Peter Avery

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BACKGROUND Obesity is a major public health problem. Body mass index (BMI) is a highly heritable phenotype but robust associations of genetic polymorphisms to BMI or other obesity-related phenotypes have been difficult to establish. Recently a large genetic association study showed evidence for association of the single nucleotide polymorphism (SNP)(More)
In order to examine whether certain short DNA sequences (putative splice signals) occurred in a certain region of an intron more often than would be expected by chance, intron data were examined to see what structure they took. There were significant departures from equal nucleotide frequency, and successive nucleotides clearly did not occur independently(More)
Congenital cardiovascular malformation (CVM) exhibits familial predisposition, but most of the specific genetic factors involved are unknown. Postulating that rare variants in genes in critical cardiac developmental pathways predispose to CVM, we systematically surveyed three genes of the bone morphogenetic protein (BMP) signaling pathway for novel(More)
BACKGROUND Blood pressure (BP) has significant heritability, but the genes responsible remain largely unknown. Single nucleotide polymorphisms (SNPs) at the STK39 locus were recently associated with hypertension by genome-wide association in an Amish population; in vitro data from transient transfection experiments using reporter constructs suggested that(More)
Aggregation chimaeras and X-inactivation mosaics in mice are alike in general appearance, but chimaeras are very much more variable in the proportions of the cell types (p) seen for example in coat pigmentation. The distribution of p in chimaeras is not binomial, but is uniform, or flat, between the two extremes. The greater variability of chimaeras arises(More)
This report covers the findings from an evaluation of a prototype map retrieval system developed for the Adirondack Park Agency. The report reviews data needs and data availability to inform a data development strategy for the future. It also presents an analysis of the costs and benefits which can be expected from implementation of a full system to support(More)
Advances in genotype technology in the last decade have put the pharmacogenomics revolution at the forefront of future medicine in clinical practice. Discovery of novel gene variations in drug transporters, drug targets, effector proteins and metabolizing enzymes in the form of single-nucleotide polymorphisms (SNPs) continue to provide insight into the(More)
OBJECTIVES To determine risk factors for revision in patients implanted with a commonly used metal on metal (MoM) hip replacement. DESIGN Retrospective cohort study in combination with a prospective national retrieval study (Northern Retrieval Registry (NRR)). SETTING Combined orthopaedic unit in combination with the NRR. PARTICIPANTS All patients(More)