Gatti R - Search Results

1

Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.).

Carrozzo R, Tonlorenzi R, Corsolini F, Gatti R. Carrozzo R, et al. Among authors: gatti r. Hum Mutat. 1996;7(2):184-5. doi: 10.1002/humu.1380070204. Hum Mutat. 1996. PMID: 8829647 No abstract available.

2

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R. Filocamo M, et al. Among authors: gatti r. Hum Mutat. 2002 Sep;20(3):234-5. doi: 10.1002/humu.9058. Hum Mutat. 2002. PMID: 12204005

3

A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.

Bonuccelli G, Filocamo M, Regis S, Corsolini F, Mazzotti R, Gatti R. Bonuccelli G, et al. Among authors: gatti r. Hum Mutat. 2000 Apr;15(4):389. doi: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU30>3.0.CO;2-3. Hum Mutat. 2000. PMID: 10738003 No abstract available.

4

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R. Filocamo M, et al. Among authors: gatti r. Hum Mutat. 2001 Aug;18(2):164-5. doi: 10.1002/humu.1169. Hum Mutat. 2001. PMID: 11462244

5

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Ricci V, Filocamo M, Regis S, Corsolini F, Stroppiano M, Di Duca M, Gatti R. Ricci V, et al. Among authors: gatti r. Am J Med Genet A. 2003 Jul 1;120A(1):84-7. doi: 10.1002/ajmg.a.10215. Am J Med Genet A. 2003. PMID: 12794697

6

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.

Regis S, Carrozzo R, Filocamo M, Serra G, Mastropaolo C, Gatti R. Regis S, et al. Among authors: gatti r. Hum Genet. 1995 Aug;96(2):233-5. doi: 10.1007/BF00207387. Hum Genet. 1995. PMID: 7635478

7

A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.

Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R. Seri M, et al. Among authors: gatti r. Clin Genet. 1995 Sep;48(3):123-7. doi: 10.1111/j.1399-0004.1995.tb04070.x. Clin Genet. 1995. PMID: 8556817

8

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R. Regis S, et al. Among authors: gatti r. J Med Genet. 1996 Mar;33(3):251-2. doi: 10.1136/jmg.33.3.251. J Med Genet. 1996. PMID: 8728704 Free PMC article.

9

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R. Regis S, et al. Among authors: gatti r. Clin Genet. 1997 Jul;52(1):65-7. doi: 10.1111/j.1399-0004.1997.tb02518.x. Clin Genet. 1997. PMID: 9272717

10

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R. Regis S, et al. Among authors: gatti r. Hum Genet. 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. Hum Genet. 1998. PMID: 9490297

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