Sfoglia per Autore
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects
2006-01-01 Drera, Bruno Angelo; Castiglia, D; Zoppi, Nicoletta; Gardella, Rita; Tadini, G; Pedicelli, C; Barlati, Sergio; Zambruno, G; Colombi, Marina
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B
2006-01-01 Drera, Bruno Angelo; Zoppi, Nicoletta; Barlati, Sergio; Colombi, Marina
Ischemic stroke in an adolescent with arterial tortuosity syndrome.
2007-01-01 Drera, Bruno Angelo; Barlati, Sergio; Colombi, Marina
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
2008-01-01 Drera, Bruno Angelo; Tadini, G; Balbo, F; Marchese, L; Barlati, Sergio; Colombi, Marina
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype
2008-01-01 Drera, Bruno Angelo; Tadini, G; Barlati, Sergio; Colombi, Marina
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa.
2009-01-01 Drera, Bruno Angelo; Floriddia, G; Forzano, F; Barlati, Sergio; Zambruno, G; Colombi, Marina; Castiglia, D.
Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells.
2010-01-01 Zoppi, Nicoletta; Ritelli, Marco Giuseppe; Chiarelli, Nicola; Drera, Bruno Angelo; Barlati, Sergio; Colombi, Marina
Linee guida. Diagnosi delle epidermolisi bollose ereditarie.
2011-01-01 Angelo, C.; Barlati, Sergio; Bonifazi, E.; Castiglia, D.; Castori, M.; Colombi, Marina; Dalla Piccola, B.; Diaociaiuti, A.; Drera, Bruno Angelo; El Hachem, M.; Picozzi, M.; Polizzi, A.; Salerno, P.; Tadini, G.; Villani, A.; Zambruno, G.; Zotti, P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects | 1-gen-2006 | Drera, Bruno Angelo; Castiglia, D; Zoppi, Nicoletta; Gardella, Rita; Tadini, G; Pedicelli, C; Barlati, Sergio; Zambruno, G; Colombi, Marina | |
| Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B | 1-gen-2006 | Drera, Bruno Angelo; Zoppi, Nicoletta; Barlati, Sergio; Colombi, Marina | |
| Ischemic stroke in an adolescent with arterial tortuosity syndrome. | 1-gen-2007 | Drera, Bruno Angelo; Barlati, Sergio; Colombi, Marina | |
| De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma. | 1-gen-2008 | Drera, Bruno Angelo; Tadini, G; Balbo, F; Marchese, L; Barlati, Sergio; Colombi, Marina | |
| Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype | 1-gen-2008 | Drera, Bruno Angelo; Tadini, G; Barlati, Sergio; Colombi, Marina | |
| Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. | 1-gen-2009 | Drera, Bruno Angelo; Floriddia, G; Forzano, F; Barlati, Sergio; Zambruno, G; Colombi, Marina; Castiglia, D. | |
| Modulation of the facilitative glucose transporters (SLC2A) gene family expression in arterial tortuosity syndrome skin fibroblasts and aortic vascular smooth muscle cells. | 1-gen-2010 | Zoppi, Nicoletta; Ritelli, Marco Giuseppe; Chiarelli, Nicola; Drera, Bruno Angelo; Barlati, Sergio; Colombi, Marina | |
| Linee guida. Diagnosi delle epidermolisi bollose ereditarie. | 1-gen-2011 | Angelo, C.; Barlati, Sergio; Bonifazi, E.; Castiglia, D.; Castori, M.; Colombi, Marina; Dalla Piccola, B.; Diaociaiuti, A.; Drera, Bruno Angelo; El Hachem, M.; Picozzi, M.; Polizzi, A.; Salerno, P.; Tadini, G.; Villani, A.; Zambruno, G.; Zotti, P. |
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