BALLABIO, ANDREA
BALLABIO, ANDREA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
Studying a Multiple Sulfatases Deficiency animal model
2006 Ballabio, Andrea
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.
1999 Bassi, M. T.; Ramesar, R. S.; Caciotti, B; Winship, I. M.; DE GRANDI, A; Riboni, M; Townes, P. L.; Beighton, P; Ballabio, Andrea; Borsani, G.
Methods and compositions for recovering or improving visual function
2006 Auricchio, Alberto; Surace, E. M.; Ballabio, Andrea
The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy.
2000 Fusco, M. D.; Becchetti, A; Patrignani, A; Annesi, G; Gambardella, A; Quattrone, A; Ballabio, Andrea; Wanke, E; Casari, G.
A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells.
1998 Petrella, A; Doti, I; Agosti, V; CARANDENTE GIARRUSSO, P; Vitale, D; Bond, H. M.; Cuomo, C; Barbieri, V; Franco, Brunella; Ballabio, Andrea; Venuta, S; Morrone, G.
Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation.
2002 Parenti, Giancarlo; BRUNETTI PIERRI, Nicola; Corso, G.; Rossi, M.; Annunziata, I.; Battagliese, A.; Ferrari, P.; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, Generoso
Effective retroviral-mediated gene transfer in normal and mutant human melanocytes.
2002 Schiaffino, M. V.; Dellambra, E; Cortese, K; Baschirotto, C; Bondanza, S; Clementi, M; Nucci, P; Ballabio, Andrea; Tacchetti, C; AND DE LUCA, M.
The Ocular Albinism type 1 (OA1) gene product is a membrane glycoprotein localized to melanosomes.
1996 Schiaffino, M. V.; Baschirotto, C; Pellegrini, G; Montalti, S; Tacchetti, C; DE LUCA, M; Ballabio, Andrea
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region.
1997 Puca, A. A.; Zollo, Massimo; Repetto, M; Andolfi, G; Guffanti, A; Simon, G; Ballabio, Andrea; Franco, Brunella
A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin
1997 E., Montini; E., Rugarli; E., VAN DE VOSSE; G., Andolfi; M., Mariani; Aa, Puca; G., Consales; JT DEN, Dunnen; Ballabio, Andrea; Franco, Brunella
Cloning and characterization of a candidate gene for Kallmann syndrome on Xp22.3.
1991 Franco, Brunella; A., Pragliola; R., Tonlorenzi; B., Incerti; R., Carrozzo; G., Persico; Ballabio, Andrea
Non-type I cystinuria caused by mutation in SLC7A9, encoding a subunit (bo,+ AT) of rBAT.
1999 INTERNATIONAL CYSTINURIA, Consortium; Group, D. BASSI M. T.; GEORGE A. L., Jr; Manzoni, M; De, ; Grandi, A; Riboni, M; Endesley, J. K.; Ballabio, Andrea; Borsani, G.
A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells
1998 A., Petrella; I., Doti; V., Agosti; P., CARADENTE GIARRUSSO; D., Vitale; Hm, Bond; C., Cuomo; V., Barbieri; Franco, Brunella; Ballabio, Andrea; S., Venuta; G., Morrone
Characterization of 717A-X, a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
1998 L., DE CONCILIIS; A., Marchitiello; Mc, Wapenaar; G., Borsani; S., Giglio; M., Mariani; Gg, Consalez; O., Zuffardi; Franco, Brunella; Ballabio, Andrea; S., Banfi
Cloning of the murine homologue of the Ocular Albinism type 1 (OA1) gene: sequence, genomic structure and expression analysis in pigment cells.
1996 Bassi, M. T.; Incerti, B; Easty, D. J.; Sviderskaya, E. V.; Ballabio, Andrea
Comparative mapping of Xp22 genes in hominoids - evolutionary linear instability of their Y homologs.
1997 Glser, B; Grtzner, F; Taylor, K; Schiebel, K; Meroni, G; Tsioupra, K; Pasantes, J; Rietschel, W; Toder, R; Willmann, U; Zeitler, S; Yen, P; Ballabio, Andrea; Rappold, G; Schempp, W.
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein associated amino acid transporter family.
