DP Dash

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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)
address: " Mapping complex traits-The human and canine genetic systems " Donor cell neoplasms (DCN) are a rare entity, and the vast majority reported are either AML or ALL. We report two new cases (males, aged 25 and 43) that had an allogeneic SCT from female related donors in first CR following an initial diagnosis of AML and ALL and respectively. Both(More)
Chronic lymphocytic leukaemia (CLL) represents the most common leukaemia in the western world. The cytogenetic analysis for specific karyotypic events plays an important part in the diagnostic work up of these patients. The most frequently described aberration in CLL, in about 50% of cases, are deletions of chromosome 13q. Since 2005, 313 patients at(More)
Keynote address: " Sweet dreams: using genome wide association methods to find genes for diabetes and obesity " Irish Travellers are a nomadic people in whom early marriage, frequent child bearing and consanguinity are cultural norms. They number 22,445, <0.5% of the Irish population, 9.6% of the 1465 patients listed at NCIMD on January 1 st 2007 were(More)
Dysbindin is known to (a) bind ß-dystrobrevin in postsynaptic densities in a number of brain areas, and (b) be a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Reduced levels of dysbindin have been identified presynaptically at hippocampal formation sites lacking ß-dystrobrevin in schizophrenia cases. This suggests a role for(More)
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