BALLABIO, ANDREA
BALLABIO, ANDREA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
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
2009 Ballabio, Andrea
Lysosomal disorders: From storage to cellular damage
2009 Ballabio, Andrea; Gieselmann, V.
Contiguous gene syndromes due todeletions in the distal short arm of the human X chromosome.
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.
1991 Brown, Cj; Ballabio, Andrea; Rupert, Jl; Lafreniere, Rg; Grompe, M; Tonlorenzi, R; Willard, Hf
PCR test for cystic fibrosis deletion.
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.
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
Localization of the X inactivation centre on the human X chromosome in Xq13.
1991 Brown, Cj; Lafreniere, Rg; Powers, Ve; Sebastio, G; Ballabio, Andrea; Pettigrew, Al; Ledbetter, Dh; Levy, E; Craig, Iw; Willard, H. F.
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.
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.
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.
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
2010 Romito, A; Lonardo, E; Roma, G; Minchiotti, G; Ballabio, Andrea; Cobellis, G.
Evidence for interaction between human PRUNE and nm23-H1 NDPKinase.
1999 Reymond, A; Volorio, S; Merla, G; Almaghtheh, M; Zuffardi, O; Bulfone, A; Ballabio, Andrea; Zollo, Massimo
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
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.
2000 Surace, Enrico Maria; Angeletti, B; Ballabio, Andrea; Marigo, V.
The rise and fall of positional cloning?
1993 Ballabio, Andrea
Bringing Kallmann syndrome into focus.
1993 Bick, D. P.; Ballabio, Andrea
Diversity, parental germline origin and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
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.
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.
1994 Wapenaar, M. C.; Schiaffino, M. V.; Bassi, M. T.; Schaefer, L; Chinault, A. C.; Zoghbi, H. Y.; Ballabio, Andrea
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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 | |
| Localization of the X inactivation centre on the human X chromosome in Xq13. | 1.1 Articolo in rivista | 1991 | Brown, Cj; Lafreniere, Rg; Powers, Ve; Sebastio, G; Ballabio, Andrea; Pettigrew, Al; Ledbetter, Dh; Levy, E; Craig, Iw; Willard, H. F. | |
| 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. | |
| Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. | 1.1 Articolo in rivista | 1999 | Reymond, A; Volorio, S; Merla, G; Almaghtheh, M; Zuffardi, O; Bulfone, A; Ballabio, Andrea; Zollo, Massimo | |
| 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 |