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Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
Agazzi C, Magliozzi M, Iacoviello O, Palladino S, Delvecchio M, Masciopinto M, Galati A, Novelli A, Causio FA, Zampino G, Ruggiero C, Fischetto R. Agazzi C, et al. Among authors: magliozzi m. Mol Syndromol. 2023 Apr;14(2):158-163. doi: 10.1159/000527424. Epub 2022 Dec 23. Mol Syndromol. 2023. PMID: 37064340 Free PMC article.
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.
Guarini A, Marinelli M, Tavolaro S, Bellacchio E, Magliozzi M, Chiaretti S, De Propris MS, Peragine N, Santangelo S, Paoloni F, Nanni M, Del Giudice I, Mauro FR, Torrente I, Foà R. Guarini A, et al. Among authors: magliozzi m. Haematologica. 2012 Jan;97(1):47-55. doi: 10.3324/haematol.2011.049270. Epub 2011 Oct 11. Haematologica. 2012. PMID: 21993670 Free PMC article.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Delle Vigne S, Sorge G, Karaer K, Cuturilo G, Sartorio A, Tinschert S, Accadia M, Digilio MC, Zampino G, De Luca A, Cavé H, Zenker M, Gelb BD, Dallapiccola B, Stella L, Ferrero GB, Martinelli S, Tartaglia M. Pannone L, et al. Among authors: magliozzi m. Hum Mutat. 2017 Apr;38(4):451-459. doi: 10.1002/humu.23175. Epub 2017 Feb 7. Hum Mutat. 2017. PMID: 28074573
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: magliozzi m. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
Kortüm F, Niceta M, Magliozzi M, Dumic Kubat K, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K. Kortüm F, et al. Among authors: magliozzi m. Eur J Med Genet. 2020 Sep;63(9):103996. doi: 10.1016/j.ejmg.2020.103996. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622958
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P. Tedesco MG, et al. Among authors: magliozzi m. Am J Med Genet A. 2021 Apr;185(4):1204-1210. doi: 10.1002/ajmg.a.62068. Epub 2021 Jan 14. Am J Med Genet A. 2021. PMID: 33442900
32 results