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Results: 1-16 |
Results: 16
Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees
Authors: Gomez-Zaera, M Strom, TM Rodriguez, B Estivill, X Meitinger, T Nunes, V
Citation: M. Gomez-zaera et al., Presence of a major WFS1 mutation in Spanish wolfram syndrome pedigrees, MOL GEN MET, 72(1), 2001, pp. 72-81
Markedly elevated lipid transfer inhibitor protein in hypercholesterolemicsubjects is mitigated by plasma triglyceride levels
Authors: Morton, RE Nunes, V Izem, L Quintao, E
Citation: Re. Morton et al., Markedly elevated lipid transfer inhibitor protein in hypercholesterolemicsubjects is mitigated by plasma triglyceride levels, ART THROM V, 21(10), 2001, pp. 1642-1649
Is mitochondrial DNA depletion involved in Alzheimer's disease?
Authors: Rodriguez-Santiago, B Casademont, J Nunes, V
Citation: B. Rodriguez-santiago et al., Is mitochondrial DNA depletion involved in Alzheimer's disease?, EUR J HUM G, 9(4), 2001, pp. 279-285
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
Mitochondrial involvement in antiretroviral therapy-related lipodystrophy
Authors: Zaera, MG Miro, O Pedrol, E Soler, A Picon, M Cardellach, F Casademont, J Nunes, V
Citation: Mg. Zaera et al., Mitochondrial involvement in antiretroviral therapy-related lipodystrophy, AIDS, 15(13), 2001, pp. 1643-1651
Evaluation of Uruguay's wind potential
Authors: Nunes, V Cataldo, J Casaravilla, G
Citation: V. Nunes et al., Evaluation of Uruguay's wind potential, ING QUIM, (19), 2001, pp. 20-25
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
Analysis of mtDNA point mutations A3243G, C3256T and mtDNA deletions in 41diabetic patients
Authors: Biarnes, J Rojas, I Gomez, M Ricart, W Fernandez-Castaner, M Nunes, V
Citation: J. Biarnes et al., Analysis of mtDNA point mutations A3243G, C3256T and mtDNA deletions in 41diabetic patients, MED CLIN, 116(8), 2001, pp. 292-293
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
Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy
Authors: Miro, O Gomez, M Pedrol, E Cardellach, F Nunes, V Casademont, J
Citation: O. Miro et al., Respiratory chain dysfunction associated with multiple mitochondrial DNA deletions in antiretroviral therapy-related lipodystrophy, AIDS, 14(12), 2000, pp. 1855-1857
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
Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene
Authors: Torrents, D Mykkanen, J Pineda, M Feliubadalo, L Estevez, R de Cid, R Sanjurjo, P Zorzano, A Nunes, V Huoponen, K Reinikainen, A Simell, O Savontaus, ML Aula, P Palacin, M
Citation: D. Torrents et al., Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene, NAT GENET, 21(3), 1999, pp. 293-296
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
Absence of mitochondrial dysfunction in polymyalgia rheumatica - Evidence based on a simultaneous molecular and biochemical approach
Authors: Miro, O Jarreta, D Casademont, J Barrientos, A Rodriguez, B Gomez, M Nunes, V Urbano-Marquez, A Cardellach, F
Citation: O. Miro et al., Absence of mitochondrial dysfunction in polymyalgia rheumatica - Evidence based on a simultaneous molecular and biochemical approach, SC J RHEUM, 28(5), 1999, pp. 319-323
Leber's hereditary optic neuropathy mutations in 31 Spanish individuals affected by optic atrophy; segregation studies in 5 families
Authors: Zaera, MG Barrientos, A Arias, L Rojas, I Arruga, J Estivill, X Casademont, J Nunes, V
Citation: Mg. Zaera et al., Leber's hereditary optic neuropathy mutations in 31 Spanish individuals affected by optic atrophy; segregation studies in 5 families, MED CLIN, 112(9), 1999, pp. 326-329
Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Description of one case
Authors: Biarnes, J Barrientos, A Ricart, W Nunes, V Fernandez-Castaner, M Soler, J
Citation: J. Biarnes et al., Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Description of one case, MED CLIN, 112(3), 1999, pp. 99-101
Risultati: 1-16 |