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Research

Soluble Glycoprotein VI Is Raised in the Plasma of Patients With Acute Ischemic Stroke

schemic stroke induced by thrombosis may be triggered by atherosclerotic plaque rupture and collagen-induced platelet activation. Collagen induces...

Research

Variation over time in medical conditions and health service utilization of children with Down syndrome

Variation over time in medical conditions and health service utilization of children with Down syndrome.

Research

Variants near CCNL1/LEKR1 and in ADCY5 and Fetal Growth Characteristics in Different Trimesters

A recent genome-wide association study identified variants near CCNL1/LEKR1 (rs900400) and in ADCY5 (rs9883204) to be associated with birth weight.

Research

High incidence of obesity co-morbidities in young children: A cross-sectional study

The prevalence of overweight and obesity in children is a public health problem because of future morbidity.

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.