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SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome.
Fiorentini E, Giunti L, Di Rita A, Peraio S, Fonte C, Caporalini C, Buccoliero AM, Censullo ML, Gori G, Noris A, Pasquariello R, Battini R, Pavone R, Giordano F, Giglio S, Rinaldi B. Fiorentini E, et al. Among authors: buccoliero am. Eur J Med Genet. 2023 Jul;66(7):104784. doi: 10.1016/j.ejmg.2023.104784. Epub 2023 May 8. Eur J Med Genet. 2023. PMID: 37164167 Free article.
Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients.
Pegoraro F, Mazzariol M, Trambusti I, Bakhshi S, Mallick S, Dunkel IJ, van den Bos C, Tezol Ö, Shan S, Ocak S, Giordano F, De Fusco C, Gaspari S, Buccoliero AM, Coniglio ML, Buti E, Romagnani P, Picarsic J, Donadieu J, Diamond EL, Emile JF, Sieni E, Haroche J, Vaglio A. Pegoraro F, et al. Among authors: buccoliero am. Blood. 2023 Sep 28;142(13):1167-1171. doi: 10.1182/blood.2023020569. Blood. 2023. PMID: 37490651 Free PMC article.
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
Anti-slit diaphragm antibodies on kidney biopsy identify pediatric patients with steroid-resistant nephrotic syndrome responsive to second-line immunosuppressants.
Raglianti V, Angelotti ML, Cirillo L, Ravaglia F, Landini S, Palazzo V, Melica ME, Antonelli G, Conte C, Buti E, Errichiello C, De Chiara L, Peired AJ, Lasagni L, Buccoliero AM, Allinovi M, Montero AM, Cruzado JM, Bruschi M, Ghiggeri GM, Angeletti A, Anders HJ, Lazzeri E, Mazzinghi B, Becherucci F, Romagnani P. Raglianti V, et al. Among authors: buccoliero am. Kidney Int. 2024 Dec;106(6):1124-1134. doi: 10.1016/j.kint.2024.09.006. Epub 2024 Oct 3. Kidney Int. 2024. PMID: 39368741 Free article.
192 results