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COLOMBI, MARINA

COLOMBI, MARINA  

Dipartimento di Medicina Molecolare e Traslazionale  

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A -96C-T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolys bullosa 1-gen-2000 Gardella, Rita; Barlati, Sergio; Zoppi, Nicoletta; Tadini, G; Colombi, Marina
A cellular test for Ehlers-Danlos syndromes diagnosis. 1-gen-2006 Colombi, Marina; Zoppi, Nicoletta; Coucke, P. J.; Mottes, M.; De Paepe, A.; Barlati, Sergio
A Child With Self-Improving Hypotonia: Look at the Skin! 1-gen-2020 Conversano, E.; Agrusti, A.; Conti, R.; Magnolato, A.; Bruno, I.; Colombi, M.; Barbi, E.; Faletra, F.
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 1-gen-2018 Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco
A common MspI RFLP of the human fibronectin gene (FN1) 1-gen-1988 Gardella, Rita; Colombi, Marina; Barlati, Sergio
A family of fibronectin mRNA in human normal and transformed cells 1-gen-1986 Colombi, Marina; Barlati, Sergio; Kornblihtt, A.; Baralle, F.; Vaheri, A.
A frequent HaeIII RFLP of the human fibronectin gene 1-gen-1987 Colombi, Marina; Gardella, Rita; Barlati, Sergio; Vaheri, A.
A frequent Hind RFLP of the human fibronectin) gene (FN1) 1-gen-1988 Colombi, Marina; Gardella, Rita; Barlati, Sergio
A new Taq RFLP of the human fibronecin gene (FN1) 1-gen-1989 Gardella, Rita; Colombi, Marina; Barlati, Sergio
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia 1-gen-2016 Windpessl, Martin; Ritelli, Marco Giuseppe; Wallner, Manfred; Colombi, Marina
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 1-gen-2018 Morlino, Silvia; Castori, Marco; Dordoni, Chiara; Cinquina, Valeria; Santoro, Graziano; Grammatico, Paola; Venturini, Marina; Colombi, Marina; Ritelli, Marco
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 1-gen-2018 Ritelli, Marco Giuseppe; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
A Taq RFLP for the human fibronectin (FN1) gene 1-gen-1988 Gardella, Rita; Colombi, Marina; Barlati, Sergio
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients 1-gen-2019 Angwin, C.; Brady, A. F.; Colombi, M.; Ferguson, D. J. P.; Pollitt, R.; Pope, F. M.; Ritelli, M.; Symoens, S.; Ghali, N.; Van Dijk, F. S.
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene 1-gen-2012 Castori, M.; Ritelli, Marco Giuseppe; Zoppi, Nicoletta; Molisso, L.; Chiarelli, Nicola; Zaccagna, F.; Grammatico, P.; Colombi, Marina
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with the novel homozygous c.1411+1G>A mutation in the SLC2A10 Gene. 1-gen-2011 Ritelli, M; Castori, M; Zoppi, N; Chiarelli, N; Molosso, L; Zaccagna, F; Grammatico, P; Colombi, M.
Age of onset of cerebral venous thrombosis: the BEAST study 1-gen-2023 Ranjan, Redoy; Ken-Dror, Gie; Martinelli, Ida; Grandone, Elvira; Hiltunen, Sini; Lindgren, Erik; Margaglione, Maurizio; Le Cam Duchez, Veronique; Bagan Triquenot, Aude; Zedde, Marialuisa; Mancuso, Michelangelo; Ruigrok, Ynte M; Worrall, Brad; Majersik, Jennifer J; Putaala, Jukka; Haapaniemi, Elena; Zuurbier, Susanna M; Brouwer, Matthijs C; Passamonti, Serena M; Abbattista, Maria; Bucciarelli, Paolo; Lemmens, Robin; Pappalardo, Emanuela; Costa, Paolo; Colombi, Marina; Aguiar de Sousa, Diana; Rodrigues, Sofia; Canhao, Patrícia; Tkach, Aleksander; Santacroce, Rosa; Favuzzi, Giovanni; Arauz, Antonio; Colaizzo, Donatella; Spengos, Kostas; Hodge, Amanda; Ditta, Reina; Han, Thang S; Pezzini, Alessandro; Coutinho, Jonathan M; Thijs, Vincent; Jood, Katarina; Tatlisumak, Turgut; Ferro, José M; Sharma, Pankaj
Age-dependent effect of susceptibility factors on the risk of intracerebral haemorrhage: Multicenter Study on Cerebral Hemorrhage in Italy (MUCH-Italy) 1-gen-2021 Locatelli, M.; Grassi, M.; Saba, V.; Iacovello, L.; Di Castelnuovo, A.; De Gaetano, G.; Zedde, M.; Marcheselli, S.; Silvestrelli, G.; Ciccone, A.; Delodovici, M. L.; Princiotta Cariddi, L.; Giossi, A.; Zini, A.; Paciaroni, M.; Acciarresi, M.; Azzini, C.; De Vito, A.; Gamba, M.; Magoni, M.; Del Sette, M.; Toriello, A.; Gandolfo, C.; Finocchi, C.; Bonifati, D. M.; Tassi, R.; Martini, G.; Cavallini, A.; Morotti, A.; Bonacina, S.; Mazzoleni, V.; Pezzini, D.; Chiti, A.; Calabro, R. S.; Musolino, R.; La Spina, P.; Grillo, F.; Tomelleri, G.; Lodigiani, C.; Ritelli, M.; Colombi, M.; Padovani, A.; Pezzini, A.
Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy 1-gen-2018 Costa, P.; Grassi, M.; Iacoviello, L.; Zedde, M.; Marcheselli, S.; Silvestrelli, G.; Delodovici, M. L.; Sessa, M.; Zini, A.; Paciaroni, M.; Azzini, C.; Gamba, M.; Del Sette, M.; Toriello, A.; Gandolfo, C.; Bonifati, D. M.; Tassi, R.; Cavallini, A.; Chiti, A.; Calabro, R. S.; Grillo, F.; Bovi, P.; Tomelleri, G.; Di Castelnuovo, A.; Ritelli, M.; Agnelli, G.; De Vito, A.; Pugliese, N.; Martini, G.; Lodigiani, C.; Morotti, A.; Poli, L.; Degiuli, V.; Caria, F.; Cornali, C.; Degaetano, G.; Colombi, M.; Padovani, A.; Pezzini, A.
Altered fibronectin RNA splicing in skin fibroblasts from Ehlers-Danlos syndrome patients: in situ hybridization analysis. 1-gen-1991 Colombi, Marina; Moro, L; Zoppi, Nicoletta; Ghinelli, A; Barlati, Sergio