11573/1348935 - 2019 -
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'agruma, L; Castori, M. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 24-36 - issn: 1059-7794 - wos: WOS:000491484200002 (5) - scopus: 2-s2.0-85073667398 (5)
11573/1348926 - 2019 -
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas.
insights into molecular properties of selected exostosin variants 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. - 01a Articolo in rivista
rivista: HUMAN MOLECULAR GENETICS (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 2133-2142 - issn: 0964-6906 - wos: WOS:000474259700003 (11) - scopus: 2-s2.0-85067547214 (12)
11573/1348946 - 2019 -
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. 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. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1886-1898 - issn: 1059-7794 - wos: WOS:000473598200001 (6) - scopus: 2-s2.0-85072718396 (5)
11573/1348997 - 2019 -
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway Palumbo, P; Petracca, A; Maggi, R; Biagini, T; Nardella, G; Sacco, Mc; Di Schiavi, E; Carella, M; Micale, L; Castori, M. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 1113-1120 - issn: 1018-4813 - wos: WOS:000471871000013 (11) - scopus: 2-s2.0-85061924172 (13)
11573/1349024 - 2018 -
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. 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. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1885-1900 - issn: 1059-7794 - wos: WOS:000451194400013 (15) - scopus: 2-s2.0-85053737930 (15)