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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...

Cyclical variation in the incidence of childhood type 1 diabetes in Western Australia (1985-2010)

The objective was to examine the incidence of childhood type 1 diabetes in Western Australia from 1985-2010.

The effect of a short sprint on postexercise whole-body glucose production and utilization rates in individuals with type 1 diabetes mellitus

A sprint as short as 10 sec can increase plasma glucose levels in nondiabetic and T1DM individuals, with this rise resulting from a transient decline in...

Family functioning in families with a child with Down syndrome: A mixed methods approach

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.

Quantitation of IgE Binding to the Chitinase and Chitinase-Like House Dust Mite Allergens

The prevalence of IgE binding to the group 15 and 18 house dust mite (HDM) allergens of the Dermatophagoides species...

DNA Methylation Profiles of Airway Epithelial Cells and PBMCs from Healthy, Atopic and Asthmatic Children

Allergic inflammation is commonly observed in a number of conditions that are associated with atopy including asthma, eczema and rhinitis.

Wellcome Active Ingredients: Parenting Review

The aim of the current project is to explore view of youth with lived experiences and their caregiver on the role of parent/caregivers and family in the prevention and treatment of anxiety and depression in adolescents in low- and middle- income countries.

Behavior and mutation type

We also wanted to find out whether any particular behaviours were associated with any specific mutation types.

Refining the phenotype of common mutations

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.