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The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C-->T allele (rs2435357: p = 3.9 x 10(-43) in European ancestry; p = 1.1 x 10(-21) in Chinese samples) that(More)
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription thereby reducing expression of the protein. However, genotype-phenotype correlation is imperfect, and the(More)
Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent association study on chromosome 21 in Down syndrome patients(More)
Modelling contagious diseases needs to incorporate in the models information about social networks through which the disease spreads out as well as data about demographic and genetic changes in the susceptible population, and also to include mechanistic knowledge about contacts between hosts and pathogens. We will introduce all these elements in two(More)
BACKGROUND There is currently no guidance for selecting a specific difference to be detected in a superiority trial. We explored 3 factors that in our opinion should influence the difference to be detected (type of outcome, patient age group, and presence of treatment side-effects), and 3 that should not (baseline level of risk, logistical difficulties, and(More)
The secondary use of electronic health records opens up new perspectives. They provide researchers with structured data and unstructured data, including free text reports. Many applications been developed to leverage knowledge from free-text reports, but manual review of documents is still a complex process. We developed FASTVISU a web-based application to(More)
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