Leslie Daly

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Keynote address: 'Old men and selfish spermatogonia: how much do they contribute to the mutation burden?' We present a study on a non-consanguineous Irish family that includes two siblings (male and female) with dilated cardiomyopathy (DCM) and chorioretinopathy. The children have been extensively investigated by the cardiac, metabolic and genetic teams but(More)
BACKGROUND Genetic factors are known to contribute to COPD susceptibility and these factors are not fully understood. Conflicting results have been reported for many genetic studies of candidate genes based on their role in the disease. Genome-wide association studies in combination with expression profiling have identified a number of new candidates(More)
A retrospective case-control study of 200 patients with head and neck cancer, and 200 controls matched for age and sex, confirmed the importance of tobacco and alcohol consumption in the aetiology of malignant tumours of the upper gastrointestinal and upper respiratory tracts. A male-female ratio of 3:1 was found, and the association of smoking with(More)
BACKGROUND Ireland is an example of a country that has extensive voluntary fortification with folic acid. After a public consultation process, in 2006, the Food Safety Authority in Ireland FSAI 1 recommended mandatory fortification. However due to safety considerations this decision is now on hold. Before mandatory fortification goes ahead, existing levels(More)
BACKGROUND Suicidal behaviour is known to aggregate in families. Patients with psychiatric disorders are at higher risk for suicide attempts (SA), however protective and risk genetic variants for suicide appear to be independent of underlying psychiatric disorders. Here we investigate genetic variants in genes important for neurobiological pathways linked(More)
BACKGROUND The current lifetable approach to survival estimation is favoured by CF registries. Recognising the limitation of this approach, we examined the utility of a parametric survival model to project birth cohort survival estimates beyond the follow-up period, where short duration of follow-up meant median survival estimates were indeterminable. (More)
Morquio disease (mucopolysaccharidosis type IV) is an autosomal recessive lysosomal storage disorder causing predominantly skeletal manifestations. It is caused by a deficiency of galactose-6-sulphatase. In classical Morquio disease there is extreme short stature with height being between 90 and 120 cm. We have identified 10 individuals in Northern Ireland(More)
An autoregressive moving average model is presented for detecting the gas exchange threshold (GET) from gas exchange response data taken during an incremental exercise test. The approach has the advantage of modelling the serial correlation in the noise between observations from the same subject. The model is fitted by maximum likelihood and a breakpoint or(More)
A RECENT STUDY of head and neck cancer in Ireland (Herity et al., 1981) confirmed that tobacco and alcohol consumption were significant risk factors in the development of cancer of the larynx; a heavy smoker had a risk almost 40 times that of a non-smoker and a heavy drinker had a 3-fold increase in risk over a non-drinker. Many other workers have described(More)
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