A. Palacio
8 Papers
158 Citations
A. Palacio is an academic researcher. The author has contributed to research in topics: Cystic fibrosis & Cystic fibrosis transmembrane conductance regulator. The author has an hindex of 7, co-authored 8 publications.
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Papers
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
M. J. Alonso,Damian Heine-Suñer,M. T. Calvo,Jordi Rosell,Javier Giménez,Maria D. Ramos,J. J. Telleria,A. Palacio,Xavier Estivill,Teresa Casals +9 more
TL;DR: The spectrum of CF mutations in Spain will be useful for improving genetic testing, as well as to facilitate counselling in people of Spanish ancestry, and corroborates the high molecular mutation heterogeneity of Mediterranean populations.
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Miguel Chillón,Teresa Casals,Javier Giménez,Maria D. Ramos,A. Palacio,Núria Morral,Xavier Estivill,V. Nunes +7 more
TL;DR: The high proportion of CF chromosomes still unidentified together with association analysis with intragenic markers suggest that at least 100 different mutations causing CF are present in the authors' population.
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Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area
Teresa Casals,Virginia Nunes,A. Palacio,Javier Giménez,Antonia Gaona,Núria Ibáñez,Núria Morral,Xavier Estivill +7 more
TL;DR: The geographic distribution of mutations Δf508 and G542X suggests that ΔF508 was present in the Iberian Peninsula before the Indo-European invasions, and that G541X was introduced into Spain, via the Mediterranean Sea, probably by the Phoenicians, between 2500 and 3000 years ago.
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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
Bernard Mercier,Willy Lissens,G Novelli,Luba Kalaydjieva,M. De Arce,N Kapranov,N Canki Klain,Xavier Estivill,A. Palacio,S Cashman +9 more
TL;DR: The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.
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Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients
Teresa Casals,Paula Pacheco,Celeste Barreto,Javier Giménez,Ramos,Pereira S,Pinheiro Ja,N. Cobos,Curvelo A,C. Vazquez,Rocha H,J L Seculi,Pérez E,Dapena J,Carrilho E,Duarte A,A. Palacio,Nunes,João Lavinha,Xavier Estivill +19 more
TL;DR: The data presented in this study clearly demonstrate that the R1066C mutation is responsible for a severe phenotype similar to that observed in homozygous ΔF508 patients, and is probably related to their slightly longer survival.
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