1999 Bassi, M. T.; Sperandeo, M. P.; Incerti, B; Bulfone, A; Pepe, A; Surace, Enrico Maria; Gattuso, C; De, Grandi; A, ; Buoninconti, A; Riboni, M; Manzoni, M; Andria, G; Ballabio, Andrea; Borsani, G; Sebastio, G.
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.
1995 Schiaffino, M. V.; Bassi, M. T.; Rugarli, E. I.; Renieri, A; Galli, L; Ballabio, Andrea
A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22
1997 N., Quaderi; S., Schweiger; K., Gaudenz; Franco, Brunella; E., Rugarli; W., Berger; G., Feldman; M., Volta; G., Andolfi; S., Gilgenkrantz; R., Marion; Rcm, Hennekam; Jm, Opitz; M., Muenke; Hh, Ropers; Ballabio, Andrea
Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics
2005 M., Morleo; T., Pramparo; L., Perone; G., Gregato; C., LE CAIGNEC; Rf, Mueller; T., Ogata; A., RAAS ROTHSCHILD; M., CHRISTINE DE BLOIS; Lc, Wilson; G., Zaidman; O., Zuffardi; Ballabio, Andrea; Franco, Brunella
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Studying a Multiple Sulfatases Deficiency animal model | 8.07 Progetti di Ricerca Finanziati | 2006 | Ballabio, Andrea | |
| X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. | 1.1 Articolo in rivista | 1999 | Bassi, M. T.; Ramesar, R. S.; Caciotti, B; Winship, I. M.; DE GRANDI, A; Riboni, M; Townes, P. L.; Beighton, P; Ballabio, Andrea; Borsani, G. | |
| Methods and compositions for recovering or improving visual function | 6.1 Brevetto | 2006 | Auricchio, Alberto; Surace, E. M.; Ballabio, Andrea | |
| The nicotinic receptor beta2 subunit is mutant in nocturnal frontal lobe epilepsy. | 1.1 Articolo in rivista | 2000 | Fusco, M. D.; Becchetti, A; Patrignani, A; Annesi, G; Gambardella, A; Quattrone, A; Ballabio, Andrea; Wanke, E; Casari, G. | |
| A 5’ regulatory sequence containing two Ets motifs controls the expression of the Wiskott Aldrich syndrome protein (WASP) gene in human haematopoietic cells. | 1.1 Articolo in rivista | 1998 | Petrella, A; Doti, I; Agosti, V; CARANDENTE GIARRUSSO, P; Vitale, D; Bond, H. M.; Cuomo, C; Barbieri, V; Franco, Brunella; Ballabio, Andrea; Venuta, S; Morrone, G. | |
| Lathosterolemia: a novel defect of cholesterol biosynthesis in humans associated with congenital multiple malformations and mental retardation. | 1.5 Abstract in rivista | 2002 | Parenti, Giancarlo; BRUNETTI PIERRI, Nicola; Corso, G.; Rossi, M.; Annunziata, I.; Battagliese, A.; Ferrari, P.; Ballabio, Andrea; DELLO RUSSO, Antonio; Andria, Generoso | |
| Effective retroviral-mediated gene transfer in normal and mutant human melanocytes. | 1.1 Articolo in rivista | 2002 | Schiaffino, M. V.; Dellambra, E; Cortese, K; Baschirotto, C; Bondanza, S; Clementi, M; Nucci, P; Ballabio, Andrea; Tacchetti, C; AND DE LUCA, M. | |
| The Ocular Albinism type 1 (OA1) gene product is a membrane glycoprotein localized to melanosomes. | 1.1 Articolo in rivista | 1996 | Schiaffino, M. V.; Baschirotto, C; Pellegrini, G; Montalti, S; Tacchetti, C; DE LUCA, M; Ballabio, Andrea | |
| Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region. | 1.1 Articolo in rivista | 1997 | Puca, A. A.; Zollo, Massimo; Repetto, M; Andolfi, G; Guffanti, A; Simon, G; Ballabio, Andrea; Franco, Brunella | |
