Regis S - Search Results

1

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M. Donnarumma M, et al. Among authors: regis s. Hum Mutat. 2007 May;28(5):524. doi: 10.1002/humu.9490. Hum Mutat. 2007. PMID: 17397052

2

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

3

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. 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.

4

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

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

6

A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.

Bonuccelli G, Regis S, Filocamo M, Corsolini F, Caroli F, Gatti R. Bonuccelli G, et al. Among authors: regis s. Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x. Clin Genet. 1998. PMID: 9712538

7

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R. Stroppiano M, et al. Among authors: regis s. J Inherit Metab Dis. 1999 Feb;22(1):43-9. doi: 10.1023/a:1005495131118. J Inherit Metab Dis. 1999. PMID: 10070617

8

An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R. Regis S, et al. Eur J Hum Genet. 1999 Feb-Mar;7(2):125-30. doi: 10.1038/sj.ejhg.5200266. Eur J Hum Genet. 1999. PMID: 10196694

9

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: regis s. 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.

10

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.

Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M. Dagnino F, et al. Among authors: regis s. Hum Hered. 2000 Nov-Dec;50(6):331-3. doi: 10.1159/000022938. Hum Hered. 2000. PMID: 10899751

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