Villani GR - Search Results

1

Extraneurologic symptoms as presenting signs of Sanfilippo disease.

Barone R, Fiumara A, Villani GR, Di Natale P, Pavone L. Barone R, et al. Among authors: villani gr. Pediatr Neurol. 2001 Sep;25(3):254-7. doi: 10.1016/s0887-8994(01)00305-8. Pediatr Neurol. 2001. PMID: 11587884

2

Analysis of Sanfilippo A gene mutations in a large pedigree.

Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A. Di Natale P, et al. Among authors: villani gr. Clin Genet. 2003 Apr;63(4):314-8. doi: 10.1034/j.1399-0004.2003.00053.x. Clin Genet. 2003. PMID: 12702166

3

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P. Gabrielli O, et al. Among authors: villani gr. Am J Med Genet A. 2005 Feb 15;133A(1):85-9. doi: 10.1002/ajmg.a.30552. Am J Med Genet A. 2005. PMID: 15637719

4

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Di Natale P, Balzano N, Esposito S, Villani GR. Di Natale P, et al. Among authors: villani gr. Hum Mutat. 1998;11(4):313-20. doi: 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P. Hum Mutat. 1998. PMID: 9554748

5

Bone marrow transplantation in a Hunter patient with P266H mutation.

Coppa GV, Gabrielli O, Cordiali R, Villani GR, Di Natale P. Coppa GV, et al. Among authors: villani gr. Int J Mol Med. 1999 Oct;4(4):433-6. doi: 10.3892/ijmm.4.4.433. Int J Mol Med. 1999. PMID: 10493987

6

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Tessitore A, Villani GR, Di Domenico C, Filocamo M, Gatti R, Di Natale P. Tessitore A, et al. Among authors: villani gr. Hum Genet. 2000 Dec;107(6):568-76. doi: 10.1007/s004390000429. Hum Genet. 2000. PMID: 11153910

7

Gene symbol: NAGLU. Disease: Sanfillipo syndrome B.

Villani GR, Pontarelli G, Vitale D, Di Natale P. Villani GR, et al. Hum Genet. 2004 Jul;115(2):173. Hum Genet. 2004. PMID: 15300983 No abstract available.

8

Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.

Di Natale P, Pontarelli G, Villani GR, Di Domenico C. Di Natale P, et al. Among authors: villani gr. Hum Genet. 2006 Jul;119(6):679. Hum Genet. 2006. PMID: 17128482 No abstract available.

9

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.

Villani GR, Balzano N, Di Natale P. Villani GR, et al. Hum Mutat. 1998;11(5):410. doi: 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q. Hum Mutat. 1998. PMID: 10206678

10

Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.

Balzano N, Villani GR, Grosso M, Izzo P, Di Natale P. Balzano N, et al. Among authors: villani gr. Hum Mutat. 1998;11(4):333. doi: 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G. Hum Mutat. 1998. PMID: 10215411

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

51 results

Search Page

Filters