Filocamo M - 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: filocamo m. 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: filocamo m. Hum Genet. 1979 Oct 1;51(2):195-201. doi: 10.1007/BF00287175. Hum Genet. 1979. PMID: 511146

3

Mutations in fucosidosis gene: a review.

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

4

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: filocamo m. Hum Genet. 1995 Aug;96(2):233-5. doi: 10.1007/BF00207387. Hum Genet. 1995. PMID: 7635478

5

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: filocamo m. Hum Genet. 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. Hum Genet. 1998. PMID: 9490297

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

7

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: filocamo m. 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.

8

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene.

Filocamo M, Regis S, Mazzotti R, Parenti G, Stroppiano M, Gatti R. Filocamo M, et al. J Med Genet. 2001 Oct;38(10):E34. doi: 10.1136/jmg.38.10.e34. J Med Genet. 2001. PMID: 11584048 Free PMC article. No abstract available.

9

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.

Venturi N, Rovelli A, Parini R, Menni F, Brambillasca F, Bertagnolio F, Uziel G, Gatti R, Filocamo M, Donati MA, Biondi A, Goldwurm S. Venturi N, et al. Among authors: filocamo m. Hum Mutat. 2002 Sep;20(3):231. doi: 10.1002/humu.9051. Hum Mutat. 2002. PMID: 12203999

10

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: filocamo m. Clin Genet. 1997 Jul;52(1):65-7. doi: 10.1111/j.1399-0004.1997.tb02518.x. Clin Genet. 1997. PMID: 9272717

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