To further elucidate the somatic genetic alterations leading to acquired choroidal and ciliochoroidal melanoma, we screened every autosomal arm and the X chromosome of 50 primary posterior melanomas (31 choroidal tumors and 19 ciliochoroidal tumors). A minimum of two microsatellite markers were used to achieve at least 90% informativity (excluding X). Twenty-eight of 47 informative tumors (59%)...

The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females. Intragenic OTC polymorphisms may allow detection of these deletions and may represent an alternative to m...

The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases, the resolution of linkage mapping is limited by the number of available meioses and informative marker density. One recent advance is the development of high-density SNP microarrays for genotyping. T...

AIMS To investigate the incidence of genetic aberrations in the DNA repair genes in a cohort of oesophageal cancers. METHODS One hundred oesophagectomy samples of squamous cell carcinoma were studied. Normal and tumour DNA were isolated using a standard phenol/chloroform extraction procedure. Six recommended microsatellite loci with high informativity were analysed. The following markers were...

BACKGROUND Patients with pathological tissue mass in thoracic cage found with imaging require histopathological or cytological confirmation of malignancy before treatment. The tissue material essential for patomorphological evaluation can be acquired with fine-needle aspiration biopsies (FNAB) controlled with CT and core-needle biopsy (CNB) under real-time CT fluoroscopy guidance. The purpose o...

Most theories of pragmatics and language processing predict that speakers avoid excessive informational redundancy in order to conserve unnecessary cognitive or articulatory effort. Informationally redundant utterances are, however, quite common in natural dialog. From a comprehension standpoint, it remains unclear how listeners interpret these utterances, and whether they make attempts to reco...

Recent years have seen a surge in accounts motivated by information theory that consider language production to be partially driven by a preference for communicative efficiency. Evidence from discourse production (i.e., production beyond the sentence level) has been argued to suggest that speakers distribute information across discourse so as to hold the conditional per-word entropy associated ...

Fusion of the information provided by distributed sensors is important in the future pervasive computing systems. The objective of this paper is to quantify the relative amount of information delivered by individual sensors in a distributed sensor system. To formalize our approach, we consider the problem of fusing the statistical information obtained using low-rate sensor recordings viðnÞ in o...

Two main points constitute a matter of debate concerning the phenomenon of Scalar Implicatures (SIs): the place of their derivation, which opposes a “recursive”/grammatically driven approach such as Chierchia’s (Chierchia, 2002&2006; Fox, 2003; Landman, 1998; Levinson, 2000) to traditional NeoGricean approaches that view SIs as genuinely post-grammatical/pragmatic processes that are added “glob...

Across languages of the world, some grammatical patterns have been argued to be more common than expected by chance. These are sometimes referred to as (statistical) language universals. One such universal is the correlation between constituent order freedom and the presence of a case system in a language. Here, we explore whether this correlation can be explained by a bias to balance productio...