Learn More
We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from ΔF508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1% (R347P, R334W, S549RA, S549I,(More)
The Basque population is one of the oldest populations of Europe. It has been suggested that the Basques arose from a population established in western Europe during the late Paleolithic Age. The Basque language (Euskera) is a supposedly pre-Indo-European language that originates from the first settlers of Europe. The variable distribution of the major(More)
We have analysed haplotypes for four DNA polymorphisms, closely linked to the cystic fibrosis (CF) gene, in 82 Spanish families, in which the CF probands are either homozygous for non-delta F508 mutations or heterozygous for the delta F508 deletion and other CF mutations. The analysis provides genetic data for a new polymorphism for the closely linked(More)
The development of polymerase chain reaction (PCR) which allows the specific amplification of DNA sequences has improved considerably the genetic analysis of hereditary diseases. We present here the application of this new technique to the genetic analysis of cystic fibrosis (CF), the most frequent severe genetic disease in caucasians. We have amplified(More)
We aim to predict radiological observations using computationally-derived imaging features extracted from computed tomography (CT) images. We created a dataset of 79 CT images containing liver lesions identified and annotated by a radiologist using a controlled vocabulary of 76 semantic terms. Computationally-derived features were extracted describing(More)
OBJECTIVE To evaluate a system we developed that connects natural language processing (NLP) for information extraction from narrative text mammography reports with a Bayesian network for decision-support about breast cancer diagnosis. The ultimate goal of this system is to provide decision support as part of the workflow of producing the radiology report.(More)
Mammography has been shown to improve outcomes of women with breast cancer, but it is subject to inter-reader variability. One well-documented source of such variability is in the content of mammography reports. The mammography report is of crucial importance, since it documents the radiologist's imaging observations, interpretation of those observations in(More)
Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the delta F508 mutation, and for closely linked DNA markers. The delta F508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated with the deletion, and at least seven haplotypes carry other mutations. The second major CF mutation is associated with pancreatic(More)