Pignatti PF - Search Results

1

Haplotype frequencies of the collagen type-I genes in the Italian population.

Mottes M, Cugola L, Pignatti PF. Mottes M, et al. Among authors: pignatti pf. Hum Genet. 1989 Nov;83(4):369-72. doi: 10.1007/BF00291383. Hum Genet. 1989. PMID: 2572536

2

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

3

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

Gomez-Lira M, Sangalli A, Pignatti PF, Digilio MC, Giannotti A, Carnevale E, Mottes M. Gomez-Lira M, et al. Among authors: pignatti pf. J Med Genet. 1994 Dec;31(12):965-8. doi: 10.1136/jmg.31.12.965. J Med Genet. 1994. PMID: 7891382 Free PMC article.

4

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F, Constantinou-Deltas CD, Cetta G, Pignatti PF. Mottes M, et al. Among authors: pignatti pf. Hum Genet. 1994 Jun;93(6):681-7. doi: 10.1007/BF00201570. Hum Genet. 1994. PMID: 8005592

5

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.

Mottes M, Sangalli A, Pignatti PF. Mottes M, et al. Among authors: pignatti pf. Am J Med Genet. 1993 Jan 15;45(2):217-22. doi: 10.1002/ajmg.1320450213. Am J Med Genet. 1993. PMID: 8096115

6

Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

Mottes M, Gomez Lira MM, Valli M, Scarano G, Lonardo F, Forlino A, Cetta G, Pignatti PF. Mottes M, et al. Among authors: pignatti pf. Hum Mutat. 1993;2(3):196-204. doi: 10.1002/humu.1380020308. Hum Mutat. 1993. PMID: 8364588

7

Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.

Mottes M, Mirandola S, Rigatelli F, Zolezzi F, Lisi V, Gordon D, Pignatti PF. Mottes M, et al. Among authors: pignatti pf. Hum Hered. 2000 May-Jun;50(3):175-9. doi: 10.1159/000022910. Hum Hered. 2000. PMID: 10686496

8

Segregation analysis of dominant osteogenesis imperfecta in Italy.

Mottes M, Cugola L, Cappello N, Pignatti PF. Mottes M, et al. Among authors: pignatti pf. J Med Genet. 1990 Jun;27(6):367-70. doi: 10.1136/jmg.27.6.367. J Med Genet. 1990. PMID: 1972760 Free PMC article.

9

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.

Mottes M, Sangalli A, Valli M, Gomez Lira M, Tenni R, Buttitta P, Pignatti PF, Cetta G. Mottes M, et al. Among authors: pignatti pf. Hum Genet. 1992 Jul;89(5):480-4. doi: 10.1007/BF00219169. Hum Genet. 1992. PMID: 1634225

10

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Salviati A. Gomez-Lira M, et al. Among authors: pignatti pf. Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799. Hum Genet. 1995. PMID: 7557963

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