Pignatti PF - Search Results

1

Molecular genetic investigations in autosomal dominant polycystic kidney disease. Gene Mutation detection, linkage analysis, and preliminary ACE gene I/D polymorphism association studies: an update.

Turco AE, Bresin E, Rossetti S, Englisch S, Pignatti PF, Gammaro L, Maschio G, Bendetti M, Li Vecchi M, Ferrantelli A, Cerasola G, Stiasny B, Schulze B. Turco AE, et al. Among authors: pignatti pf. Contrib Nephrol. 1997;122:53-7. doi: 10.1159/000059868. Contrib Nephrol. 1997. PMID: 9399039 No abstract available.

2

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.

Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. Hum Mol Genet. 1995 Aug;4(8):1331-5. doi: 10.1093/hmg/4.8.1331. Hum Mol Genet. 1995. PMID: 7581371

3

Rapid DNA-based prenatal diagnosis of autosomal dominant polycystic kidney disease.

Turco AE, Peissel B, Rossetti S, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. Arch Pediatr Adolesc Med. 1994 Oct;148(10):1101-2. doi: 10.1001/archpedi.1994.02170100099020. Arch Pediatr Adolesc Med. 1994. PMID: 7921104 No abstract available.

4

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.

Turco AE, Padovani EM, Peissel B, Chiaffoni GP, Rossetti S, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. J Perinat Med. 1995;23(3):205-12. doi: 10.1515/jpme.1995.23.3.205. J Perinat Med. 1995. PMID: 8568612

5

Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes.

Turco AE, Rossetti S, Peissel B, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. Contrib Nephrol. 1995;115:88-92. doi: 10.1159/000424400. Contrib Nephrol. 1995. PMID: 8585924 No abstract available.

6

Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.

Rossetti S, Bresin E, Restagno G, Carbonara A, Corrà S, De Prisco O, Pignatti PF, Turco AE. Rossetti S, et al. Among authors: pignatti pf. Am J Med Genet. 1996 Oct 16;65(2):155-9. doi: 10.1002/(SICI)1096-8628(19961016)65:2<155::AID-AJMG15>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8911610

7

Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease.

Turco AE, Rossetti S, Bresin E, Corrà S, Restagno G, Carbonara A, De Prisco O, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. Nephrol Dial Transplant. 1996;11 Suppl 6:10-2. doi: 10.1093/ndt/11.supp6.10. Nephrol Dial Transplant. 1996. PMID: 9044320

8

Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA).

Rossetti S, Englisch S, Bresin E, Pignatti PF, Turco AE. Rossetti S, et al. Among authors: pignatti pf. Mol Cell Probes. 1997 Apr;11(2):155-60. doi: 10.1006/mcpr.1996.0085. Mol Cell Probes. 1997. PMID: 9160331

9

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

Turco AE, Rossetti S, Bresin E, Englisch S, Corrà S, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. Hum Mutat. 1997;10(2):164-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<164::AID-HUMU9>3.0.CO;2-K. Hum Mutat. 1997. PMID: 9259200 No abstract available.

10

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

Turco AE, Padovani EM, Chiaffoni GP, Peissel B, Rossetti S, Marcolongo A, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Among authors: pignatti pf. J Med Genet. 1993 May;30(5):419-22. doi: 10.1136/jmg.30.5.419. J Med Genet. 1993. PMID: 8320707 Free PMC article.

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