BALLABIO, ANDREA
BALLABIO, ANDREA
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability
2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
1999 Borsani, G.; Bassi, Mt; Sperandeo, Mp; DE GRANDI, A.; Buoninconti, A.; Riboni, M.; Manzoni, M.; Incerti, B.; Andria, Generoso; Ballabio, Andrea; Sebastio, G.
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non inbred population.
1996 Auricchio, Alberto; Casari, G.; Staiano, Annamaria; Ballabio, Andrea
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
2007 Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco
Steroid Sulfatase Deficiency and X-linked Ichthyosis.
1995 Ballabio, Andrea; Shapiro, L. J.
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.
1989 Ballabio, Andrea; R., Carrozzo; G., Parenti; A., Gil; Zollo, Massimo; M. G., Persico; E., Gillard; N., Affara; J., Yates; M. A., FERGUSON SMITH
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
1991 Ballabio, A; Zollo, Massimo; R., Carrozzo; A., Caiulo; O., Zuffardi; C. F., Cascioli; D., Viggiano; Strisciuglio, Pietro
Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification.
1990 Ballabio, Andrea; Ranier, J. E.; Chamberlain, J. S.; Zollo, Massimo; Caskey, C. T.
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.
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
2008 Yiş, U.; Pepe, S.; Kurul, S. H.; Ballabio, Andrea; Cosma, M. P.; Dirik, E.
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.
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
1991 Ballabio, Andrea; Zollo, Massimo; Carrozzo, R; Caiulo, A; Zuffardi, O; Cascioli, Cf; Viggiano, D; Strisciuglio, Pietro
Lysosomal disorders: From storage to cellular damage
2009 Ballabio, Andrea; Gieselmann, V.
Lysosomal enhancement: a CLEAR answer to cellular degradative needs
2009 Sardiello, M.; Ballabio, Andrea
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders
2009 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.
In vivo doxycycline controlled regulated system in photoreceptor cells.
2003 Angeletti, B.; Löster, J.; Auricchio, Alberto; Ballabio, Andrea; Graw, J.; Marigo, V.
Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene?
1987 Fraser, N; Ballabio, Andrea; Zollo, Massimo; Persico, G; Craig, I.
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
1996 Renieri, A; Bruttini, M; Galli, L; Zanelli, P; Neri, T; Rossetti, S; Turco, A; Heiskari, N; Zhou, J; Gusmano, R; Massella, L; Banfi, G; Scolari, F; Sessa, A; Rizzoni, G; Tryggvason, K; Pignatti, P. F.; Savi, M; Ballabio, Andrea; DE MARCHI, M.
Expression pattern of the Tbr-2 (Eomesodermin) gene during mouse and chick brain development.
1999 Bulfone, A; Martinez, S; Marigo, V; Campanella, M; Basile, A; Quaderi, N; Gattuso, C; Rubenstein, J. L. R.; Ballabio, Andrea
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability | 1.1 Articolo in rivista | 2003 | BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G. | |
| SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. | 1.1 Articolo in rivista | 1999 | Borsani, G.; Bassi, Mt; Sperandeo, Mp; DE GRANDI, A.; Buoninconti, A.; Riboni, M.; Manzoni, M.; Incerti, B.; Andria, Generoso; Ballabio, Andrea; Sebastio, G. | |
| 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 | |
| Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. | 1.1 Articolo in rivista | 2007 | Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco | |
| Steroid Sulfatase Deficiency and X-linked Ichthyosis. | 2.1 Contributo in volume (Capitolo o Saggio) | 1995 | Ballabio, Andrea; Shapiro, L. J. | |
| Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. | 1.1 Articolo in rivista | 1989 | Ballabio, Andrea; R., Carrozzo; G., Parenti; A., Gil; Zollo, Massimo; M. G., Persico; E., Gillard; N., Affara; J., Yates; M. A., FERGUSON SMITH | |
| Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency | 1.1 Articolo in rivista | 1991 | Ballabio, A; Zollo, Massimo; R., Carrozzo; A., Caiulo; O., Zuffardi; C. F., Cascioli; D., Viggiano; Strisciuglio, Pietro | |
| Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. | 1.1 Articolo in rivista | 1990 | Ballabio, Andrea; Ranier, J. E.; Chamberlain, J. S.; Zollo, Massimo; Caskey, C. T. | |
| 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. | |
| Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. | 1.1 Articolo in rivista | 2008 | Yiş, U.; Pepe, S.; Kurul, S. H.; Ballabio, Andrea; Cosma, M. P.; Dirik, E. | |
| 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. | |
| Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. | 1.1 Articolo in rivista | 1991 | Ballabio, Andrea; Zollo, Massimo; Carrozzo, R; Caiulo, A; Zuffardi, O; Cascioli, Cf; Viggiano, D; Strisciuglio, Pietro | |
| Lysosomal disorders: From storage to cellular damage | 1.1 Articolo in rivista | 2009 | Ballabio, Andrea; Gieselmann, V. | |
| Lysosomal enhancement: a CLEAR answer to cellular degradative needs | 1.1 Articolo in rivista | 2009 | Sardiello, M.; Ballabio, Andrea | |
| Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders | 1.1 Articolo in rivista | 2009 | 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. | |
| In vivo doxycycline controlled regulated system in photoreceptor cells. | 1.1 Articolo in rivista | 2003 | Angeletti, B.; Löster, J.; Auricchio, Alberto; Ballabio, Andrea; Graw, J.; Marigo, V. | |
| Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? | 1.1 Articolo in rivista | 1987 | Fraser, N; Ballabio, Andrea; Zollo, Massimo; Persico, G; Craig, I. | |
| X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. | 1.1 Articolo in rivista | 1996 | Renieri, A; Bruttini, M; Galli, L; Zanelli, P; Neri, T; Rossetti, S; Turco, A; Heiskari, N; Zhou, J; Gusmano, R; Massella, L; Banfi, G; Scolari, F; Sessa, A; Rizzoni, G; Tryggvason, K; Pignatti, P. F.; Savi, M; Ballabio, Andrea; DE MARCHI, M. | |
| Expression pattern of the Tbr-2 (Eomesodermin) gene during mouse and chick brain development. | 1.1 Articolo in rivista | 1999 | Bulfone, A; Martinez, S; Marigo, V; Campanella, M; Basile, A; Quaderi, N; Gattuso, C; Rubenstein, J. L. R.; Ballabio, Andrea |