Pignatti PF - Search Results

1

Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations.

Ciminelli BM, Pompei F, Malaspina P, Hammer M, Persichetti F, Pignatti PF, Palena A, Anagnou N, Guanti G, Jodice C, et al. Ciminelli BM, et al. Among authors: pignatti pf. J Mol Evol. 1995 Dec;41(6):966-73. doi: 10.1007/BF00173177. J Mol Evol. 1995. PMID: 8587142

2

Highly preferential association of NonF508del CF mutations with the M470 allele.

Ciminelli BM, Bonizzato A, Bombieri C, Pompei F, Gabaldo M, Ciccacci C, Begnini A, Holubova A, Zorzi P, Piskackova T, Macek M Jr, Castellani C, Modiano G, Pignatti PF. Ciminelli BM, et al. Among authors: pignatti pf. J Cyst Fibros. 2007 Jan;6(1):15-22. doi: 10.1016/j.jcf.2006.04.003. Epub 2006 Jun 19. J Cyst Fibros. 2007. PMID: 16784904 Free article.

3

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G. Bombieri C, et al. Among authors: pignatti pf. Hum Genet. 2000 Feb;106(2):172-8. doi: 10.1007/s004390051025. Hum Genet. 2000. PMID: 10746558 Free article.

4

Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.

Novelli G, Gasparini P, Savoia A, Pignatti PF, Sangiuolo F, Dallapiccola B. Novelli G, et al. Among authors: pignatti pf. Hum Genet. 1990 Sep;85(4):420-1. doi: 10.1007/BF02428291. Hum Genet. 1990. PMID: 2210757

5

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.

Renieri A, Galli L, De Marchi M, Li Volti S, Mollica F, Lupo A, Maschio G, Peissel B, Rossetti S, Pignatti P, et al. Renieri A, et al. Hum Mol Genet. 1994 Jan;3(1):201-2. doi: 10.1093/hmg/3.1.201. Hum Mol Genet. 1994. PMID: 8162029 No abstract available.

6

Genetic variation in the Italian population at five tandem repeat loci amplified in vitro: use in paternity testing.

Trabetti E, Galavotti R, Pignatti PF. Trabetti E, et al. Among authors: pignatti pf. Mol Cell Probes. 1993 Feb;7(1):81-7. doi: 10.1006/mcpr.1993.1011. Mol Cell Probes. 1993. PMID: 8455646

7

Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorphisms in the Italian population.

Gasparini P, Trabetti E, Savoia A, Marigo M, Pignatti PF. Gasparini P, et al. Among authors: pignatti pf. Hum Hered. 1990;40(2):61-8. doi: 10.1159/000153907. Hum Hered. 1990. PMID: 1970803

8

Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

Forlino A, Zolezzi F, Valli M, Pignatti PF, Cetta G, Brunelli PC, Mottes M. Forlino A, et al. Among authors: pignatti pf. Hum Mol Genet. 1994 Dec;3(12):2201-6. doi: 10.1093/hmg/3.12.2201. Hum Mol Genet. 1994. PMID: 7881420

9

Bone marrow transplantation monitoring by DNA analysis.

Gasparini P, Martinelli G, Trabetti E, Ambrosetti A, Benedetti F, Pignatti PF. Gasparini P, et al. Among authors: pignatti pf. Bone Marrow Transplant. 1989 Dec;4 Suppl 4:157-9. Bone Marrow Transplant. 1989. PMID: 2627619

10

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.

Marigo C, Bombieri C, Bisceglia L, Zelante L, Gasparini P, Pignatti PF. Marigo C, et al. Among authors: pignatti pf. Mol Cell Probes. 1995 Apr;9(2):139-41. doi: 10.1016/s0890-8508(95)80039-5. Mol Cell Probes. 1995. PMID: 7541511

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