Results: 1-19 |
Results: 19

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: 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: Bassi, MT Gasol, E Manzoni, M Pineda, M Riboni, M Martin, R Zorzano, A Borsani, G Palacin, M
Citation: Mt. Bassi et al., Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system x(c)(-), PFLUG ARCH, 442(2), 2001, pp. 286-296

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: Coppola, M Pizzigoni, A Banfi, S Bassi, MT Casari, G Incerti, B
Citation: M. Coppola et al., Identification and characterization of YME1L1, a novel paraplegin-related gene, GENOMICS, 66(1), 2000, pp. 48-54

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: 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: 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: 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

Authors: Borsani, G Bassi, MT Sperandeo, MP De Grandi, A Buoninconti, A Riboni, M Manzoni, M Incerti, B Pepe, A Andria, G Ballabio, A Sebastio, G
Citation: G. Borsani et al., SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance, NAT GENET, 21(3), 1999, pp. 297-301

Authors: Buchner, G Montini, E Andolfi, G Quaderi, N Cainarca, S Messali, S Bassi, MT Ballabio, A Meroni, G Franco, B
Citation: G. Buchner et al., MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development, HUM MOL GEN, 8(8), 1999, pp. 1397-1407

Authors: Bassi, MT Sperandeo, MP Incerti, B Bulfone, A Pepe, A Surace, EM Gattuso, C De Grandi, A Buoninconti, A Riboni, M Manzoni, M Andria, G Ballabio, A Borsani, G Sebastio, G
Citation: Mt. Bassi et al., SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family, GENOMICS, 62(2), 1999, pp. 297-303

Authors: Buchner, G Bassi, MT Andolfi, G Ballabio, A Franco, B
Citation: G. Buchner et al., Identification of a novel homolog of the Drosophila staufen protein in thechromosome 8q13-q21.1 region, GENOMICS, 62(1), 1999, pp. 113-118

Authors: Banfi, S Bassi, MT Andolfi, G Marchitiello, A Zanotta, S Ballabio, A Casari, G Franco, B
Citation: S. Banfi et al., Identification and characterization of AFG3L2, a novel paraplegin-related gene, GENOMICS, 59(1), 1999, pp. 51-58

Authors: Bassi, MT Ramesar, RS Caciotti, B Winship, IM De Grandi, A Riboni, M Townes, PL Beighton, P Ballabio, A Borsani, G
Citation: Mt. Bassi et al., X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats, AM J HU GEN, 64(6), 1999, pp. 1604-1616

Authors: Kosaki, K Bassi, MT Kosaki, R Lewin, M Belmont, J Schauer, G Casey, B
Citation: K. Kosaki et al., Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development, AM J HU GEN, 64(3), 1999, pp. 712-721

Authors: Disteche, CM Dinulos, MB Bassi, MT Elliott, RW Rugarli, EI
Citation: Cm. Disteche et al., Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes, MAMM GENOME, 9(12), 1998, pp. 1062-1064
Risultati: 1-19 |