Zelante L - Search Results

1

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Veniani E, Mauri L, Manfredini E, Gesu GP, Patrosso MC, Zelante L, D'Agruma L, Del Longo A, Mazza M, Piozzi E, Penco S, Primignani P. Veniani E, et al. Among authors: zelante l. J Dermatol Sci. 2016 Mar;81(3):208-9. doi: 10.1016/j.jdermsci.2015.11.012. Epub 2015 Nov 28. J Dermatol Sci. 2016. PMID: 26686029 No abstract available.

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

3

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: zelante l. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345

4

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. Palumbo O, et al. Among authors: zelante l. Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31. Gene. 2013. PMID: 23287644

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. Among authors: zelante l. 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

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

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

8

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. Among authors: zelante l. 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

9

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: zelante l. J Biomed Biotechnol. 2010;2010:854737. doi: 10.1155/2010/854737. Epub 2010 Jul 27. J Biomed Biotechnol. 2010. PMID: 20798775 Free PMC article.

10

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.

Gasparini P, D'Agruma L, Pio de Cillis G, Balestrazzi P, Mingarelli R, Zelante L. Gasparini P, et al. Among authors: zelante l. Hum Genet. 1996 Apr;97(4):492-5. doi: 10.1007/BF02267073. Hum Genet. 1996. PMID: 8834249

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