Results: 1-25 | 26-50 | 51-51
Results: 1-25/51

Authors: Cairo, S Merla, G Urbinati, F Ballabio, A Reymond, A
Citation: S. Cairo et al., WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, isa new member of the Mlx transcription factor network, HUM MOL GEN, 10(6), 2001, pp. 617-627

Authors: Font, M Feliubadalo, L Estivill, X Nunes, V Golomb, E Kreiss, Y Pras, E Bisceglia, L d'Adamo, AP Zelante, L Gasparini, P Bassi, MT George, AL Manzoni, M Riboni, M Ballabio, A Borsani, G Reig, N Fernandez, E Zorzano, A Bertran, J Palacin, M
Citation: M. Font et al., Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria, HUM MOL GEN, 10(4), 2001, pp. 305-316

Authors: Hastie, N Ballabio, A Miller, A
Citation: N. Hastie et al., Genetics of disease - Editorial overview, CUR OP GEN, 11(3), 2001, pp. 239-240

Authors: Forus, A D'Angelo, A Henriksen, J Merla, G Maelandsmo, GM Florenes, VA Olivieri, S Bjerkehagen, B Meza-Zepeda, LA Blanco, FD Muller, C Sanvito, F Kononen, J Nesland, JM Fodstad, O Reymond, A Kallioniemi, OP Arrigoni, G Ballabio, A Myklebost, O Zollo, M
Citation: A. Forus et al., Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas - a possible mechanism for altering the nm23-H1 activity, ONCOGENE, 20(47), 2001, pp. 6881-6890

Authors: Bassi, MT Bergen, AAB Bitoun, P Charles, SJ Clementi, M Gosselin, R Hurst, J Lewis, RA Lorenz, B Meitinger, T Messiaen, L Ramesar, RS Ballabio, A Schiaffino, MV
Citation: Mt. Bassi et al., Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America, HUM GENET, 108(1), 2001, pp. 51-54

Authors: Reymond, A Meroni, G Fantozzi, A Merla, G Cairo, S Luzi, L Riganelli, D Zanaria, E Messali, S Cainarca, S Guffanti, A Minucci, S Pelicci, PG Ballabio, A
Citation: A. Reymond et al., The tripartite motif family identifies cell compartments, EMBO J, 20(9), 2001, pp. 2140-2151

Authors: Ahmad, W Noci, S Haque, MFU Sarno, T Aridon, P Ahmad, MM Amin-ud-din, M Rafiq, MA Haque, SU De Fusco, M Ballabio, A Franco, B Casari, G
Citation: W. Ahmad et al., Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family, AM J MED G, 100(1), 2001, pp. 62-65

Authors: Kayserili, H Cox, TC Cox, LL Basaran, S Kilic, G Ballabio, A Yuksel-Apak, M
Citation: H. Kayserili et al., Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS), J MED GENET, 38(6), 2001, pp. 411-417

Authors: Ferrante, MI Giorgio, G Feather, SA Bulfone, A Wright, V Ghiani, M Selicorni, A Gammaro, L Scolari, F Woolf, AS Sylvie, O Bernard, LM Malcolm, S Winter, R Ballabio, A Franco, B
Citation: Mi. Ferrante et al., Identification of the gene for oral-facial-digital type I syndrome, AM J HU GEN, 68(3), 2001, pp. 569-576

Authors: De Fusco, M Becchetti, A Patrignani, A Annesi, G Gambardella, A Quattrone, A Ballabio, A Wanke, E Casari, G
Citation: M. De Fusco et al., The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy, NAT GENET, 26(3), 2000, pp. 275-276

Authors: Bulfone, A Menguzzato, E Broccoli, V Marchitiello, A Gattuso, C Mariani, M Consalez, GG Martinez, S Ballabio, A Banfi, S
Citation: A. Bulfone et al., Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS, HUM MOL GEN, 9(9), 2000, pp. 1443-1452

Authors: d'Addio, M Pizzigoni, A Bassi, MT Baschirotto, C Valetti, C Incerti, B Clementi, M De Luca, M Ballabio, A Schiaffino, MV
Citation: M. D'Addio et al., Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1, HUM MOL GEN, 9(20), 2000, pp. 3011-3018

