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Showing results for "early lung health"

Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett syndrome Database

Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

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...

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...

Couple leave lasting impact with gift in Will

It was during a time of grief that John Mearns was inspired to make a difference.

The Kids Research Institute Australia Cancer Centre Researcher wins Cancer Council WA Fellowship

Cancer Council WA has awarded a Post-Doctoral Fellowship to Dr Ben Wylie, for his project to help kids with sarcoma.

Premature babies at greater risk of childhood infection

New research has found children who are born even slightly premature or underweight are more likely to be hospitalised with an infection during their childhood

Genetic analysis reveals range of Rett syndrome

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome