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96 results

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Page 1
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M. Niceta M, et al. Among authors: barresi s. Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3. Clin Genet. 2020. PMID: 31600839
Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal Tumors.
Vallese S, Barresi S, Hiemcke-Jiwa L, Patrizi S, Kester L, Giovannoni I, Cardoni A, Pedace L, Nardini C, Tancredi C, Desideri M, von Deimling A, Mura RM, Piga M, Errico ME, Stracuzzi A, Alaggio R, Miele E, Flucke U. Vallese S, et al. Among authors: barresi s. Mod Pathol. 2024 Sep;37(9):100539. doi: 10.1016/j.modpat.2024.100539. Epub 2024 Jun 14. Mod Pathol. 2024. PMID: 38880352
Intracranial mesenchymal tumor with (novel) COX14::PTEN rearrangement.
d'Amati A, Gianno F, Scuccimarri L, Lastilla M, Messina R, Signorelli F, Zimatore DS, Barresi S, Miele E, Alaggio R, Rossi S, Maiorano E, Ingravallo G, Giangaspero F, Antonelli M. d'Amati A, et al. Among authors: barresi s. Acta Neuropathol Commun. 2023 Jun 13;11(1):95. doi: 10.1186/s40478-023-01596-9. Acta Neuropathol Commun. 2023. PMID: 37312212 Free PMC article.
A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma.
De Leonardis F, Greco Miani V, Vallese S, Barresi S, Marulli G, Novielli C, Dall'Igna P, Maruccia M, Santoro N. De Leonardis F, et al. Among authors: barresi s. J Pediatr Hematol Oncol. 2024 Jul 1;46(5):e322-e326. doi: 10.1097/MPH.0000000000002884. Epub 2024 May 21. J Pediatr Hematol Oncol. 2024. PMID: 38775398
NTRK3-EML4-rearranged spindle cell tumor with co-expression of S100 and CD34: an unusual mesenchymal tumor in the spectrum of the bland-looking spindle cell lesions of the oral cavity.
Broggi G, Attanasio G, Bonanno A, La Mantia I, Barresi S, Alaggio R, Magro G. Broggi G, et al. Among authors: barresi s. Oral Surg Oral Med Oral Pathol Oral Radiol. 2024 Nov;138(5):635-640. doi: 10.1016/j.oooo.2024.05.010. Epub 2024 May 28. Oral Surg Oral Med Oral Pathol Oral Radiol. 2024. PMID: 38926044 Free article.
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: barresi s. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.
96 results