Skip to content
The Kids Research Institute Australia logo
Donate

Search

Showing results for "preterm birth lungs"

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...

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

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...

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Resources for CIRCA DIEM Parents and Caregivers

The CIRCA DIEM Study is a clinical research study being coordinated by the Chronobiology Team at Telethon Kids Institute, who are based in Perth, Western Australia and involving research teams from around the world.

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

New gastrostomy insertion among children who require long-term enteral feeding support increased over the study period

Foundations of Lung Disease

The Foundations of Lung Disease Team is focused on improving the diagnosis, treatment, and lifelong care of childhood lung disease.

The COSI-2 Trial

Tobias Jenny Strunk Mountain MD, PhD, FRACP MBA MClinEpi Head, Neonatal Health Program Manager, Neonatal Health / Protect Trial tobias.strunk@

Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.

Breathe easy

Hope ahead for children with CF, as life expectancy continues to grow thanks to research.