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Results:
1-19
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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
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