Muscarella LA - Search Results

1

Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.

Scillitani A, Guarnieri V, De Geronimo S, Muscarella LA, Battista C, D'Agruma L, Bertoldo F, Florio C, Minisola S, Hendy GN, Cole DE. Scillitani A, et al. Among authors: muscarella la. J Clin Endocrinol Metab. 2004 Nov;89(11):5634-8. doi: 10.1210/jc.2004-0129. J Clin Endocrinol Metab. 2004. PMID: 15531522

2

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. Among authors: muscarella la. Neurosurgery. 2005 Jun;56(6):1215-21; discussion 1221. doi: 10.1227/01.neu.0000159646.15026.d6. Neurosurgery. 2005. PMID: 15918937

3

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. Among authors: muscarella la. 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

4

Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement.

D'Angelo VA, De Bonis C, Amoroso R, Cali A, D'Agruma L, Guarnieri V, Muscarella LA, Zelante L, Bisceglia M, Scarabino T, Catapano D. D'Angelo VA, et al. Among authors: muscarella la. Neurosurg Focus. 2006 Jul 15;21(1):e9. doi: 10.3171/foc.2006.21.1.10. Neurosurg Focus. 2006. PMID: 16859262

5

Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor.

Scillitani A, Guarnieri V, Battista C, De Geronimo S, Muscarella LA, Chiodini I, Cignarelli M, Minisola S, Bertoldo F, Francucci CM, Malavolta N, Piovesan A, Mascia ML, Muscarella S, Hendy GN, D'Agruma L, Cole DE. Scillitani A, et al. Among authors: muscarella la, muscarella s. J Clin Endocrinol Metab. 2007 Jan;92(1):277-83. doi: 10.1210/jc.2006-0857. Epub 2006 Oct 3. J Clin Endocrinol Metab. 2007. PMID: 17018660 Free article.

6

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. Among authors: muscarella la. Neurogenetics. 2007 Jan;8(1):29-37. doi: 10.1007/s10048-006-0056-y. Epub 2006 Oct 17. Neurogenetics. 2007. PMID: 17043900

7

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

Muscarella LA, Piemontese MR, Barbano R, Fazio A, Guarnieri V, Quattrone A, Zelante L. Muscarella LA, et al. Biomol Eng. 2007 Jun;24(2):231-6. doi: 10.1016/j.bioeng.2006.10.003. Epub 2006 Nov 7. Biomol Eng. 2007. PMID: 17145200

8

HOXA1 gene variants influence head growth rates in humans.

Muscarella LA, Guarnieri V, Sacco R, Militerni R, Bravaccio C, Trillo S, Schneider C, Melmed R, Elia M, Mascia ML, Rucci E, Piemontese MR, D'Agruma L, Persico AM. Muscarella LA, et al. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):388-90. doi: 10.1002/ajmg.b.30469. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17171652

9

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

10

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. Among authors: muscarella la. J Biomed Biotechnol. 2009;2009:860761. doi: 10.1155/2009/860761. Epub 2010 Jan 21. J Biomed Biotechnol. 2009. PMID: 20145706 Free PMC article.

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