Sfoglia per Autore
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
2015 Castori, M; Dordoni, C; Morlino, Silvia; Sperduti, I; Ritelli, M; Valiante, M; Chiarelli, N; Zanca, A; Celletti, C; Venturini, M; Camerota, F; Calzavara-Pinton, P; Grammatico, P; Colombi, M.
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology
2017 Piceci, F.; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V.
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder
2018 Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco
LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
2019 Morlino, Silvia; Alesi, Viola; Calì, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
2020 Micale, L.; Morlino, S.; Biagini, T.; Carbone, A.; Fusco, C.; Ritelli, M.; Giambra, V.; Zoppi, N.; Nardella, G.; Notarangelo, A.; Schirizzi, A.; Mazzoccoli, G.; Grammatico, P.; Wade, E. M.; Mazza, T.; Colombi, M.; Castori, M.
Hereditary connective tissue disorders: novel genotype-phenotype correlations, disease-genes and pathogenetic factors affecting disability
2020 Morlino, Silvia
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. | 2015 | Castori, M; Dordoni, C; Morlino, Silvia; Sperduti, I; Ritelli, M; Valiante, M; Chiarelli, N; Zanca, A; Celletti, C; Venturini, M; Camerota, F; Calzavara-Pinton, P; Grammatico, P; Colombi, M. | |
| Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology | 2017 | Piceci, F.; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V. | |
| Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder | 2018 | Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco | |
| LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant | 2019 | Morlino, Silvia; Alesi, Viola; Calì, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar | |
| Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy | 2020 | Micale, L.; Morlino, S.; Biagini, T.; Carbone, A.; Fusco, C.; Ritelli, M.; Giambra, V.; Zoppi, N.; Nardella, G.; Notarangelo, A.; Schirizzi, A.; Mazzoccoli, G.; Grammatico, P.; Wade, E. M.; Mazza, T.; Colombi, M.; Castori, M. | |
| Hereditary connective tissue disorders: novel genotype-phenotype correlations, disease-genes and pathogenetic factors affecting disability | 2020 | Morlino, Silvia |
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