Gatti R - Search Results

1

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.

Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier MT, et al. Akli S, et al. Among authors: gatti r. Eur J Hum Genet. 1993;1(3):229-38. doi: 10.1159/000472416. Eur J Hum Genet. 1993. PMID: 8044648

2

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

3

Mutations among Italian mucopolysaccharidosis type I patients.

Gatti R, DiNatale P, Villani GR, Filocamo M, Muller V, Guo XH, Nelson PV, Scott HS, Hopwood JJ. Gatti R, et al. J Inherit Metab Dis. 1997 Nov;20(6):803-6. doi: 10.1023/a:1005323918923. J Inherit Metab Dis. 1997. PMID: 9427149

4

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: gatti r. 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.

5

Prenatal diagnosis of Hunter syndrome using chorionic villi.

Pannone N, Gatti R, Lombardo C, Di Natale P. Pannone N, et al. Among authors: gatti r. Prenat Diagn. 1986 May-Jun;6(3):207-10. doi: 10.1002/pd.1970060307. Prenat Diagn. 1986. PMID: 3088561

6

Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.

Gatti R, Borrone C, Filocamo M, Pannone N, Di Natale P. Gatti R, et al. Prenat Diagn. 1985 Mar-Apr;5(2):149-54. doi: 10.1002/pd.1970050209. Prenat Diagn. 1985. PMID: 3921950

7

First-trimester prenatal diagnosis of Sanfilippo C disease.

Di Natale P, Pannone N, D'Argenio G, Gatti R, Ricci R, Lombardo C. Di Natale P, et al. Among authors: gatti r. Prenat Diagn. 1987 Oct;7(8):603-5. doi: 10.1002/pd.1970070811. Prenat Diagn. 1987. PMID: 3120172

8

The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.

Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A. Palmieri G, et al. Among authors: gatti r. Genomics. 1992 Jan;12(1):52-7. doi: 10.1016/0888-7543(92)90405-h. Genomics. 1992. PMID: 1733863

9

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.

Mosna G, Fattore S, Tubiello G, Brocca S, Trubia M, Gianazza E, Gatti R, Danesino C, Minelli A, Piantanida M. Mosna G, et al. Among authors: gatti r. Hum Genet. 1992 Nov;90(3):247-50. doi: 10.1007/BF00220071. Hum Genet. 1992. PMID: 1487238

10

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

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