| A human homolog of the Drosophila retinal degeneration C (rdgC) gene encodes a novel serine threonine phosphatase selectively expressed in sensory neurons of neural crest origin | 1.1 Articolo in rivista | 1997 | E., Montini; E., Rugarli; E., VAN DE VOSSE; G., Andolfi; M., Mariani; Aa, Puca; G., Consales; JT DEN, Dunnen; Ballabio, Andrea; Franco, Brunella | |
| Cloning and characterization of a candidate gene for Kallmann syndrome on Xp22.3. | 4.1 Articoli in Atti di convegno | 1991 | Franco, Brunella; A., Pragliola; R., Tonlorenzi; B., Incerti; R., Carrozzo; G., Persico; Ballabio, Andrea | |
| Non-type I cystinuria caused by mutation in SLC7A9, encoding a subunit (bo,+ AT) of rBAT. | 1.1 Articolo in rivista | 1999 | INTERNATIONAL CYSTINURIA, Consortium; Group, D. BASSI M. T.; GEORGE A. L., Jr; Manzoni, M; De, ; Grandi, A; Riboni, M; Endesley, J. K.; Ballabio, Andrea; Borsani, G. | |
| A regulatory element within the 5’ flanking sequence of the Wiskott-Aldrich syndrome (WASP) gene controls expression in human hematopoietic cells | 1.1 Articolo in rivista | 1998 | A., Petrella; I., Doti; V., Agosti; P., CARADENTE GIARRUSSO; D., Vitale; Hm, Bond; C., Cuomo; V., Barbieri; Franco, Brunella; Ballabio, Andrea; S., Venuta; G., Morrone | |
| Characterization of 717A-X, a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains | 1.1 Articolo in rivista | 1998 | L., DE CONCILIIS; A., Marchitiello; Mc, Wapenaar; G., Borsani; S., Giglio; M., Mariani; Gg, Consalez; O., Zuffardi; Franco, Brunella; Ballabio, Andrea; S., Banfi | |
| Cloning of the murine homologue of the Ocular Albinism type 1 (OA1) gene: sequence, genomic structure and expression analysis in pigment cells. | 1.1 Articolo in rivista | 1996 | Bassi, M. T.; Incerti, B; Easty, D. J.; Sviderskaya, E. V.; Ballabio, Andrea | |
| Comparative mapping of Xp22 genes in hominoids - evolutionary linear instability of their Y homologs. | 1.1 Articolo in rivista | 1997 | Glser, B; Grtzner, F; Taylor, K; Schiebel, K; Meroni, G; Tsioupra, K; Pasantes, J; Rietschel, W; Toder, R; Willmann, U; Zeitler, S; Yen, P; Ballabio, Andrea; Rappold, G; Schempp, W. | |
| SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein associated amino acid transporter family. | 1.1 Articolo in rivista | 1999 | Bassi, M. T.; Sperandeo, M. P.; Incerti, B; Bulfone, A; Pepe, A; Surace, Enrico Maria; Gattuso, C; De, Grandi; A, ; Buoninconti, A; Riboni, M; Manzoni, M; Andria, G; Ballabio, Andrea; Borsani, G; Sebastio, G. | |
| Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. | 1.1 Articolo in rivista | 1995 | Schiaffino, M. V.; Bassi, M. T.; Rugarli, E. I.; Renieri, A; Galli, L; Ballabio, Andrea | |
| A defect of midline development, Opitz syndrome, is due to mutations in a novel RING finger gene on Xp22 | 1.1 Articolo in rivista | 1997 | N., Quaderi; S., Schweiger; K., Gaudenz; Franco, Brunella; E., Rugarli; W., Berger; G., Feldman; M., Volta; G., Andolfi; S., Gilgenkrantz; R., Marion; Rcm, Hennekam; Jm, Opitz; M., Muenke; Hh, Ropers; Ballabio, Andrea | |
| Microphthalmia with Linear Skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases. American Journal Medical Genetics | 1.1 Articolo in rivista | 2005 | M., Morleo; T., Pramparo; L., Perone; G., Gregato; C., LE CAIGNEC; Rf, Mueller; T., Ogata; A., RAAS ROTHSCHILD; M., CHRISTINE DE BLOIS; Lc, Wilson; G., Zaidman; O., Zuffardi; Ballabio, Andrea; Franco, Brunella |