Gasparini P - Search Results

1

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.

Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW, Carrington M, Winkler C, Huttley GA, Allikmets R, Schriml L, Gerrard B, Malasky M, Ramos MD, Morlot S, Tzetis M, Oddoux C, di Giovine FS, Nasioulas G, Chandler D, Aseev M, Hanson M, Kalaydjieva L, Glavac D, Gasparini P, Kanavakis E, Claustres M, Kambouris M, Ostrer H, Duff G, Baranov V, Sibul H, Metspalu A, Goldman D, Martin N, Duffy D, Schmidtke J, Estivill X, O'Brien SJ, Dean M. Stephens JC, et al. Among authors: gasparini p. Am J Hum Genet. 1998 Jun;62(6):1507-15. doi: 10.1086/301867. Am J Hum Genet. 1998. PMID: 9585595 Free PMC article.

2

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R, Gasparini P, Estivill X. Rabionet R, et al. Among authors: gasparini p. Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I. Hum Mutat. 2000. PMID: 10980526 Review.

3

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study.

Ferrari M, Antonelli M, Bellini F, Borgo G, Castiglione O, Curcio L, Dallapiccola B, Devoto M, Estivill X, Gasparini P, et al. Ferrari M, et al. Among authors: gasparini p. Hum Genet. 1990 Apr;84(5):435-8. doi: 10.1007/BF00195815. Hum Genet. 1990. PMID: 2323776

4

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Morral N, Llevadot R, Casals T, Gasparini P, Macek M Jr, Dörk T, Estivill X. Morral N, et al. Among authors: gasparini p. Am J Hum Genet. 1994 Nov;55(5):890-8. Am J Hum Genet. 1994. PMID: 7526685 Free PMC article.

5

High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. Gasparini P, et al. Eur J Hum Genet. 2000 Jan;8(1):19-23. doi: 10.1038/sj.ejhg.5200406. Eur J Hum Genet. 2000. PMID: 10713883

6

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X. Rabionet R, et al. Among authors: gasparini p. Hum Genet. 2000 Jan;106(1):40-4. doi: 10.1007/s004390051007. Hum Genet. 2000. PMID: 10982180

7

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.

Estivill X, Gasparini P, Novelli G, Casals T, Nunes V, Gallano P, Savoia A, Ruzzo A, Dallapiccola B, Pignatti PF. Estivill X, et al. Among authors: gasparini p. Hum Genet. 1989 Sep;83(2):175-8. doi: 10.1007/BF00286713. Hum Genet. 1989. PMID: 2777258

8

A tetranucleotide repeat polymorphism in the cystic fibrosis gene.

Gasparini P, Dognini M, Bonizzato A, Pignatti PF, Morral N, Estivill X. Gasparini P, et al. Hum Genet. 1991 Apr;86(6):625. doi: 10.1007/BF00201556. Hum Genet. 1991. PMID: 1709137 No abstract available.

9

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

10

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

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