Bisceglia L - Search Results

1

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al. Gasparini P, et al. Among authors: bisceglia l. Am J Hum Genet. 1995 Oct;57(4):781-8. Am J Hum Genet. 1995. PMID: 7573036 Free PMC article.

2

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

3

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

4

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.

5

Cystinuria type I: identification of eight new mutations in SLC3A1.

Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo AP, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L. Bisceglia L, et al. Kidney Int. 2001 Apr;59(4):1250-6. doi: 10.1046/j.1523-1755.2001.0590041250.x. Kidney Int. 2001. PMID: 11260385 Free article.

6

Gene symbol: SLC3A1. Disease: Cystinuria.

Nunes V, Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. Nunes V, et al. Among authors: bisceglia l. Hum Genet. 2005 May;116(6):541. Hum Genet. 2005. PMID: 15991324 No abstract available.

7

Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model.

Giannattasio S, Bisceglia L, Lattanzio P, Grifa A, Dianzani I, Gasparini P, Marra E. Giannattasio S, et al. Among authors: bisceglia l. Mol Cell Probes. 1995 Jun;9(3):201-5. doi: 10.1006/mcpr.1995.0032. Mol Cell Probes. 1995. PMID: 7477014

8

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations.

Bisceglia L, Grifa A, Zelante L, Gasparini P. Bisceglia L, et al. Hum Mutat. 1994;4(2):136-40. doi: 10.1002/humu.1380040208. Hum Mutat. 1994. PMID: 7526928

9

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Among authors: bisceglia l. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498

10

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.

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