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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Independent effects of socioeconomic status and place of residence on the incidence of type 1 diabetes in Western Australia

To analyze the incidence of type 1 diabetes in 0- to 14-year olds in Western Australia, from 1985 to 2002, by region and socioeconomic status.

Study protocol for a self-controlled cluster randomised trial of the Alert Program to improve self-regulation and executive function in Australian Aboriginal children

This trial is evaluating the effectiveness of an Alert Program school curriculum for improving self-regulation and executive function in children living in remote Australian Aboriginal communities

Fetal alcohol spectrum disorder and youth justice: a prevalence study among young people sentenced to detention in Western Australia

This study of young people in detention in Western Australia, has documented a high prevalence of FASD and severe neurodevelopmental impairment

MatCH (Mothers and their Children’s Health) Profile: offspring of the 1973-78 cohort of the Australian Longitudinal Study on Women’s Health

MatCH is an Australian study to investigate the links between the health, wellbeing and living conditions of mothers and the health and development of their children

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

ASD's are complex, pervasive and heterogeneous neurodevelopmental conditions with varying conditions, trajectories, significant male bias and unknown etiology.

High-dose intramuscular Vitamin D provides long-lasting moderate increases in serum 25-hydroxVitamin D levels and shorter-Term changes in plasma calcium

Intramuscular injection of a large bolus of Vitamin D effectively increases serum 25-hydroxyVitamin D levels without evidence of metabolic abnormality.