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Titolo Data di pubblicazione Autore(i) File
Isolation and characterization of two proteoglycans from bovine tendon 1-gen-1982 Valli, Maurizia; Tira, MARIA ENRICA; Balduini, Cesare
"In vitro" fibril formation of type I collagen from different sources: biochemical and morphological aspects. 1-gen-1986 Valli, Maurizia; Leonardi, L; Strocchi, R; Tenni, Ruggero; Guizzardi, S; Ruggeri, A; Balduini, Cesare
Severe nonlethal osteogenesis imperfecta: biochemical heterogeneity. 1-gen-1988 Tenni, Ruggero; Cetta, Giuseppe; Dyne, KATHARINE MARY; Valli, Maurizia; Zanaboni, Giuseppe; Castellani, Alessandro
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. 1-gen-1990 Tenni, Ruggero; Rossi, Antonio; Valli, Maurizia; Mottes, M; Pignatti, Pf; Cetta, Giuseppe
Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen. 1-gen-1990 Valli, Maurizia; Tenni, Ruggero; Cetta, Giuseppe
A de novo G to T transversion in a pro-a1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. 1-gen-1991 Valli, Maurizia; M., Mottes; Tenni, Ruggero; A., Sangalli; M., Gomez Lyra; Rossi, Antonio; F., Antoniazzi; Cetta, Giuseppe; P. F., Pignatti
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine a1(I) 901 substitution in a type-I collagen gene. 1-gen-1992 M., Mottes; A., Sangalli; Valli, Maurizia; M., Gomez Lyra; Tenni, Ruggero; P., Buttitta; P. F., Pignatti; Cetta, Giuseppe
Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta. 1-gen-1993 Tenni, Ruggero; Valli, Maurizia; Rossi, Antonio; Cetta, Giuseppe
Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta. 1-gen-1993 Cetta, Giuseppe; Rossi, Antonio; Tenni, Ruggero; Valli, Maurizia; Forlino, Antonella; Zanaboni, Giuseppe; Dyne, KATHARINE MARY; R., Burgio
Osteogenesis imperfecta and type I collagen mutations. A lethal variant caused by a Gly910->Ala substitution in the a1(I) chain. 1-gen-1993 Valli, Maurizia; A., Sangalli; Rossi, Antonio; M., Mottes; Forlino, Antonella; Tenni, Ruggero; P. F., Pignatti; Cetta, Giuseppe
Gly85 to Val substitution in proa1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion. 1-gen-1993 Valli, Maurizia; F., Zolezzi; M., Mottes; F., Antoniazzi; F., Stanzial; Tenni, Ruggero; P. F., Pignatti; Cetta, Giuseppe
Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta. 1-gen-1993 Valli, Maurizia; Rossi, Antonio; Forlino, Antonella; Tenni, Ruggero; Cetta, Giuseppe
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. 1-gen-1993 Mottes, M; Gomez Lira, Mm; Valli, Maurizia; Scarano, G; Lonardo, F; Forlino, Antonella; Cetta, Giuseppe; Pignatti, Pf
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. 1-gen-1994 Mottes, M; Sangalli, A; Valli, Maurizia; Forlino, Antonella; Gomez Lira, M; Antoniazzi, F; Constantinou Deltas, Cd; Cetta, Giuseppe; Pignatti, Pf
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. 1-gen-1994 Forlino, Antonella; Zolezzi, F; Valli, Maurizia; Pignatti, Pf; Cetta, Giuseppe; Brunelli, Pc; Mottes, M.
A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI. 1-gen-1995 Zolezzi, Francesca; Forlino, Antonella; Mottes, Monica; Valli, Maurizia; Sensi, Alberto; Calzolari, Elisa; Pignatti, Pierfrancesc; Cetta, Giuseppe
Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis. 1-gen-1996 Antoniazzi, Franco; Bertoldo, Francesco; Mottes, Monica; Valli, Maurizia; Sirpresi, Stefania; Zamboni, Giorgio; Valentini, Roberta; Tató, Luciano
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta. 1-gen-1996 Dyne, KATHARINE MARY; Valli, Maurizia; Forlino, Antonella; Mottes, Monica; Kresse, Hans; Cetta, Giuseppe
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. 1-gen-1996 Redford Badwal, Deborah; Stover Mary, Louise; Valli, Maurizia; Mckinstry, Monique; Rowe, David
Direct monitoring of prolidase activity in cultured skin fibroblasts using capillary electrophoresis. 1-gen-1997 Zanaboni, Giuseppe; Viglio, Simona; Dyne, KATHARINE MARY; Grimm, Rodolf; Valli, Maurizia; Cetta, Giuseppe; Iadarola, Paolo
Mostrati risultati da 1 a 20 di 49
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