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Because of reports linking an increased risk of leukemia with exposure to ethylene oxide, a mortality study of workers with potential exposure to ethylene oxide at the Texaco Chemical Company Plant in Port Neches, Tex., was undertaken. A total of 767 males with potential exposure to ethylene oxide were identified. Forty-six deaths occurred in this cohort(More)
A cohort study of 14179 current and former Chevron USA employees at the Richmond and El Segundo, California, refineries was conducted. The cohort consisted of everyone working at either refinery for a minimum of one year. The observed mortality of the cohort, by cause, was compared with the expected based on the United States mortality rates, standardised(More)
Extensive follow-up of production workers in the paint and coatings industry failed to indicate any important hazard that was previously unsuspected. The authors are more confident of the results of their original study since studying a subsample of persons lost to follow-up in the original study. Some efforts to investigate certain diseases (skin and liver(More)
Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*),(More)
Global developmental delay (GDD) affects ~1-3% of children, many of whom will also have intellectual disability (ID). Fragile X is the major genetic cause of GDD with mental retardation (MR) in males, accounting for ~20% of all X-linked MR. As Fragile X has serious genetic implications, the overwhelming majority of developmental delay (DD) cases referred to(More)
The use of Microarray (array CGH) analysis has become a widely accepted front-line test replacing G banded chromosome studies for patients with an unexplained phenotype. We detail our findings of over 5300 cases. Of 5369 pre and postnatal samples, copy number variants (CNVs) were detected in 28.3 %, of which ~40 % were deletions and ~60 % were duplications.(More)
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