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Research

Effects of Ser47-Point Mutation on Conformation Structure and Allergenicity of the Allergen of Der p 2, a Major House Dust Mite Allergen

The mutant Der p 2 had altered structure and reduced ability to stimulate pro-inflammatory responses and to bind IgE

Research

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors

Research

Increasing diversity within the Global Lung Function Initiative

The Global Lung Function Initiative has worked to develop all‐age, multi‐ethnic reference equations for the major clinical lung function tests

Research

The role of coping in the association between subclinical psychotic experiences and functioning: A within study replication in two independent adolescent samples

The within study replication consistently found that coping style mediates subclinical psychotic experiences and psychosocial functioning

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation

Gastrointestinal dysmotility in Rett syndrome

We reviewed literature and RettNet to explore firsthand perspectives of gastrointestinal issues in Rett Syndrome, then developed recommendations with experts.

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

We interviewed 21 families with a daughter with Rett Syndrome about aspects of their daughters' lives that were satisfying or challenging to them.

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

This study measured changes in bone density over time using dual energy x-ray absorptiometry (DEXA). Lean tissue or muscle mass (LTM) was also measured.

Using a large international sample to investigate epilepsy in Rett syndrome

Using a large sample size, we investigated the relationships between epilepsy and genotype, and the impact of medications used on seizure management.

Seizures in Rett syndrome: an overview from a one-year calendar study

We collected information on a monthly basis on the patterns of seizures and medications of 162 girls in the Australian Rett Syndrome study over a calendar year.