Guarnieri V - Search Results

1

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.

Fusco C, Copetti M, Mazza T, Amoruso L, Mastroianno S, Nardella G, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: guarnieri v. Hum Mutat. 2019 Nov;40(11):e24-e36. doi: 10.1002/humu.23851. Hum Mutat. 2019. PMID: 31254430

2

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: guarnieri v. J Clin Endocrinol Metab. 2004 Nov;89(11):5634-8. doi: 10.1210/jc.2004-0129. J Clin Endocrinol Metab. 2004. PMID: 15531522

3

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

4

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

5

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: guarnieri v. Neurosurg Focus. 2006 Jul 15;21(1):e9. doi: 10.3171/foc.2006.21.1.10. Neurosurg Focus. 2006. PMID: 16859262

6

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: guarnieri v. 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.

7

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

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. Among authors: guarnieri v. 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

Candidate gene study of HOXB1 in autism spectrum disorder.

Muscarella LA, Guarnieri V, Sacco R, Curatolo P, Manzi B, Alessandrelli R, Giana G, Militerni R, Bravaccio C, Lenti C, Saccani M, Schneider C, Melmed R, D'Agruma L, Persico AM. Muscarella LA, et al. Among authors: guarnieri v. Mol Autism. 2010 May 25;1(1):9. doi: 10.1186/2040-2392-1-9. Mol Autism. 2010. PMID: 20678259 Free PMC article.

10

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. Among authors: guarnieri v. J Biomed Biotechnol. 2010;2010:854737. doi: 10.1155/2010/854737. Epub 2010 Jul 27. J Biomed Biotechnol. 2010. PMID: 20798775 Free PMC article.

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