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MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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...
A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
Andrew Helen Jenny Peter Videos Whitehouse Watch and listen to Andrew Leonard Downs Jacoby PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc
IDEA is one of the few population-based resources in the world dedicated to intellectual disability. The IDEA database contains information on all children born in Western Australia since 1983 who have been identified with having an intellectual disability. Individuals with autism spectrum disorder, both with and without intellectual disability, are also included in the database. Deidentified information is accessed from the Department of Communities WA, the WA Department of Education, and the National Disability Insurance Agency (NDIA) to create the database. IDEA can be linked to other datasets to facilitate research into the determinants, outcomes and service needs of children and adults with intellectual disability. Researchers can apply for such linked data, available in a de-identified format under approval from an ethics committee.
IDEA is one of the few population-based resources in the world dedicated to intellectual disability. The IDEA database contains information on all children born in Western Australia since 1983 who have been identified with having an intellectual disability. Individuals with autism spectrum disorder, both with and
Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Emma Helen Glasson Leonard BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@
The MINERvA Network will allow more accurate and precise determination of the contributions of familial and environmental factors to the etiology of autism.