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Year Number of Results
2011 2
2012 4
2013 4
2014 3
2015 3
2016 4
2017 7
2018 7
2019 9
2020 8
2021 8
2022 7
2023 7
2024 6

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66 results

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Page 1
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: barresi s. Pathologica. 2022 Dec;114(6):422-435. doi: 10.32074/1591-951X-830. Pathologica. 2022. PMID: 36534421 Free PMC article. Review.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Pres… See abstract for full author list ➔ Bryant L, et al. Among authors: barresi s. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec. Sci Adv. 2020. PMID: 33268356 Free PMC article.
Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations.
Friman V, Quinti I, Davydov AN, Shugay M, Farroni C, Engström E, Pour Akaber S, Barresi S, Mohamed A, Pulvirenti F, Milito C, Granata G, Giorda E, Ahlström S, Karlsson J, Marasco E, Marcellini V, Bocci C, Cascioli S, Scarsella M, Phad G, Tilevik A, Tartaglia M, Bemark M, Chudakov DM, Carsetti R, Grimsholm O. Friman V, et al. Among authors: barresi s. Cell Rep. 2023 May 30;42(5):112446. doi: 10.1016/j.celrep.2023.112446. Epub 2023 Apr 27. Cell Rep. 2023. PMID: 37119135 Free article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: barresi s. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML, Barresi S, Niceta M, Ciolfi A, Trivisano M, Bartuli A, Digilio MC, Specchio N, Dallapiccola B, Tartaglia M. Dentici ML, et al. Among authors: barresi s. Clin Genet. 2019 Apr;95(4):525-531. doi: 10.1111/cge.13516. Epub 2019 Feb 28. Clin Genet. 2019. PMID: 30684285 Review.
Clinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective study.
Miele E, Anghileri E, Calatozzolo C, Lazzarini E, Patrizi S, Ciolfi A, Pedace L, Patanè M, Abballe L, Paterra R, Maddaloni L, Barresi S, Mastronuzzi A, Petruzzi A, Tramacere I, Farinotti M, Gurrieri L, Pirola E, Scarpelli M, Lombardi G, Villani V, Simonelli M, Merli R, Salmaggi A, Tartaglia M, Silvani A, DiMeco F, Calistri D, Lamperti E, Locatelli F, Indraccolo S, Pollo B. Miele E, et al. Among authors: barresi s. Cancer Lett. 2024 Apr 28;588:216711. doi: 10.1016/j.canlet.2024.216711. Epub 2024 Feb 27. Cancer Lett. 2024. PMID: 38423245
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.
POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Among authors: barresi s. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
Intrathoracic synovial sarcoma with BRAF V600E mutation.
Russo I, Barresi S, Di Paolo PL, Di Ruscio V, Del Baldo G, Serra A, Vallese S, Miele E, Mastronuzzi A, Alaggio R, Ferrari A, Milano GM. Russo I, et al. Among authors: barresi s. Oncotarget. 2023 Jul 7;14:703-708. doi: 10.18632/oncotarget.28475. Oncotarget. 2023. PMID: 37417899 Free PMC article.
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M. Barresi S, et al. Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19. Pediatr Neurol. 2020. PMID: 31836334
66 results