Rob Elles

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Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and(More)
A library of 50,000 recombinants representative of the human X chromosome has been constructed. Human X chromosomes were physically separated using a fluorescence-activated cell sorter. The DNA was purified from the chromosomes, digested to completion with the restriction enzyme EcoRI and cloned into the phage lambda gtWES.lambda B. The X-derived nature of(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)
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)
96 families at risk of having a child with cystic fibrosis have been counselled about prenatal diagnosis by the use of linked DNA probes. Of the first 30 pregnancies 9 children have been born and confirmed to be free from CF, as predicted; 8 pregnancies were terminated (1 of these was found to be miscarrying at time of termination); 12 pregnancies, in which(More)
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