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We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.
We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.
Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.
Research
CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
Research
Longitudinal bone mineral content and density in Rett syndrome and their contributing factorsBone mass and density are low in females with Rett syndrome.
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Pubertal trajectory in females with Rett syndrome: A population-based studyThe aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
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Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
Research
The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...