Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2012
• September 2012

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

This paper discusses the rising prevalence of allergic disease in children. This review article considers recent findings in the field of paediatric immune... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• October 2015

Nick Gottardo NG MBChB FRACP PhD Co-Head, Brain Tumour Research nicholas.gottardo@telethonkids.org.au Co-Head, Brain Tumour Research Professor Nick Gottardo co-leads the Brain Tumour Research Programme at the Telethon Kids Institute. He is also Head ...

• 1. Telethon Kids Institute
• Projects

Genetic predisposition to proteome instability may be a determinant in the pathogenesis of paediatric brain cancers ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• April 2020

In asthma, a significant portion of the interaction between genetics and environment occurs through microbiota. The proposed mechanisms behind this interaction are complex and at times contradictory. This review covers recent developments in our understanding of this interaction: the "microbial hypothesis" and the "farm effect"; the role of endotoxin and genetic variation in pattern recognition systems; the interaction with allergen exposure; the additional involvement of host gut and airway microbiota; the role of viral respiratory infections in interaction with the 17q21 and CDHR3 genetic loci; and the importance of in utero and early-life timing of exposures. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• March 2021

We investigated the potential association of maternal coffee and tea consumption during pregnancy with childhood acute myeloid leukemia risk ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• October 2019

We show that vlincRNAs genes likely function in cis to activate nearby genes ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• January 2016

Skin exposure to ultraviolet radiation alters the faecal microbiome, and further investigations to explore the implications of this in health and disease are warranted ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• August 2018

Childhood acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and brain tumors (CBTs) are the leading cause of cancer death in... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013

We found no evidence of positive associations between risk of childhood brain tumours overall and childhood or parental pre-pregnancy radiological procedures. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• January 2014