BALLABIO, ANDREA

BALLABIO, ANDREA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 1.1 Articolo in rivista 2004 Ferreirinha, F; Quattrini, A; Pirozzi, M; Valsecchi, V; Dina, G; Broccoli, V; Piemonte, F; Tozzi, G; Gaeta, L; Casari, G; Ballabio, Andrea; AND RUGARLI, E. I.
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders 1.1 Articolo in rivista 2009 Ballabio, Andrea
Lysosomal disorders: From storage to cellular damage 1.1 Articolo in rivista 2009 Ballabio, Andrea; Gieselmann, V.
Contiguous gene syndromes due todeletions in the distal short arm of the human X chromosome. 1.1 Articolo in rivista 1989 Ballabio, Andrea; Bardoni, B; Carrozzo, R; Andria, Generoso; Bick, D; Campbell, L; Hamel, B; Ferguson Smith, Ma; Gimelli, G; Fraccaro, M.
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. 1.1 Articolo in rivista 1991 Brown, Cj; Ballabio, Andrea; Rupert, Jl; Lafreniere, Rg; Grompe, M; Tonlorenzi, R; Willard, Hf
PCR test for cystic fibrosis deletion. 1.1 Articolo in rivista 1990 Ballabio, Andrea; Gibbs, R. A.; Caskey, C. T.
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. 1.1 Articolo in rivista 1991 Franco, Brunella; Guioli, S; Pragliola, A; Incerti, B; Bardoni, B; Tonlorenzi, R; Carrozzo, R; Maestrini, E; Pieretti, M; Taillon Miller, P; Brown, Cj; Willard, Hf; Lawrence, C; Graziella Persico, M; Camerino, G; Ballabio, Andrea
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. 1.1 Articolo in rivista 1987 Ballabio, Andrea; Parenti, G; Carrozzo, R; Sebastio, G; Andria, G; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G.
Characterization of a murine gene expressed from the inactive X chromosome. 1.1 Articolo in rivista 1991 Borsani, G; Tonlorenzi, R; Simmler, Mc; Dandolo, L; Arnaud, D; Capra, V; Grompe, M; Pizzuti, A; Muzny, D; Lawrence, C; Willard, Hf; Avner, P; Ballabio, Andrea
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 1.1 Articolo in rivista 1998 G., Casari; M. D., Fusco; S., Ciarmatori; M., Zeviani; M., Mora; P., Fernandez; DE MICHELE, Giuseppe; Filla, Alessandro; Cocozza, Sergio; R., Marconi; A., Dürr; B., Fontaine; Ballabio, Andrea
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2 1.1 Articolo in rivista 2010 Romito, A; Lonardo, E; Roma, G; Minchiotti, G; Ballabio, Andrea; Cobellis, G.
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. 1.1 Articolo in rivista 1998 Montini, E; Andolfi, G; Caruso, A; Buchner, G; Walpole, S. M.; Mariani, M; Consalez, G. G.; Trump, D; Ballabio, Andrea; Franco, Brunella
Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. 1.1 Articolo in rivista 2000 Surace, Enrico Maria; Angeletti, B; Ballabio, Andrea; Marigo, V.
The rise and fall of positional cloning? 1.1 Articolo in rivista 1993 Ballabio, Andrea
Bringing Kallmann syndrome into focus. 1.1 Articolo in rivista 1993 Bick, D. P.; Ballabio, Andrea
Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 1.1 Articolo in rivista 2007 Zampino, G; Pantaleoni, F; Carta, C; Cobellis, G; Vasta, I; Neri, C; Pogna, E. A.; DE FEO, E; Delogu, A; Sarkozy, A; Atzeri, F; Selicorni, A; Rauen, K. A.; Cytrynbaum, C. S.; Weksberg, R; Dallapiccola, B; Ballabio, Andrea; Gelb, B. D.; Neri, G; Tartaglia, M.
Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. 1.1 Articolo in rivista 1994 Lutz, B; Kuratani, S; Rugarli, E. I.; Wawersik, S; Wong, C; Bieber, F. R.; Ballabio, Andrea; Eichele, G.
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. 1.1 Articolo in rivista 1994 Wapenaar, M. C.; Schiaffino, M. V.; Bassi, M. T.; Schaefer, L; Chinault, A. C.; Zoghbi, H. Y.; Ballabio, Andrea
Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. 1.1 Articolo in rivista 1999 Ahmad, W; DE FUSCO, M; FAIYAZ UL HAQUE, M; Aridon, P; Sarno, T; Sohail, M; UL HAQUE, S; Ahmad, M; Ballabio, Andrea; Franco, Brunella; Casari, G.
Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. 1.1 Articolo in rivista 1994 Leach, R. J.; Chinn, R; Reus, B. E.; Hayes, S; Schantz, L; Dubois, B; Overhauser, J; Ballabio, Andrea; Drabkin, H; Lewis, T. B.; Mendgen, G; Naylor, S. L.