Gasparini P - 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. 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. 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. Among authors: gasparini p. 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. Among authors: gasparini p. 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. Among authors: gasparini p. 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

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: gasparini p. Mol Cell Probes. 1995 Jun;9(3):201-5. doi: 10.1006/mcpr.1995.0032. Mol Cell Probes. 1995. PMID: 7477014

7

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. Among authors: gasparini p. Hum Mutat. 1994;4(2):136-40. doi: 10.1002/humu.1380040208. Hum Mutat. 1994. PMID: 7526928

8

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.

Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V. Calonge MJ, et al. Among authors: gasparini p. Hum Genet. 1995 Jun;95(6):633-6. doi: 10.1007/BF00209478. Hum Genet. 1995. PMID: 7789946

9

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, et al. Calonge MJ, et al. Among authors: gasparini p. Nat Genet. 1994 Apr;6(4):420-5. doi: 10.1038/ng0494-420. Nat Genet. 1994. PMID: 8054986

10

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F.

Gasparini P, Borgato L, Piperno A, Girelli D, Olivieri O, Gottardi E, Roetto A, Dianzani I, Fargion S, Schinaia G, et al. Gasparini P, et al. Hum Mol Genet. 1993 May;2(5):571-6. doi: 10.1093/hmg/2.5.571. Hum Mol Genet. 1993. PMID: 8518796

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