Sfoglia per Autore
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
2018 Nardella, G; Visci, G; Guarnieri, V; Castellana, S; Biagini, T; Bisceglia, L; Palumbo, O; Trivisano, M; Vaira, C; Scerrati, M; Debrasi, D; D'Angelo, V; Carella, M; Merla, G; Mazza, T; Castori, M; D'Agruma, L; Fusco, C.
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations
2019 Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
2019 Palumbo, P; Petracca, A; Maggi, R; Biagini, T; Nardella, G; Sacco, Mc; Di Schiavi, E; Carella, M; Micale, L; Castori, M.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants
2019 Fusco, C; Nardella, Grazia; Fischetto, R; Copetti, M; Petracca, A; Annunziata, F; Augello, B; D'Asdia, Mc; Petrucci, S; Mattina, T; Rella, A; Cassina, M; Bengala, M; Biagini, T; Causio, Fa; Caldarini, C; Brancati, F; De Luca, A; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.
2019 Morlino, S; Carbone, A; Ritelli, M; Fusco, C; Giambra, V; Nardella, G; Notarangelo, A; Panelli, P; Mazzoccoli, G; Zoppi, N; Grammatico, P; Wade, EM; Colombi, M; Castori, M; Micale, L.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. | 2018 | Nardella, G; Visci, G; Guarnieri, V; Castellana, S; Biagini, T; Bisceglia, L; Palumbo, O; Trivisano, M; Vaira, C; Scerrati, M; Debrasi, D; D'Angelo, V; Carella, M; Merla, G; Mazza, T; Castori, M; D'Agruma, L; Fusco, C. | |
| Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations | 2019 | Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M. | |
| A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway | 2019 | Palumbo, P; Petracca, A; Maggi, R; Biagini, T; Nardella, G; Sacco, Mc; Di Schiavi, E; Carella, M; Micale, L; Castori, M. | |
| Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants | 2019 | Fusco, C; Nardella, Grazia; Fischetto, R; Copetti, M; Petracca, A; Annunziata, F; Augello, B; D'Asdia, Mc; Petrucci, S; Mattina, T; Rella, A; Cassina, M; Bengala, M; Biagini, T; Causio, Fa; Caldarini, C; Brancati, F; De Luca, A; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M. | |
| TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. | 2019 | Morlino, S; Carbone, A; Ritelli, M; Fusco, C; Giambra, V; Nardella, G; Notarangelo, A; Panelli, P; Mazzoccoli, G; Zoppi, N; Grammatico, P; Wade, EM; Colombi, M; Castori, M; Micale, L. |
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