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BALLABIO, ANDREA

BALLABIO, ANDREA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Risultati 1 - 20 di 482 (tempo di esecuzione: 0.04 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
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.
Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? 1.1 Articolo in rivista 2000 Meroni, G; Cairo, S; Merla, G; Messali, S; Brent, R; Ballabio, Andrea; Reymond, A.
Multiple Sulfatase Deficiency is Due to Hypomorphic Mutations of the SUMF1 Gene 1.1 Articolo in rivista 2007 Annunziata, I; Bouch, V; Lombardi, A; Settembre, Carmine; Ballabio, Andrea
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-liked nonspecific mental retardation. 1.1 Articolo in rivista 2000 Fukami, M; Kirsch, S; Schiller, S; Richter, A; Benes, V; Franco, Brunella; Muroya, K; Rao, E; Merker, S; Niesler, B; Ballabio, Andrea; Ansorge, W; Ogata, T; Rappold, G. A.
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. 1.1 Articolo in rivista 1993 Wapenaar, M. C.; Bassi, M. T.; Schaefer, L; Grillo, A; Ferrero, G. B.; Chinault, A. C.; Ballabio, Andrea; Zoghbi, H. Y.
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. 1.1 Articolo in rivista 1993 Lee, W. C.; Ferrero, G. B.; Chinault, A. C.; Yen, P. H.; Ballabio, Andrea
Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-8q21.1 region. 1.1 Articolo in rivista 1999 Buchner, G; Bassi, M. T.; Andolfi, G; Ballabio, Andrea; Franco, Brunella
Pelizaeus-Merzbacher Disease 2.1 Contributo in volume (Capitolo o Saggio) 1995 Zoghbi, H. Y.; Ballabio, Andrea
Neurofibromatosis 2 2.1 Contributo in volume (Capitolo o Saggio) 1995 Zoghbi, H. Y.; Ballabio, Andrea
Linkage mapping of a new syndromic form of X-linked mental retardation associated to obesity 1.1 Articolo in rivista 1999 W., Ahmad; M., DE FUSCO; M., FAIYAZ UL HAQUE; P., Aridon; T., Sarno; S., UL HAQUE; M., Ahmad; Ballabio, Andrea; Franco, Brunella; G., Casari
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. 1.1 Articolo in rivista 1996 Parenti, G; Rizzolo, M. G.; Ghezzi, M; DI MAIO, S; Sperandeo, M. P.; Incerti, B; Franco, Brunella; Ballabio, Andrea; Andria, G.
Kallmann Syndrome 2.1 Contributo in volume (Capitolo o Saggio) 2000 Ballabio, Andrea
Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster in Xp22 1.1 Articolo in rivista 1999 E., Montini; G., Buchner; C., Spalluto; G., Andolfi; A., Caruso; JT DEN, Dunnen; D., Trump; M., Rocchi; Ballabio, Andrea; Franco, Brunella
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibers and eye coloboma 1.1 Articolo in rivista 2002 Barbieri, Am; Broccoli, V; Bovolenta, P; Alfano, G; Marchitiello, A; Mocchetti, C; Crippa, L; Bulfone, A; Marigo, V; Ballabio, Andrea; Banfi, S.
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.