Pignatti PF - Search Results

1

Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.

Valli M, Sangalli A, Rossi A, Mottes M, Forlino A, Tenni R, Pignatti PF, Cetta G. Valli M, et al. Among authors: pignatti pf. Eur J Biochem. 1993 Feb 1;211(3):415-9. doi: 10.1111/j.1432-1033.1993.tb17565.x. Eur J Biochem. 1993. PMID: 7679635 Free article.

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

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.

Valli M, Mottes M, Tenni R, Sangalli A, Gomez Lira M, Rossi A, Antoniazzi F, Cetta G, Pignatti PF. Valli M, et al. Among authors: pignatti pf. J Biol Chem. 1991 Jan 25;266(3):1872-8. J Biol Chem. 1991. PMID: 1988452 Free article.

8

Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes.

Tenni R, Rossi A, Valli M, Mottes M, Pignatti PF, Cetta G. Tenni R, et al. Among authors: pignatti pf. Matrix. 1990 Mar;10(1):20-6. doi: 10.1016/s0934-8832(11)80133-2. Matrix. 1990. PMID: 2352509

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

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

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