BALLABIO, ANDREA
BALLABIO, ANDREA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
2004 Cosma, Mp; Pepe, S; Parenti, Giancarlo; Settembre, Carmine; Annunziata, I; WADE MARTINS, R; Di, ; Domenico, C; DI NATALE, P; Mankad, A; Cox, B; Uziel, G; Mancini, Gm; Zammarchi, E; Donati, Ma; Kleijer, Wj; Filocamo, M; Carrozzo, R; Carella, M; Ballabio, Andrea
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.
1987 Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; Andria, Generoso
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
1987 Ballabio, Andrea; Sebastio, Gianfranco; Carrozzo, R; Parenti, Giancarlo; Piccirillo, A; Persico, Mg; Andria, Generoso
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
2003 Marconi, R; DE FUSCO, M; Aridon, P; Plewnia, K; Rossi, M; Carapelli, S; Ballabio, Andrea; Morgante, L; Musolino, R; Micieli, G; DE MICHELE, Giuseppe; Casari, G.
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus
1996 Muroya, K; Ogata, T; Matsuo, N; Nagai, T; Franco, Brunella; Ballabio, Andrea; Rappold, G; Sakura, N. AND FUKUSHIMA Y.
Microphthalmia transcription factor controls expression of the Ocular albinism type 1 gene.
2004 Vetrini, F.; Auricchio, Alberto; Du, J.; Angeletti, B.; Fisherl, D. E.; Ballabio, Andrea; Marigo, V.
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
2005 Sardiello, M.; Annunziata, I.; Roma, G.; Ballabio, Andrea
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non inbred population.
1996 Auricchio, Alberto; Casari, G.; Staiano, Annamaria; Ballabio, Andrea
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase
2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, G; Parenti, Giancarlo
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
2003 Cosma, Mp; Pepe, S; Annunziata, I; Newbold, Rf; Grompe, M; Parenti, Giancarlo; Ballabio, Andrea
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome
1986 Ballabio, Andrea; Parenti, Giancarlo; Tippett, P; Mondello, C; DI MAIO, S; Tenore, A; Andria, Generoso
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
PCR test for cystic fibrosis deletion.
1990 Ballabio, Andrea; Gibbs, R. A.; Caskey, C. T.
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
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.
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.
Derangement of mannose-6-phosphate receptor trafficking impairs lysosomal enzyme uptake in fibroblasts from lysosomal storage diseases
2008 Cardone, M; Porto, C; Tarallo, A; Rossi, B; Tuzzi, Mr; Donaudy, F; Fontana, F; Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo
Lysosomal disorders: From storage to cellular damage
2009 Ballabio, Andrea; Gieselmann, V.
MicroRNA target prediction by expression analysis of host genes.
2009 Gennarino, Va; Sardiello, M; Avellino, R; Meola, N; Maselli, V; Anand, S; Cutillo, L; Ballabio, Andrea; Banfi, S.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency | 1.1 Articolo in rivista | 2004 | Cosma, Mp; Pepe, S; Parenti, Giancarlo; Settembre, Carmine; Annunziata, I; WADE MARTINS, R; Di, ; Domenico, C; DI NATALE, P; Mankad, A; Cox, B; Uziel, G; Mancini, Gm; Zammarchi, E; Donati, Ma; Kleijer, Wj; Filocamo, M; Carrozzo, R; Carella, M; Ballabio, Andrea | |
| Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. | 1.1 Articolo in rivista | 1987 | Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; Andria, Generoso | |
| Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome | 1.1 Articolo in rivista | 1987 | Ballabio, Andrea; Sebastio, Gianfranco; Carrozzo, R; Parenti, Giancarlo; Piccirillo, A; Persico, Mg; Andria, Generoso | |
| Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. | 1.1 Articolo in rivista | 2003 | Marconi, R; DE FUSCO, M; Aridon, P; Plewnia, K; Rossi, M; Carapelli, S; Ballabio, Andrea; Morgante, L; Musolino, R; Micieli, G; DE MICHELE, Giuseppe; Casari, G. | |
| Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus | 1.1 Articolo in rivista | 1996 | Muroya, K; Ogata, T; Matsuo, N; Nagai, T; Franco, Brunella; Ballabio, Andrea; Rappold, G; Sakura, N. AND FUKUSHIMA Y. | |
| Microphthalmia transcription factor controls expression of the Ocular albinism type 1 gene. | 1.1 Articolo in rivista | 2004 | Vetrini, F.; Auricchio, Alberto; Du, J.; Angeletti, B.; Fisherl, D. E.; Ballabio, Andrea; Marigo, V. | |
| Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. | 1.1 Articolo in rivista | 2005 | Sardiello, M.; Annunziata, I.; Roma, G.; Ballabio, Andrea | |
| Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non inbred population. | 1.1 Articolo in rivista | 1996 | Auricchio, Alberto; Casari, G.; Staiano, Annamaria; Ballabio, Andrea | |
| Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase | 1.1 Articolo in rivista | 2002 | BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, G; Parenti, Giancarlo | |
| The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases | 1.1 Articolo in rivista | 2003 | Cosma, Mp; Pepe, S; Annunziata, I; Newbold, Rf; Grompe, M; Parenti, Giancarlo; Ballabio, Andrea | |
| X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome | 1.1 Articolo in rivista | 1986 | Ballabio, Andrea; Parenti, Giancarlo; Tippett, P; Mondello, C; DI MAIO, S; Tenore, A; Andria, Generoso | |
| 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 | |
| PCR test for cystic fibrosis deletion. | 1.1 Articolo in rivista | 1990 | Ballabio, Andrea; Gibbs, R. A.; Caskey, C. T. | |
| 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 | |
| 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. | |
| 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. | |
| Derangement of mannose-6-phosphate receptor trafficking impairs lysosomal enzyme uptake in fibroblasts from lysosomal storage diseases | 1.5 Abstract in rivista | 2008 | Cardone, M; Porto, C; Tarallo, A; Rossi, B; Tuzzi, Mr; Donaudy, F; Fontana, F; Andria, Generoso; Ballabio, Andrea; Parenti, Giancarlo | |
| Lysosomal disorders: From storage to cellular damage | 1.1 Articolo in rivista | 2009 | Ballabio, Andrea; Gieselmann, V. | |
| MicroRNA target prediction by expression analysis of host genes. | 1.1 Articolo in rivista | 2009 | Gennarino, Va; Sardiello, M; Avellino, R; Meola, N; Maselli, V; Anand, S; Cutillo, L; Ballabio, Andrea; Banfi, S. |