We identified several novel candidate genes which warrant further analysis in cohorts matched more precisely for clinical phenotypes. ...

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

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

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

Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

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

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan... ...

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

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation ...

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

These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• June 2017

These findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU... ...

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

We performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with... ...

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

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2... ...

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

Mapping murine genes controlling cutaneous leishmaniasis (CL) identified Fli1 as a candidate influencing resistance to L. major and enhanced wound healing. ...

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

Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified... ...

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

Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing... ...

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