MS 2000 num. 04 http://hdl.handle.net/10608/274 2026-04-13T13:40:33Z 2026-04-13T13:40:33Z Brèves http://hdl.handle.net/10608/1700 2019-03-20T10:34:18Z 2000-01-01T00:00:00Z Brèves 2000-01-01T00:00:00Z Les gènes modificateurs dans les maladies héréditaires. Feingold, J http://hdl.handle.net/10608/1699 2019-03-20T10:34:14Z 2000-01-01T00:00:00Z Les gènes modificateurs dans les maladies héréditaires. Feingold, J Many hereditary diseases are phenotypically variable. The phenotype can be more or less severe between families and within families. Three main factors can cause this phenotypic variability: allelic and non allelic heterogeneity, modifying genes, environmental differences. Modifiying genes which, while not causing the disease may be related to its severity. The modifiying genes can concern a qualitative feature of the disease, i.e. different subsets of organs can be affected, or a quantitative one, a different age of onset can be noted. Three groups of modifier genes can be considered: (1) Allelic or heteroallelic variants of the deleterious gene. (2) Genes very closely linked to the deleterious allele (chromosomal background). (3) non allelic genes. Strategies for the identification of modifiying genes are similar to those used in genetic epidemiology. Two methods are used, association studies and affected sibling pairs analysis. In both cases the candidate gene approache is privileged. Understanding the pathogenesis of a disease and/or animal models may provide clues to likely candidate genes. [References: 28] 2000-01-01T00:00:00Z Un nouveau gène de fusion dans les leucémies aiguës promyélocytaires. Philippe, C Arnould, C Bourdon, V Grégoire, MJ Berger, R Jonveaux, P http://hdl.handle.net/10608/1697 2019-03-20T10:34:23Z 2000-01-01T00:00:00Z Un nouveau gène de fusion dans les leucémies aiguës promyélocytaires. Philippe, C; Arnould, C; Bourdon, V; Grégoire, MJ; Berger, R; Jonveaux, P 2000-01-01T00:00:00Z PREVENT, le premier essai de thérapie génique randomisé dans le traitement des maladies artérielles. Allaire, E Desgranges, P Cron, J d'Audiffret, A Mellière, D Becquemin, JP http://hdl.handle.net/10608/1698 2019-03-20T10:34:17Z 2000-01-01T00:00:00Z PREVENT, le premier essai de thérapie génique randomisé dans le traitement des maladies artérielles. Allaire, E; Desgranges, P; Cron, J; d'Audiffret, A; Mellière, D; Becquemin, JP 2000-01-01T00:00:00Z