Following last year's World Rett Syndrome Congress held in New Orleans, the 3rd European Rett Syndrome Conference was held in the Netherlands over 3 days. ...

• Rett syndrome and Related Disorders
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CMT4D disease is a severe autosomal recessive demyelinating neuropathy with extensive axonal loss leading to early disability ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• June 2011

The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially... ...

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

Sarcomeric gene mutations are associated with the development of hypertrophic cardiomyopathy (HCM). Current drug therapeutics for HCM patients are effective in relieving symptoms, but do not prevent or reverse disease progression. Moreover, due to heterogeneity in the clinical manifestations of the disease, patients experience variable outcomes in response to therapeutics. ...

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

Rearrangement of the mixed-lineage leukemia gene (MLL) is found in 80% of infant acute lymphoblastic leukemia (ALL) and is associated with poor prognosis and re ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2010
• October 2010

Our data indicate epigenetic dysregulation in the early stages of signal transduction through the T cell receptor complex, and likely reflects pathways modified by gene-environment interactions in food allergy ...

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

Mycobacterium avium subsp. avium (Maa) and M. avium subsp. hominissuis (Mah) are environmental mycobacteria and significant opportunistic pathogens. ...

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

Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. ...

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

Investigators: Peter Le Souef Project description There have been almost no studies of the first illness caused by HIV infection. We have recruited ...

• 1. Telethon Kids Institute
• Projects

Honorary Emeritus Fellow ...

• 1. Telethon Kids Institute
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