Corsolini F - Search Results

1

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M. Lualdi S, et al. Among authors: corsolini f. Biochim Biophys Acta. 2006 Apr;1762(4):478-84. doi: 10.1016/j.bbadis.2006.01.003. Epub 2006 Feb 9. Biochim Biophys Acta. 2006. PMID: 16495038 Free article.

2

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: corsolini f. Clin Genet. 1995 Sep;48(3):123-7. doi: 10.1111/j.1399-0004.1995.tb04070.x. Clin Genet. 1995. PMID: 8556817

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. Among authors: corsolini f. 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. Among authors: corsolini f. 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. Among authors: corsolini f. 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: corsolini f. Clin Genet. 1998 Jun;53(6):474-7. doi: 10.1111/j.1399-0004.1998.tb02598.x. Clin Genet. 1998. PMID: 9712538

7

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. Among authors: corsolini f. Eur J Hum Genet. 1999 Feb-Mar;7(2):125-30. doi: 10.1038/sj.ejhg.5200266. Eur J Hum Genet. 1999. PMID: 10196694

8

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: corsolini f. 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.

9

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).

Stroppiano M, Bonuccelli G, Corsolini F, Filocamo M. Stroppiano M, et al. Among authors: corsolini f. Am J Med Genet. 2001 Jun 1;101(1):55-8. doi: 10.1002/ajmg.1310. Am J Med Genet. 2001. PMID: 11343339

10

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

Filocamo M, Bonuccelli G, Mazzotti R, Corsolini F, Stroppiano M, Regis S, Gatti R. Filocamo M, et al. Among authors: corsolini f. Blood Cells Mol Dis. 2000 Dec;26(6):611-2. doi: 10.1006/bcmd.2000.0341. Blood Cells Mol Dis. 2000. PMID: 11358352 No abstract available.

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