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Results: 1-13 |
Results: 13
Chimeraplasty validation
Authors: Albuquerque-Silva, J Vassart, G Lavinha, J Abramowicz, MJ
Citation: J. Albuquerque-silva et al., Chimeraplasty validation, NAT BIOTECH, 19(11), 2001, pp. 1011-1011
Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study
Authors: Amaral, MD Pacheco, P Beck, S Farinha, CM Penque, D Nogueira, P Barreto, C Lopes, B Casals, T Dapena, J Gartner, S Vasquez, C Perez-Frias, J Olveira, C Cabanas, R Estivill, X Tzetis, M Kanavakis, E Doudounakis, S Dork, T Tummler, B Girodon-Boulandet, E Cazeneuve, C Goossens, M Blayau, M Verlingue, C Vieira, I Ferec, C Claustres, M des Georges, M Clavel, C Birembaut, P Hubert, D Bienvenu, T Adoun, M Chomel, JC De Boeck, K Cuppens, H Lavinha, J
Citation: Md. Amaral et al., Cystic fibrosis patients with the 3272-26A > G splicing mutation have milder disease than F508del homozygotes: a large European study, J MED GENET, 38(11), 2001, pp. 777-782
beta-Thalassaemia in Cubans: Novel allele increases the genetic diversity at the HBB locus in the Caribbean
Authors: Muniz, A Martinez, G Lavinha, J Pacheco, P
Citation: A. Muniz et al., beta-Thalassaemia in Cubans: Novel allele increases the genetic diversity at the HBB locus in the Caribbean, AM J HEMAT, 64(1), 2000, pp. 7-14
Molecular genetic analysis of factor XI deficiency: Identification of fivenovel gene alterations and the origin of type II mutation in Portuguese families
Authors: Ventura, C Santos, AIM Tavares, A Gago, T Lavinha, J McVey, JH David, D
Citation: C. Ventura et al., Molecular genetic analysis of factor XI deficiency: Identification of fivenovel gene alterations and the origin of type II mutation in Portuguese families, THROMB HAEM, 84(5), 2000, pp. 833-840
Ethnic heterogeneity of the factor XIII Val34Leu polymorphism
Authors: Attie-Castro, FA Zago, MA Lavinha, J Elion, J Rodriguez-Delfin, L Guerreiro, JF Franco, RF
Citation: Fa. Attie-castro et al., Ethnic heterogeneity of the factor XIII Val34Leu polymorphism, THROMB HAEM, 84(4), 2000, pp. 601-603
Cystic fibrosis F508del patients have apically localized CFTR in a reducednumber of airway cells
Authors: Penque, D Mendes, F Beck, S Farinha, C Pacheco, P Nogueira, P Lavinha, J Malho, R Amaral, MD
Citation: D. Penque et al., Cystic fibrosis F508del patients have apically localized CFTR in a reducednumber of airway cells, LAB INV, 80(6), 2000, pp. 857-868
Nonsense mutations in the human beta-globin gene lead to unexpected levelsof cytoplasmic mRNA accumulation
Authors: Romao, L Inacio, A Santos, S Avila, M Faustino, P Pacheco, P Lavinha, J
Citation: L. Romao et al., Nonsense mutations in the human beta-globin gene lead to unexpected levelsof cytoplasmic mRNA accumulation, BLOOD, 96(8), 2000, pp. 2795-2801
Nonsense mutations in the human beta-globin gene lead to unexpected levelsof cytoplasmic mRNA accumulation
Authors: Romao, L Inacio, A Santos, S Avila, M Faustino, P Pacheco, P Lavinha, J
Citation: L. Romao et al., Nonsense mutations in the human beta-globin gene lead to unexpected levelsof cytoplasmic mRNA accumulation, BLOOD, 96(8), 2000, pp. 2895-2901
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Authors: Rosser, ZH Zerjal, T Hurles, ME Adojaan, M Alavantic, D Amorim, A Amos, W Armenteros, M Arroyo, E Barbujani, G Beckman, G Beckman, L Bertranpetit, J Bosch, E Bradley, DG Brede, G Cooper, G Corte-Real, HBSM de Knijff, P Decorte, R Dubrova, YE Evgrafov, O Gilissen, A Glisic, S Golge, M Hill, EW Jeziorowska, A Kalaydjieva, L Kayser, M Kivisild, T Kravchenko, SA Krumina, A Kucinskas, V Lavinha, J Livshits, LA Malaspina, P Maria, S McElreavey, K Meitinger, TA Mikelsaar, AV Mitchell, RJ Nafa, K Nicholson, J Norby, S Pandya, A Parik, J Patsalis, PC Pereira, L Peterlin, B Pielberg, G Prata, ML Previdere, C Roewer, L Rootsi, S Rubinsztein, DC Saillard, J Santos, FR Stefanescu, G Sykes, BC Tolun, A Villems, R Tyler-Smith, C Jobling, MA
Citation: Zh. Rosser et al., Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language, AM J HU GEN, 67(6), 2000, pp. 1526-1543
Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane
Authors: Beck, S Penque, D Garcia, S Gomes, A Farinha, C Mata, L Gulbenkian, S Gil-Ferreira, K Duarte, A Pacheco, P Barreto, C Lopes, B Cavaco, J Lavinha, J Amaral, MD
Citation: S. Beck et al., Cystic fibrosis patients with the 3272-26A -> G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane, HUM MUTAT, 14(2), 1999, pp. 133-144
Long-term follow-up of a family with autosomal dominant polycystic kidney disease type 3
Authors: de Almeida, E Prata, MM de Almeida, S Lavinha, J
Citation: E. De Almeida et al., Long-term follow-up of a family with autosomal dominant polycystic kidney disease type 3, NEPH DIAL T, 14(3), 1999, pp. 631-634
PKD3 - to be or not to be? Reply
Authors: de Almeida, E Prata, MM de Almeida, S Lavinha, J
Citation: E. De Almeida et al., PKD3 - to be or not to be? Reply, NEPH DIAL T, 14(12), 1999, pp. 2965-2966
The geographic pattern of beta-thalassaemia mutations in the Portuguese population
Authors: Faustino, P Pacheco, P Loureiro, P Nogueira, PJ Lavinha, J
Citation: P. Faustino et al., The geographic pattern of beta-thalassaemia mutations in the Portuguese population, BR J HAEM, 107(4), 1999, pp. 903-904
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