free PMC article.
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A. Agolini E, et al. Clin Genet. 2021 Jun;99(6):842-848. doi: 10.1111/cge.13957. Epub 2021 Apr 5. Clin Genet. 2021. PMID: 33733458
Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.
Ranalli M, Boni A, Caroleo AM, Del Baldo G, Rinelli M, Agolini E, Rossi S, Miele E, Colafati GS, Boccuto L, Alessi I, De Ioris MA, Cacchione A, Capolino R, Carai A, Vennarini S, Mastronuzzi A. Ranalli M, et al. Among authors: agolini e. Diagnostics (Basel). 2021 Apr 2;11(4):647. doi: 10.3390/diagnostics11040647. Diagnostics (Basel). 2021. PMID: 33918520 Free PMC article.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Paparella R, Caroleo AM, Agolini E, Chillemi G, Miele E, Pedace L, Rinelli M, Pizzi S, Boccuto L, Colafati GS, Lodi M, Cacchione A, Carai A, Digilio MC, Tomà P, Tartaglia M, Mastronuzzi A. Paparella R, et al. Among authors: agolini e. Am J Med Genet A. 2022 Sep;188(9):2796-2802. doi: 10.1002/ajmg.a.62869. Epub 2022 Jun 11. Am J Med Genet A. 2022. PMID: 35689525 Free PMC article.
BRAF V600E Inhibitor (Vemurafenib) for BRAF V600E Mutated Low Grade Gliomas.
Del Bufalo F, Ceglie G, Cacchione A, Alessi I, Colafati GS, Carai A, Diomedi-Camassei F, De Billy E, Agolini E, Mastronuzzi A, Locatelli F. Del Bufalo F, et al. Among authors: agolini e. Front Oncol. 2018 Nov 14;8:526. doi: 10.3389/fonc.2018.00526. eCollection 2018. Front Oncol. 2018. PMID: 30488019 Free PMC article.
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: agolini e. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626
Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome.
Petruzzellis G, Valentini D, Del Bufalo F, Ceglie G, Carai A, Colafati GS, Agolini E, Diomedi-Camassei F, Corsetti T, Alessi I, Mastronuzzi A, Locatelli F, Cacchione A. Petruzzellis G, et al. Among authors: agolini e. Front Oncol. 2019 Apr 12;9:277. doi: 10.3389/fonc.2019.00277. eCollection 2019. Front Oncol. 2019. PMID: 31032231 Free PMC article.
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Lodi M, Boccuto L, Carai A, Cacchione A, Miele E, Colafati GS, Diomedi Camassei F, De Palma L, De Benedictis A, Ferretti E, Catanzaro G, Pò A, De Luca A, Rinelli M, Lepri FR, Agolini E, Tartaglia M, Locatelli F, Mastronuzzi A. Lodi M, et al. Among authors: agolini e. Diagnostics (Basel). 2020 Aug 12;10(8):582. doi: 10.3390/diagnostics10080582. Diagnostics (Basel). 2020. PMID: 32806529 Free PMC article.
122 results