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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Free PMC article. Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Frailty and atrial fibrillation: A systematic review.
Villani ER, Tummolo AM, Palmer K, Gravina EM, Vetrano DL, Bernabei R, Onder G, Acampora N. Villani ER, et al. Among authors: tummolo am. Eur J Intern Med. 2018 Oct;56:33-38. doi: 10.1016/j.ejim.2018.04.018. Epub 2018 Jun 21. Eur J Intern Med. 2018. PMID: 29936074
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Di Letto P, Budillon A, Rahman SI, Del Vecchio Blanco F, Zanobio M, Scarpato M, Russo M, Onore ME, Piluso G; TUDP Study Group; Nigro V, Scarano G, Torella A. Di Letto P, et al. Am J Med Genet A. 2025 Jul;197(7):e64039. doi: 10.1002/ajmg.a.64039. Epub 2025 Mar 10. Am J Med Genet A. 2025. PMID: 40062685
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Di Letto P, De Leonibus C, Palmieri FP, Zanobio M, Scarpato M, Cetrangolo V, Rahman SI, Selicorni A, Mariani M, D'Arrigo S, Ciaccio C, Milani D, Ajmone PF, Morleo M, Spampanato C, Piluso G, Zollino M, L'Erario FF, Greco D, Capra V, Scala M, Romano F, Terrone G, De Falco A, Paolella C, Mastrangelo M, Ricciardi G, Brunetti-Pierri N; Telethon Undiagnosed Diseases Program Study Group; Nigro V, Torella A. Di Letto P, et al. Neurol Genet. 2025 Oct 20;11(6):e200312. doi: 10.1212/NXG.0000000000200312. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127311 Free PMC article.
65 results