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Research

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

Research

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Research

Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983-1999: A population-based cohort study

ID and/or ASD were found to be associated with an increased risk of hospitalisation compared with the remainder of the population.

Research

Parental smoking and risk of childhood brain tumors

Childhood brain tumors (CBT) are the leading cause of cancer death in children, yet their etiology remains largely unknown.

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Familial aggregation of malignant mesothelioma in former workers and residents of Wittenoom, Western Australia

Clustering of cases of malignant mesothelioma within families has often been observed, but disentangling genetic and exposure effects has not been done.

Research

Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors

Childhood acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and brain tumors (CBTs) are the leading cause of cancer death in...

Research

A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family

We performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...

Research

Long-term effects of aluminium dust inhalation

We investigated the association between aluminium dust inhalation and cardiovascular, cerebrovascular and Alzheimer's diseases in a cohort of Australian male...

Research

Assessment of early bronchiectasis in young children with cystic fibrosis is dependent on lung volume

The aim of this study was to determine whether assessment of early CT scan-detected bronchiectasis in young children with cystic fibrosis (CF) depends on...