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SANGALLI, Antonella

SANGALLI, Antonella  

DIPARTIMENTO DI NEUROSCIENZE, BIOMEDICINA E MOVIMENTO  

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Risultati 1 - 20 di 28 (tempo di esecuzione: 0.037 secondi).
Titolo Data di pubblicazione Autore(i) File
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
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
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
A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy 1-gen-2017 Margoni, M.; Soli, F.; Sangalli, Antonella; Bellizzi, M.; Cecchini, E.; Buganza, M.
Association of promoter polymorphism -765G>C in the PTGS2 gene with malignant melanoma in Italian patients and its correlation to gene expression in dermal fibroblasts. 1-gen-2014 Gomez, Maria Macarena; Ferronato, Silvia; Malerba, Giovanni; Santinami, M; Maurichi, A; Sangalli, Antonella; Turco, Alberto; Perego, P; Rodolfo, M.
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24 1-gen-2000 Floreani, A.; Molaro, M.; Mottes, M.; Sangalli, A.; Baragiotta, A.; Roda, A.; Naccarato, R.; Clementi, M.
Characterization and functional analysis of cis-acting elements of the human farnesyl diphosphate synthetase (FDPS) gene 5' flanking region. 1-gen-2009 Romanelli, Maria; Lorenzi, Pamela; Sangalli, Antonella; Diani, Erica; Mottes, Monica
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.
Enhancer of zeste 2 polycomb repressive complex 2 subunit polymorphisms in melanoma skin cancer risk 1-gen-2020 Belpinati, F.; Malerba, G.; Dal Toè, M.; Ceccuzzi, L.; Rodolfo, M.; Poli, A.; Turco, A.; Vergani, E.; Sangalli, A.; Gomez-Lira, M.
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
Increased prevalence of unstable HLA-C variants in HIV-1 rapid-progressor patients 1-gen-2022 Stefani, Chiara; Sangalli, Antonella; Locatelli, Elena; Federico, Tania; Malerba, Giovanni; Romanelli, Maria Grazia; Argañaraz, Gustavo Adolfo; Da Silva, Bosco Christiano Maciel; Da Silva, Alberto Jose Duarte; Casseb, Jorge; Argañaraz, Enrique Roberto; Ruggiero, Alessandra; Zipeto, Donato
Lack of association of metastasis-associated lung adenocarcinoma transcript 1 variants with melanoma skin cancer risk 1-gen-2019 Orlandi, Elisa; Chiara, Zanot; Poli, Albino; Nicolis, Morena; Monica, Rodolfo; Turco, Alberto; Sangalli, Antonella; Gomez-Lira, Macarena
Melanoma risk alleles are associated with down-regulation of the MTAP gene and hyper-methylation of a CpG Island upstream of the gene in dermal fibroblasts 1-gen-2017 Sangalli, Antonella; Malerba, Giovanni; Tessari, Gianpaolo; Rodolfo, M.; Gomez, Maria Macarena
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.
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.
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.
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
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
Rescue of Migratory Defects of Ehlers-Danlos Syndrome Fibroblasts In Vitro byType V Collagen but not Insulin-Like Binding Protein-1. 1-gen-2008 Viglio, S; Zoppi, N; Sangalli, Antonella; Gallanti, A; Barlati, S; Mottes, Monica; Colombi, M; Valli, M.