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Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma.
De Filpo G, Contini E, Serio V, Valeri A, Chetta M, Guasti D, Bani D, Mannelli M, Rapizzi E, Luconi M, Maggi M, Ercolino T, Canu L. De Filpo G, et al. Among authors: chetta m. Int J Endocrinol. 2020 May 30;2020:3671396. doi: 10.1155/2020/3671396. eCollection 2020. Int J Endocrinol. 2020. PMID: 32565791 Free PMC article.
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.
Provenzano A, Chetta M, De Filpo G, Cantini G, La Barbera A, Nesi G, Santi R, Martinelli S, Rapizzi E, Luconi M, Maggi M, Mannelli M, Ercolino T, Canu L. Provenzano A, et al. Among authors: chetta m. Medicina (Kaunas). 2022 Aug 17;58(8):1113. doi: 10.3390/medicina58081113. Medicina (Kaunas). 2022. PMID: 36013579 Free PMC article.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: chetta m. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Piccoli C, Scrima R, D'Aprile A, Chetta M, Cela O, Pacelli C, Ripoli M, D'Andrea G, Margaglione M, Bukvic N, Capitanio N. Piccoli C, et al. Among authors: chetta m. Genes (Basel). 2021 Aug 24;12(9):1295. doi: 10.3390/genes12091295. Genes (Basel). 2021. PMID: 34573276 Free PMC article.
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L. Ciavarella M, et al. Among authors: chetta m. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V. Pazienza V, et al. Among authors: chetta m. PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013. PLoS One. 2013. PMID: 24340015 Free PMC article.
67 results