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Page 1
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G, Ferrigno F, Franceschini A, Dentici ML, Capolino R, Sinibaldi L, Minotti C, Micalizzi A, Alesi V, Novelli A, Baban A, Parlapiano G, Coviello D, Versacci P, Putotto C, Chinali M, Drago F, Bartuli A, Marino B, Digilio MC. Calcagni G, et al. Among authors: alesi v. Diagnostics (Basel). 2024 Mar 11;14(6):594. doi: 10.3390/diagnostics14060594. Diagnostics (Basel). 2024. PMID: 38535015 Free PMC article.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Among authors: alesi v. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 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: alesi v. Mod Pathol. 2024 Feb;37(2):100387. doi: 10.1016/j.modpat.2023.100387. Epub 2023 Nov 23. Mod Pathol. 2024. PMID: 38007157
A non-hemispheric transtentorial ZFTA fusion-positive ependymoma in a 6-month-old boy.
Cardoni A, Barresi S, Piccirilli E, Alesi V, Miele E, Giovannoni I, Genovese S, Del Baldo G, Diomedi-Camassei F, Antonelli M, Giangaspero F, Puggioni C, Carai A, Colafati GS, Mastronuzzi A, Gessi M, Alaggio R, Rossi S. Cardoni A, et al. Among authors: alesi v. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12886. doi: 10.1111/nan.12886. Neuropathol Appl Neurobiol. 2023. PMID: 36709981 No abstract available.
Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO Classification.
Gianno F, Giovannoni I, Cafferata B, Diomedi-Camassei F, Minasi S, Barresi S, Buttarelli FR, Alesi V, Cardoni A, Antonelli M, Puggioni C, Colafati GS, Carai A, Vinci M, Mastronuzzi A, Miele E, Alaggio R, Giangaspero F, Rossi S. Gianno F, et al. Among authors: alesi v. Pathologica. 2022 Dec;114(6):422-435. doi: 10.32074/1591-951X-830. Pathologica. 2022. PMID: 36534421 Free PMC article. Review.
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: alesi v. Int J Mol Sci. 2022 Oct 26;23(21):12900. doi: 10.3390/ijms232112900. Int J Mol Sci. 2022. PMID: 36361691 Free PMC article.
66 results