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Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
Biomolecules. 2023 Apr 23;13(5):725. doi: 10.3390/biom13050725.
Biomolecules. 2023.
PMID: 37238595
Free PMC article.
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases.
Rossi S, Barresi S, Colafati GS, Genovese S, Tancredi C, Costabile V, Patrizi S, Giovannoni I, Asioli S, Poliani PL, Gardiman MP, Cardoni A, Del Baldo G, Antonelli M, Gianno F, Piccirilli E, Catino G, Martucci L, Quacquarini D, Toni F, Melchionda F, Viscardi E, Zucchelli M, Dal Pos S, Gatti E, Liserre R, Schiavello E, Diomedi-Camassei F, Carai A, Mastronuzzi A, Gessi M, Giannini C, Novelli A, Onetti Muda A, Miele E, Alesi V, Alaggio R.
Rossi S, et al. Among authors: martucci l.
Mod Pathol. 2024 Feb;37(2):100387. doi: 10.1016/j.modpat.2023.100387. Epub 2023 Nov 23.
Mod Pathol. 2024.
PMID: 38007157
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Orlando V, Di Tommaso S, Alesi V, Loddo S, Genovese S, Catino G, Martucci L, Roberti MC, Trivisano M, Dentici ML, Specchio N, Dallapiccola B, Ferretti A, Novelli A.
Orlando V, et al. Among authors: martucci l.
Int J Mol Sci. 2022 Oct 26;23(21):12900. doi: 10.3390/ijms232112900.
Int J Mol Sci. 2022.
PMID: 36361691
Free PMC article.
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