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Titolo Data di pubblicazione Autore(i) File
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 1-gen-1991 Valli, M.; Mottes, Monica; Tenni, R.; Sangalli, Antonella; Gomez, Maria Macarena; Rossi, A.; Antoniazzi, Franco; Cetta, G.; Pignatti, Pierfranco
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 1-gen-1992 Mottes, Monica; Sangalli, Antonella; Valli, M.; Gomez, Maria Macarena; Tenni, R.; Buttitta, P.; Pignatti, Pierfranco; Cetta, G.
Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families. 1-gen-1993 Mottes, Monica; Sangalli, Antonella; Pignatti, Pierfranco
Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain 1-gen-1993 Valli, M.; Sangalli, A.; Rossi, A.; Mottes, M.; Forlino, A.; Tenni, R.; Pignatti, P. F.; Cetta, G.
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II Osteogenesis Imperfecta dramatically affects the mineralization of bone 1-gen-1994 COHEN SOLAL, L.; Zylberberg, L.; Sangalli, Antonella; Gomez, Maria Macarena; Mottes, Monica
A base substitution at IVS-19 3' splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta 1-gen-1994 Mottes, Monica; Sangalli, Antonella; Valli, M.; Forlino, A.; Gomez, Maria Macarena; Antoniazzi, Franco; CONSTANTINOU DELTAS, C. D.; Cetta, G.; Pignatti, Pierfranco
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 1-gen-1994 Gomez-Lira, M.; Sangalli, A.; Pignatti, P. F.; Digilio, M. C.; Giannotti, A.; Carnevale, E.; Mottes, M.
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, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, C. D.; Cetta, G.; Pignatti, P. F.
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients. 1-gen-1995 Gomez, Maria Macarena; Sangalli, Antonella; Mottes, Monica; Perusi, C; Pignatti, Pierfranco; Rizzuto, Nicolo'; Salviati, Alessandro
Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro. 1-gen-1998 Sangalli, Antonella; Taveggia, C; Salviati, Alessandro; Wrabetz, L; Bordignon, C; Severini, G. M.
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24 1-gen-2000 A., Floreani; M., Molaro; Mottes, Monica; Sangalli, Antonella; A., Baragiotta; A., Roda; R., Naccarato; M., Clementi
Stickler syndrome and vitreoretinal degeneration: correlation between locus mitation and vitreous phenotype. Apropos of a case 1-gen-2001 F., Parentin; Sangalli, Antonella; Mottes, Monica; P., Perissutti
Linkage analysis of three candidate gene polymorphisms with bone density in a sample of Italian families 1-gen-2002 Sangalli, Antonella; Malerba, Giovanni; Braga, V.; Petrelli, E.; Xumerle, Luciano; Adami, Silvano; Mottes, Monica
Relationship among VDR (BsmI and FokI), COL1A1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men 1-gen-2002 Braga, V.; Sangalli, Antonella; Malerba, Giovanni; Mottes, Monica; Mirandola, Stefania; Gatti, Davide; Rossini, Maurizio; Zamboni, Mauro; Adami, Silvano
Rapid and efficient genotype analysis of the COL1A1 Sp1 binding site dimorphism, a genetic marker for bone mineral density 1-gen-2002 S., Mirandola; Sangalli, Antonella; Mottes, Monica
Analisi di linkage di geni candidati per densità minerale 1-gen-2002 Sangalli, Antonella; Malerba, Giovanni; Xumerle, Luciano; Braga, V.; Adami, Silvano; Mottes, Monica
Indagine sul coinvolgimento di gene LRP5 nella densità minerale ossea 1-gen-2002 Petrelli, Elena; Malerba, Giovanni; Sangalli, Antonella; Xumerle, Luciano; Braga, V.; Mottes, Monica
Studio di procedure per l’aggiustamento delle genotipizzazioni condotte su un elevato numero di famiglie 1-gen-2002 Malerba, Giovanni; Sangalli, Antonella; Xumerle, Luciano; Mottes, Monica; Pignatti, Pierfranco
Linkage analysis of LRP5 gene with bone mass density 1-gen-2003 Petrelli, Elena; Sangalli, Antonella; Malerba, Giovanni; Xumerle, Luciano; Braga, V.; Adami, Silvano; Pignatti, Pierfranco; Mottes, Monica
osteoporosis in (beta) - Thalassemia: Clinical and Genetic Aspect 1-gen-2005 Origa, R; Fiumana, E; Gamberini, Mr; Armari, S; Mottes, Monica; Sangalli, Antonella; Paglietti, E; Galanello, R; Borgna Pignatti, C.
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