Filocamo M - Search Results

1

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M. Romano M, et al. Among authors: filocamo m. Blood Cells Mol Dis. 2000 Jun;26(3):171-6. doi: 10.1006/bcmd.2000.0293. Blood Cells Mol Dis. 2000. PMID: 10950936

2

Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.

Filocamo M, Bonuccelli G, Mazzotti R, Giona F, Gatti R. Filocamo M, et al. Blood Cells Mol Dis. 2000 Aug;26(4):307-11. doi: 10.1006/bcmd.2000.0308. Blood Cells Mol Dis. 2000. PMID: 11042032

3

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R. Filocamo M, et al. Hum Mutat. 2002 Sep;20(3):234-5. doi: 10.1002/humu.9058. Hum Mutat. 2002. PMID: 12204005

4

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG. Miocić S, et al. Among authors: filocamo m. Hum Mutat. 2005 Jan;25(1):100. doi: 10.1002/humu.9301. Hum Mutat. 2005. PMID: 15605411

5

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. 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.

6

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.

7

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).

Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R. Filocamo M, et al. Epilepsia. 2004 Sep;45(9):1154-7. doi: 10.1111/j.0013-9580.2004.15904.x. Epilepsia. 2004. PMID: 15329082 Free article.

8

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.

Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R. Filocamo M, et al. Hum Mutat. 2001 Aug;18(2):164-5. doi: 10.1002/humu.1169. Hum Mutat. 2001. PMID: 11462244

9

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Amico G, Grossi S, Vijzelaar R, Lanza F, Mazzotti R, Corsolini F, Ketema M, Filocamo M. Amico G, et al. Among authors: filocamo m. Mol Genet Metab. 2016 Dec;119(4):329-337. doi: 10.1016/j.ymgme.2016.10.008. Epub 2016 Oct 27. Mol Genet Metab. 2016. PMID: 27802905

10

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.

Regis S, Filocamo M, Mazzotti R, Cusano R, Corsolini F, Bonuccelli G, Stroppiano M, Gatti R. Regis S, et al. Among authors: filocamo m. Prenat Diagn. 2001 Aug;21(8):668-71. doi: 10.1002/pd.112. Prenat Diagn. 2001. PMID: 11536268

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