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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
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
Activity of alpha 1-antitrypsin and cigarette smoking in subarachnoid haemorrhage from ruptured aneurysm. 1-gen-1996 Gaetani, P; Tartara, F; Tancioni, F; Klersy, C; Forlino, Antonella; Baena, Rr
Alpha 1-antitrypsin activity in subarachnoid hemorrhage. 1-gen-1996 Tartara, F; Gaetani, P; Tancioni, F; Guagliano, A; Klersy, C; Forlino, Antonella; Marzatico, Fulvio; Rodriguez, Y. BAENA R.
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
Alternative splicing in COL1A1 mRNA leads to a partial null allele and two in-frame forms with structural defects in non-lethal osteogenesis imperfecta. 1-gen-1996 Wang, Q; Forlino, Antonella; Marini, Jc
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. 1-gen-1997 Forlino, Antonella; D'Amato, Elena; Valli, Maurizia; Camera, Gianni; Hopkins, Elizabeth; Marini, Joan; Cetta, Giuseppe; Coviello, Domenico
Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects. 1-gen-1997 Grassi, G; Forlino, Antonella; Marini, Jc
An alpha 2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta. 1-gen-1998 Forlino, Antonella; Keene, Dr; Schmidt, K; Marini, Jc
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. 1-gen-1998 Sarafova, Ap; Choi, H; Forlino, Antonella; Gajko, A; Cabral, Wa; Tosi, L; Reing, Cm; Marini, Jc
Use of the Cre/Lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. 1-gen-1999 Forlino, Antonella; Porter, Fd; Lee, Ej; Wesphal, H; Marini, Jc
Osteogenesis Imperfecta: prospects for molecular therapeutics. 1-gen-2000 Forlino, Antonella; Marini, Jc
Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril formation. 1-gen-2002 Cabral, W. A.; Fertala, A.; Green, L. K.; Korkko, J.; Forlino, Antonella; Marini, Jc
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts 1-gen-2002 Forlino, Antonella; Lupi, ANNA LISA; Vaghi, Patrizia; ICARO CORNAGLIA, Antonia; Calligaro, Alberto; Campari, Elena; Cetta, Giuseppe
Evaluation of the TiMo12Zr6Fe2 alloy for orthopaedic implants: in vitro biocompatibility study by using primary human fibroblasts and osteoblasts 1-gen-2002 Trentani, Laura; Pelillo, Francesco; Pavesi, F. C.; Ceciliani, Luciano; Cetta, Giuseppe; Forlino, Antonella
Mostrati risultati da 1 a 20 di 112
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