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BALLABIO, ANDREA

BALLABIO, ANDREA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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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, Mv; Tuzzi, R; Vega, Gr; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G; Parenti, Giancarlo
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.
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis 1.1 Articolo in rivista 1987 Ballabio, Andrea; Parenti, Giancarlo; Carrozzo, R; Sebastio, G; Andria, Generoso; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G; Jobsis, Ac; Persico, Mg
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.
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease. 1.1 Articolo in rivista 2007 Parenti, Giancarlo; Zuppaldi, Alfredo; GABRIELA PITTIS, M; Tuzzi, Mr; Annunziata, I; Meroni, G; Porto, C; Donaudy, F; Rossi, B; Rossi, M; Filocamo, M; Donati, A; Bembi, B; Ballabio, Andrea; Andria, Generoso
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
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
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.
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
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