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Results: 1-7 |
Results: 7
Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures
Authors: Amiel, J Espinosa-Parrilla, Y Steffann, J Gosset, P Pelet, A Prieur, M Boute, O Choiset, A Lacombe, D Philip, N Le Merrer, M Tanaka, H Till, M Touraine, R Toutain, A Vekemans, M Munnich, A Lyonnet, S
Citation: J. Amiel et al., Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures, AM J HU GEN, 69(6), 2001, pp. 1370-1377
Optimization of a simple and rapid single-strand conformation analysis fordetection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants
Authors: Espinosa-Parrilla, Y Morell, M Borrell, M Souto, JC Fontcuberta, J Estivill, X Sala, N
Citation: Y. Espinosa-parrilla et al., Optimization of a simple and rapid single-strand conformation analysis fordetection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants, HUM MUTAT, 15(5), 2000, pp. 463-473
Protein S deficiency: A database of mutations - Summary of the first update
Authors: Gandrille, S Borgel, D Sala, N Espinosa-Parrilla, Y Simmonds, R Rezende, S Lind, B Mannhalter, C Pabinger, I Reitsma, PH Formstone, C Cooper, DN Saito, H Suzuki, K Bernardi, F Aiach, M
Citation: S. Gandrille et al., Protein S deficiency: A database of mutations - Summary of the first update, THROMB HAEM, 84(5), 2000, pp. 918-918
Homozygosity for the protein S Heerlen allele is associated with type IPS deficiency in a thrombophilic pedigree with multiple risk factors
Authors: Espinosa-Parrilla, Y Navarro, G Morell, M Abella, E Estivill, X Sala, N
Citation: Y. Espinosa-parrilla et al., Homozygosity for the protein S Heerlen allele is associated with type IPS deficiency in a thrombophilic pedigree with multiple risk factors, THROMB HAEM, 83(1), 2000, pp. 102-106
Protein S secretion differences of missense mutants account for phenotypicheterogeneity
Authors: Espinosa-Parrilla, Y Yamazaki, T Sala, N Dahlback, B de Frutos, PG
Citation: Y. Espinosa-parrilla et al., Protein S secretion differences of missense mutants account for phenotypicheterogeneity, BLOOD, 95(1), 2000, pp. 173-179
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type IIIPS deficiency
Authors: Espinosa-Parrilla, Y Morell, M Souto, JC Tirado, I Fontcuberta, J Estivill, X Sala, N
Citation: Y. Espinosa-parrilla et al., Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type IIIPS deficiency, HUM MUTAT, 14(1), 1999, pp. 30-39
Analysis of the protein S gene in protein S deficiency
Authors: Sala, N Espinosa-Parrilla, Y
Citation: N. Sala et Y. Espinosa-parrilla, Analysis of the protein S gene in protein S deficiency, METH MOL M, 31, 1999, pp. 249-268
Risultati: 1-7 |