Di Natale P - Search Results

1

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. 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

2

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.

Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, Hopwood JJ, Di Natale P. Esposito S, et al. Among authors: di natale p. Biochim Biophys Acta. 2000 Apr 15;1501(1):1-11. doi: 10.1016/s0925-4439(99)00118-0. Biochim Biophys Acta. 2000. PMID: 10727844 Free article.

3

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: di domenico c, di natale p. Hum Genet. 2000 Dec;107(6):568-76. doi: 10.1007/s004390000429. Hum Genet. 2000. PMID: 11153910

4

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: di domenico c. Clin Genet. 2003 Apr;63(4):314-8. doi: 10.1034/j.1399-0004.2003.00053.x. Clin Genet. 2003. PMID: 12702166

5

Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.

Villani GR, Balzano N, Grosso M, Salvatore F, Izzo P, Di Natale P. Villani GR, et al. Among authors: di natale p. Hum Mutat. 1997;10(1):71-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<71::AID-HUMU10>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9222763 No abstract available.

6

Maroteaux-lamy syndrome: five novel mutations and their structural localization.

Villani GR, Balzano N, Vitale D, Saviano M, Pavone V, Di Natale P. Villani GR, et al. Among authors: di natale p. Biochim Biophys Acta. 1999 Feb 24;1453(2):185-92. doi: 10.1016/s0925-4439(98)00099-4. Biochim Biophys Acta. 1999. PMID: 10036316 Free article.

7

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. Among authors: di natale p. 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

8

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: di natale p. 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

9

Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.

Grosso M, Balzano N, Rippa E, Villani GR, Salvatore F, Izzo P, di Natale P. Grosso M, et al. Among authors: di natale p. Biochem Mol Biol Int. 1995 May;35(6):1261-7. Biochem Mol Biol Int. 1995. PMID: 7492964

10

Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.

Di Domenico C, Villani GR, Di Napoli D, Reyero EG, Lombardo A, Naldini L, Di Natale P. Di Domenico C, et al. Among authors: di napoli d, di natale p. Hum Gene Ther. 2005 Jan;16(1):81-90. doi: 10.1089/hum.2005.16.81. Hum Gene Ther. 2005. PMID: 15703491

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

101 results

Search Page

Filters