Bisceglia L - Search Results

1

Detection of dystrophin deletion carriers using FISH analysis.

Calvano S, Memeo E, Piemontese MR, Melchionda S, Bisceglia L, Gasparini P, Zelante L. Calvano S, et al. Among authors: bisceglia l. Clin Genet. 1997 Jul;52(1):17-22. doi: 10.1111/j.1399-0004.1997.tb02509.x. Clin Genet. 1997. PMID: 9272708

2

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):207. doi: 10.1007/s00439-007-0398-z. Hum Genet. 2007. PMID: 17629748 No abstract available.

3

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.

4

The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome.

Gasparini P, Grifa A, Savasta S, Merlo I, Bisceglia L, Totaro A, Zelante L. Gasparini P, et al. Among authors: bisceglia l. Hum Genet. 1994 Dec;94(6):671-4. doi: 10.1007/BF00206962. Hum Genet. 1994. PMID: 7989042

5

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V. Bisceglia L, et al. Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237. Hum Genet. 1996. PMID: 8792820

6

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Bisceglia L, Calonge MJ, Totaro A, Feliubadaló L, Melchionda S, García J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M. Bisceglia L, et al. Am J Hum Genet. 1997 Mar;60(3):611-6. Am J Hum Genet. 1997. PMID: 9042921 Free PMC article.

7

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

Piemontese MR, Memeo E, Carella M, Amati P, Chomel JC, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, Bisceglia L. Piemontese MR, et al. Among authors: bisceglia l. Eur J Hum Genet. 1997 May-Jun;5(3):171-4. Eur J Hum Genet. 1997. PMID: 9272742

8

Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization.

Gasparini P, Calvano S, Memeo E, Bisceglia L, Zelante L. Gasparini P, et al. Among authors: bisceglia l. Ann Genet. 1997;40(4):227-8. Ann Genet. 1997. PMID: 9526618

9

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: bisceglia l. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.

10

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Palumbo O, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386345 No abstract available.

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