Gatti R - Search Results

1

A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.

Seo HC, Yang M, Tonlorenzi R, Willems PJ, Kim AH, Filocamo M, Gatti R, DiCioccio RA, O'Brien JS. Seo HC, et al. Among authors: gatti r. Hum Mol Genet. 1994 Nov;3(11):2065-6. Hum Mol Genet. 1994. PMID: 7874128 No abstract available.

2

Detection of carriers and prenatal diagnosis for fucosidosis in Calabria.

Durand P, Gatti R, Borrone C, Costantino G, Cavalieri S, Filocamo M, Romeo G. Durand P, et al. Among authors: gatti r. Hum Genet. 1979 Oct 1;51(2):195-201. doi: 10.1007/BF00287175. Hum Genet. 1979. PMID: 511146

3

Fucosidosis revisited: a review of 77 patients.

Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS. Willems PJ, et al. Among authors: gatti r. Am J Med Genet. 1991 Jan;38(1):111-31. doi: 10.1002/ajmg.1320380125. Am J Med Genet. 1991. PMID: 2012122 Review.

4

Heterogeneity of mRNA expression in Italian fucosidosis patients.

Guazzi S, Persici P, Gatti R, Durand P, O'Brien JS, Romeo G. Guazzi S, et al. Among authors: gatti r. Hum Genet. 1989 Apr;82(1):63-6. doi: 10.1007/BF00288274. Hum Genet. 1989. PMID: 2565868

5

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

6

Mutations in fucosidosis gene: a review.

Tiberio G, Filocamo M, Gatti R, Durand P. Tiberio G, et al. Among authors: gatti r. Acta Genet Med Gemellol (Roma). 1995;44(3-4):223-32. doi: 10.1017/s0001566000001641. Acta Genet Med Gemellol (Roma). 1995. PMID: 8739734 Review.

7

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.

8

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: gatti r. Hum Genet. 2000 Dec;107(6):568-76. doi: 10.1007/s004390000429. Hum Genet. 2000. PMID: 11153910

9

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.

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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