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The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.
Gaggiano C, Vitale A, Tufan A, Ragab G, Aragona E, Wiesik-Szewczyk E, Ait-Idir D, Conti G, Iezzi L, Maggio MC, Cattalini M, Torre F, Lopalco G, Verrecchia E, de Paulis A, Sahin A, Insalaco A, Sfikakis PP, Marino A, Frassi M, Ogunjimi B, Opris-Belinski D, Parronchi P, Emmi G, Shahram F, Ciccia F, Piga M, Hernández-Rodríguez J, Pereira RMR, Alessio M, Naddei R, Olivieri AN, Giudice ED, Sfriso P, Ruscitti P, Gobbi FL, Kucuk H, Sota J, Hussein MA, Malizia G, Jahnz-Różyk K, Sari-Hamidou R, Romeo M, Ricci F, Cardinale F, Iannone F, Casa FD, Natale MF, Laskari K, Giani T, Franceschini F, Sabato V, Yildirim D, Caggiano V, Hegazy MT, Marzo RD, Kucharczyk A, Khellaf G, Tarsia M, Almaghlouth IA, Laymouna AH, Mastrorilli V, Dotta L, Benacquista L, Grosso S, Crisafulli F, Parretti V, Giordano HF, Mahmoud AAA, Nuzzolese R, Musso M, Chighizola CB, Gentileschi S, Morrone M, Cola ID, Spedicato V, Giardini HAM, Vasi I, Renieri A, Fabbiani A, Mencarelli MA, Frediani B, Balistreri A, Tosi GM, Fabiani C, Lidar M, Rigante D, Cantarini L. Gaggiano C, et al. Among authors: mencarelli ma. Front Med (Lausanne). 2022 Sep 9;9:980679. doi: 10.3389/fmed.2022.980679. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36160138 Free PMC article.
CKAP2L mutation confirms the diagnosis of Filippi syndrome.
Capecchi G, Baldassarri M, Ferranti S, Guidoni E, Cioni M, Nürnberg P, Mencarelli MA, Renieri A, Grosso S. Capecchi G, et al. Among authors: mencarelli ma. Clin Genet. 2018 May;93(5):1109-1110. doi: 10.1111/cge.13188. Epub 2018 Feb 23. Clin Genet. 2018. PMID: 29473684 No abstract available.
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients.
Palmieri M, Baldassarri M, Fava F, Fabbiani A, Gelli E, Tita R, Torre P, Petrioli R, Hadijstilianou T, Galimberti D, Cinotti E, Bengala C, Mandalà M, Piu P, Miano ST, Martellucci I, Vannini A, Pinto AM, Mencarelli MA, Marsili S, Renieri A, Frullanti E. Palmieri M, et al. Among authors: mencarelli ma. Cancer Med. 2020 Mar;9(6):2052-2061. doi: 10.1002/cam4.2782. Epub 2020 Jan 28. Cancer Med. 2020. PMID: 31991072 Free PMC article.
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.
Gaggiano C, Vitale A, Obici L, Merlini G, Soriano A, Viapiana O, Cattalini M, Maggio MC, Lopalco G, Montin D, Jaber MA, Dagna L, Manna R, Insalaco A, Piga M, La Torre F, Berlengiero V, Gelardi V, Ciarcia L, Emmi G, Ruscitti P, Caso F, Cimaz R, Hernández-Rodríguez J, Parronchi P, Sicignano LL, Verrecchia E, Iannone F, Sota J, Grosso S, Salvarani C, Frediani B, Giacomelli R, Mencarelli MA, Renieri A, Rigante D, Cantarini L. Gaggiano C, et al. Among authors: mencarelli ma. Mediators Inflamm. 2020 Aug 7;2020:8562485. doi: 10.1155/2020/8562485. eCollection 2020. Mediators Inflamm. 2020. PMID: 32831641 Free PMC article.
120 results