Balzano N - 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. Among authors: balzano n. 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

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: balzano n. Biochem Mol Biol Int. 1995 May;35(6):1261-7. Biochem Mol Biol Int. 1995. PMID: 7492964

3

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: balzano n. 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.

4

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: balzano n. 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.

5

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: balzano n. 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

6

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. 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

7

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: balzano n. 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.

8

[Mutation analysis in Hunter patients].

Villani GR, Balzano N, Grosso M, Di Natale P. Villani GR, et al. Among authors: balzano n. Pediatr Med Chir. 1996 Jan-Feb;18(1):71-83. Pediatr Med Chir. 1996. PMID: 8685029 Review. Italian.

9

[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis].

Balzano N, Villani GR, Coppa G, Di Natale P. Balzano N, et al. Pediatr Med Chir. 1996 Jan-Feb;18(1):91-3. Pediatr Med Chir. 1996. PMID: 8685031 Italian.

10

Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele.

Di Natale P, Villani GR, Esposito S, Balzano N, Filocamo M, Gatti R. Di Natale P, et al. Among authors: balzano n. Prenat Diagn. 1999 Oct;19(10):993-4. doi: 10.1002/(sici)1097-0223(199910)19:10<993::aid-pd661>3.0.co;2-l. Prenat Diagn. 1999. PMID: 10521831 No abstract available.

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