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Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniae

Delayed development of antibodies to S. pneumoniae in infancy is associated with the development of atopy and asthma.

Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.

First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes

A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians.

Morbidity due to acute lower respiratory infection in children with birth defects: A total population-based linked data study

Children with birth defects experience higher rates of hospitalisation for ALRIs before age 2 years than children with no birth defects.

Gaps in Indigenous disadvantage not closing: A census cohort study of social determinants of health in Australia, Canada, and New Zealand from 1981-2006

Australia, Canada, and New Zealand are all developed nations that are home to Indigenous populations which have historically faced poorer outcomes than their...

Trends in sugar supply and consumption in Australia: is there an Australian Paradox?

High consumption of refined carbohydrate, in particular sugar, has been identified as a possible contributory factor in greater risk of excess weight gain.

Efficacy of acute myeloid leukemia therapy without stem-cell transplantation in a child with blastic plasmacytoid dendritic cell neoplasm

Our case demonstrates that AML therapy, without HSCT, can be sufficient to treat this rare disease in children.

Genetic Research and Aboriginal and Torres Strait Islander Australians

Human genetic research promises to deliver a range of health benefits to the population. Here we consider how the different levels of Indigenous research...

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil

Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing...