IRIS

BALLABIO, ANDREA

BALLABIO, ANDREA  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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DG-CST (Disease Gene Conserved Sequence Tags), a database of human�mouse conserved elements associated to disease genes 1.1 Articolo in rivista 2005 Boccia, Angelo; Petrillo, Mauro; DI BERNARDO, Diego; Guffanti, A.; Mignone, F.; Confalonieri, S.; Luzi, L; Pesole, G.; Paolella, Giovanni; Ballabio, Andrea; Banfi, S.
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.; Auricchio, Alberto; Piemonte, F.; Tozzi, G.; Gaeta, L.; Casari, G.; Ballabio, Andrea; Rugarli, E. I.
The Ocular Albinism type 1 (OA!) gene controls melanosome maturation and size. 1.1 Articolo in rivista 2005 Cortese, K; Giordano, F; Surace, Enrico Maria; Venturi, C; Ballabio, Andrea; Tacchetti, C; AND MARIGO, V.
Sulfatases and human disease. 1.1 Articolo in rivista 2005 DIEZ ROUX, G.; Ballabio, Andrea
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.
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
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
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene 1.1 Articolo in rivista 1997 G., Parenti; P., Buttitta; G., Meroni; Franco, Brunella; L., Bernard; Mg, Rizzolo; BRUNETTI PIERRI, Nicola; Ballabio, Andrea; G. A. N. D. R. I., A.
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
Functional implications of the spectrum of mutations found in 235 cases with X-linked juvenile retinoschisis (XLRS) 1.1 Articolo in rivista 1998 THE RETINOSCHISIS CONSORTIUM GROUP G., Andolfi; E., Montini; Y., Li; C., Oudet; H., Bolz; J., Kaplan; U., Orth; A., Gal; A., Hanauer; Am, Bardelli; C., Ayuso; P., Bitoun; V., Ventruto; B., Dallapiccola; Ballabio, Andrea; Franco, Brunella
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation 1.1 Articolo in rivista 2000 M., Fukami; S., Kirsch; S., Schiller; A., Richter; V., Benes; Franco, Brunella; K., Muroya; E., Rao; S., Merker; B., Niesler; Ballabio, Andrea; W., Ansorge; T., Ogata; Ga, Rappold
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
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
Xp contiguous gene syndromes: from clinical observation to disease gene identification 1.1 Articolo in rivista 2000 Franco, Brunella; Ballabio, Andrea
Exclusion of the PPEF gene as the gene causing X-linked juvenile Retinoschisis 1.1 Articolo in rivista 1997 E., VAN DE VOSSE; Franco, Brunella; P., VAN DER BRENT; E., Montini; U., Orth; A., Hanauer; N., Tijmes; GJ VAN, Ommen; Ballabio, Andrea; JT DEN, Dunnen; Aa, Bergen
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.
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum 1.1 Articolo in rivista 2003 F., DE FALCO; S., Cainarca; G., Andolfi; R., Ferrentino; C., Berti; G., RODRGUEZ CRIADO; O., Rittinger; R., Dennis; S., Odent; A., Rastogi; J., Liebelt; D., Chitayat; R., Winter; H., Jawanda; Ballabio, Andrea; Franco, Brunella; G., Meroni
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
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX 1.1 Articolo in rivista 1998 Daniele, A.; Parenti, G.; D'Addio, M.; Andria, Generoso; Ballabio, Andrea; Meroni, 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.