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Research
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
Research
HPV prevalence in Canberra high school students: significance for vaccination strategies and adolescent healthHPV prevalence in Canberra high school students: significance for vaccination strategies and adolescent health.
Research
A comparison of booster immunisation with a combination DTPa-IPV vaccine or DTPa plus IPV in separate injections when co-administered with MMRThis study evaluated GSK's combined DTPa-IPV vaccine (Infanrix-IPV) given as a fifth consecutive acellular pertussis booster dose in conjunction...
Research
Toll-like receptor 2 ligands inhibit Th2 responses to mite allergenThere is intense interest in the interaction between microbial compounds and allergy.
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Immunogenicity and boosting following a reduced number of doses of a Pneumococcal Conjugate Vaccine in infants and toddlersThe minimum number of doses of pneumococcal conjugate vaccine required for protection is not known. We studied the immunogenicity of a reduced schedule in...
Research
The association between behaviour and genotype in Rett Syndrome using the Australian Rett Syndrome DatabaseThis study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome...
Research
Ngulluk Moort, Ngulluk Boodja, Ngulluk Wirin (our family, our country, our spirit): An Aboriginal Participatory Action Research study protocolWe are working with the leadership and staff at foster care agencies and community members to provide information about cultural connection, and cultural activity and resources for Aboriginal children living in non-Aboriginal care arrangements.
Research
Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 DiabetesContinuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking.
Research
Rebooting the anal sphincter: A retrospective cohort of children with intractable constipation receiving intrasphincteric botox injectionsChronic childhood constipation is a common problem that severely impacts quality of life. Recently, the efficacy of intrasphincteric botulinum toxin (botox) injection in breaking the cycle of constipation has been demonstrated. The current study aims to investigate response rate to treatment, symptom and examination finding associations, and identify associations between patient characteristics and outcome.
Research
Vision loss and diabetic retinopathy prevalence and risk among a cohort of Indigenous and non-Indigenous Australians with type 2 diabetes receiving renal haemodialysis treatmentDiabetic nephropathy, vision loss and diabetic retinopathy are frequent comorbidities among individuals with type 2 diabetes (T2D). The Retinopathy in People Currently On Renal Dialysis study sought to examine the epidemiology and risk of vision impairment and among a cohort of Indigenous and non-Indigenous Australians with T2D currently receiving haemodialysis for end-stage renal failure.