AAAAAA

   
Results: 1-9 |
Results: 9
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
Authors: Crisponi, L Deiana, M Loi, A Chiappe, F Uda, M Amati, P Bisceglia, L Zelante, L Nagaraja, R Porcu, S Ristaldi, MS Marzella, R Rocchi, M Nicolino, M Lienhardt-Roussie, A Nivelon, A Verloes, A Schlessinger, D Gasparini, P Bonneau, D Cao, A Pilia, G
Citation: L. Crisponi et al., The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome, NAT GENET, 27(2), 2001, pp. 159-166
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
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
Cystinuria phenotyping by oral lysine and arginine loading
Authors: de Sanctis, L Bonetti, G Bruno, M De Luca, F Bisceglia, L Palacin, M Dianzani, I Ponzone, A
Citation: L. De Sanctis et al., Cystinuria phenotyping by oral lysine and arginine loading, CLIN NEPHR, 56(6), 2001, pp. 467-474
C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers?
Authors: Martinelli, M Scapoli, L Pezzetti, F Carinci, F Carinci, P Stabellini, G Bisceglia, L Gombos, F Tognon, M
Citation: M. Martinelli et al., C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers?, AM J MED G, 98(4), 2001, pp. 357-360
Cystinuria type I: Identification of eight new mutations in SLC3A1
Authors: Bisceglia, L Purroy, J Jimenez-Vidal, M d'Adamo, AP Rousaud, F Beccia, E Penza, R Rizzoni, G Gallucci, M Palacin, M Gasparini, P Nunes, V Zelante, L
Citation: L. Bisceglia et al., Cystinuria type I: Identification of eight new mutations in SLC3A1, KIDNEY INT, 59(4), 2001, pp. 1250-1256
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
Authors: Melchionda, S Ahituv, N Bisceglia, L Sobe, T Glaser, F Rabionet, R Arbones, ML Notarangelo, A Di Iorio, E Carella, M Zelante, L Estivill, X Avraham, KB Gasparini, P
Citation: S. Melchionda et al., MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss, AM J HU GEN, 69(3), 2001, pp. 635-640
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR
Authors: Purroy, J Bisceglia, L Jaeken, J Gasparini, P Palacin, M Nunes, V
Citation: J. Purroy et al., Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR, HUM MUTAT, 15(4), 2000, pp. 373-379
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)AT) of rBAT
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
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1
Authors: Feliubadalo, L Bisceglia, L Font, M Dello Strologo, L Beccia, E Arslan-Kirchner, M Steinmann, B Zelante, L Estivill, X Zorzano, A Palacin, M Gasparini, P Nunes, V
Citation: L. Feliubadalo et al., Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1, GENOMICS, 60(3), 1999, pp. 362-365
Risultati: 1-9 |