Authors: Incerti, B Cortese, K Pizzigoni, A Surace, EM Varani, S Coppola, M Jeffery, G Seeliger, M Jaissle, G Bennett, DC Marigo, V Schiaffino, MV Tacchetti, C Ballabio, A
Citation: B. Incerti et al., Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1, HUM MOL GEN, 9(19), 2000, pp. 2781-2788

Authors: Meroni, G Cairo, S Merla, G Messali, S Brent, R Ballabio, A Reymond, A
Citation: G. Meroni et al., Mlx, a new Max-Like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?, ONCOGENE, 19(29), 2000, pp. 3266-3277

Authors: Buchner, G Broccoli, V Bulfone, A Orfanelli, U Gattuso, C Ballabio, A Franco, B
Citation: G. Buchner et al., MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives, MECH DEVEL, 98(1-2), 2000, pp. 179-182

Authors: Buchner, G Orfanelli, U Quaderi, N Bassi, MT Andolfi, G Ballabio, A Franco, B
Citation: G. Buchner et al., Identification of a new EGF-repeat-containing gene from human Xp22: A candidate for developmental disorders, GENOMICS, 65(1), 2000, pp. 16-23

Authors: Monti, E Bassi, MT Papini, N Riboni, M Manzoni, M Venerando, B Croci, G Preti, A Ballabio, A Tettamanti, G Borsani, G
Citation: E. Monti et al., Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane, BIOCHEM J, 349, 2000, pp. 343-351

Authors: Surace, EM Angeletti, B Ballabio, A Marigo, V
Citation: Em. Surace et al., Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium, INV OPHTH V, 41(13), 2000, pp. 4333-4337

Authors: Gambardella, A Annesi, G De Fusco, M Patrignani, A Aguglia, U Annesi, F Pasqua, AA Spadafora, P Oliveri, RL Valentino, P Zappia, M Ballabio, A Casari, G Quattrone, A
Citation: A. Gambardella et al., A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps tochromosome 1, NEUROLOGY, 55(10), 2000, pp. 1467-1471

Authors: Bassi, MT Manzoni, M Monti, E Pizzo, MT Ballabio, A Borsani, G
Citation: Mt. Bassi et al., Cloning of the gene encoding a novel integral membrane protein, mucolipidin - and identification of the two major founder mutations causing mucolipidosis type IV, AM J HU GEN, 67(5), 2000, pp. 1110-1120

Authors: Fukami, M Kirsch, S Schiller, S Richter, A Benes, V Franco, B Muroya, K Rao, E Merker, S Niesler, B Ballabio, A Ansorge, W Ogata, T Rappold, GA
Citation: M. Fukami et al., A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation, AM J HU GEN, 67(3), 2000, pp. 563-573

Authors: Sperandeo, MP Bassi, MT Riboni, M Parenti, G Buoninconti, A Manzoni, M Incerti, B Larocca, MR Di Rocco, M Strisciuglio, P Dianzani, I Parini, R Candito, M Endo, F Ballabio, A Andria, G Sebastio, G Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99

Authors: Lavorgna, G Guffanti, A Borsani, G Ballabio, A Boncinelli, E
Citation: G. Lavorgna et al., TargetFinder: searching annotated sequence databases for target genes of transcription factors, BIOINFORMAT, 15(2), 1999, pp. 172-173

Authors: Feliubadalo, L Font, M Purroy, J Rousaud, F Estivill, X Nunes, V Golomb, E Centola, M Aksentijevich, I Kreiss, Y Goldman, B Pras, M Kastner, DL Pras, E Gasparini, P Bisceglia, L Beccia, E Gallucci, M de Sanctis, L Ponzone, A Rizzoni, GF Zelante, L Bassi, MT George, AL Manzoni, M De Grandi, A Riboni, M Endsley, JK Ballabio, A Borsani, G Reig, N Fernandez, E Estevez, R Pineda, M Torrents, D Camps, M Lloberas, J Zorzano, A Palacin, M
Citation: L. Feliubadalo et al., Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT, NAT GENET, 23(1), 1999, pp. 52-57

Authors: Schiaffino, MV d'Addio, M Alloni, A Baschirotto, C Valetti, C Cortese, K Puri, C Bassi, MT Colla, C De Luca, M Tacchetti, C Ballabio, A
Citation: Mv. Schiaffino et al., Ocular albinism: evidence for a defect in an intracellular signal transduction system, NAT GENET, 23(1), 1999, pp. 108-112
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