D'Agruma L - Search Results

1

VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

Micale L, Muscarella LA, Marzulli M, Augello B, Tritto P, D'Agruma L, Zelante L, Palumbo G, Merla G. Micale L, et al. J Biomed Biotechnol. 2009;2009:860761. doi: 10.1155/2009/860761. Epub 2010 Jan 21. J Biomed Biotechnol. 2009. PMID: 20145706 Free PMC article.

2

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.

Muscarella LA, Barbano R, Augello B, Formica V, Micale L, Zelante L, D'Agruma L, Merla G. Muscarella LA, et al. J Hum Genet. 2007;52(6):485-491. doi: 10.1007/s10038-007-0138-1. Epub 2007 Apr 17. J Hum Genet. 2007. PMID: 17437055

3

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR.

Muscarella LA, Guarnieri V, Coco M, Belli S, Parrella P, Pulcrano G, Catapano D, D'Angelo VA, Zelante L, D'Agruma L. Muscarella LA, et al. J Biomed Biotechnol. 2010;2010:854737. doi: 10.1155/2010/854737. Epub 2010 Jul 27. J Biomed Biotechnol. 2010. PMID: 20798775 Free PMC article.

4

Hemangioblastomas of central nervous system: molecular genetic analysis and clinical management.

Catapano D, Muscarella LA, Guarnieri V, Zelante L, D'Angelo VA, D'Agruma L. Catapano D, et al. Neurosurgery. 2005 Jun;56(6):1215-21; discussion 1221. doi: 10.1227/01.neu.0000159646.15026.d6. Neurosurgery. 2005. PMID: 15918937

5

VHL gene alterations in Italian patients with isolated renal cell carcinomas.

Muscarella LA, D'Agruma L, la Torre A, Gigante M, Coco M, Parrella P, Battaglia M, Carrieri G, Carella M, Zelante L, Fazio VM, Gesualdo L, Ranieri E. Muscarella LA, et al. Int J Biol Markers. 2013 Jun 28;28(2):208-15. doi: 10.5301/jbm.5000011. Int J Biol Markers. 2013. PMID: 23558940 Free article.

6

Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.

Muscarella LA, la Torre A, Faienza A, Catapano D, Bisceglia M, D'Angelo V, Parrella P, Coco M, Fini G, Tancredi A, Zelante L, Fazio VM, D'Agruma L. Muscarella LA, et al. J Neuropathol Exp Neurol. 2014 Jan;73(1):50-8. doi: 10.1097/NEN.0000000000000024. J Neuropathol Exp Neurol. 2014. PMID: 24335534

7

Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance.

Guarnieri V, Scillitani A, Muscarella LA, Battista C, Bonfitto N, Bisceglia M, Minisola S, Mascia ML, D'Agruma L, Cole DE. Guarnieri V, et al. J Clin Endocrinol Metab. 2006 Aug;91(8):2827-32. doi: 10.1210/jc.2005-1239. Epub 2006 May 23. J Clin Endocrinol Metab. 2006. PMID: 16720667

8

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

Guarnieri V, Muscarella LA, Amoroso R, Quattrone A, Abate ME, Coco M, Catapano D, D'Angelo VA, Zelante L, D'Agruma L. Guarnieri V, et al. Neurogenetics. 2007 Jan;8(1):29-37. doi: 10.1007/s10048-006-0056-y. Epub 2006 Oct 17. Neurogenetics. 2007. PMID: 17043900

9

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. PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013. PLoS One. 2013. PMID: 24340015 Free PMC article.

10

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V, Battista C, Muscarella LA, Bisceglia M, de Martino D, Baorda F, Maiello E, D'Agruma L, Chiodini I, Clemente C, Minisola S, Romagnoli E, Corbetta S, Viti R, Eller-Vainicher C, Spada A, Iacobellis M, Malavolta N, Carella M, Canaff L, Hendy GN, Cole DE, Scillitani A. Guarnieri V, et al. Cell Oncol (Dordr). 2012 Dec;35(6):411-22. doi: 10.1007/s13402-012-0100-x. Epub 2012 Sep 18. Cell Oncol (Dordr). 2012. PMID: 22987117

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