Catherine Devaud

TL;DR: An enzymatic rather than a structural protein defect causing a muscular dystrophy is demonstrated, a defect that may have regulatory consequences, perhaps in signal transduction.

TL;DR: Four different approaches were pursued for the establishment of the physical map of this area which allowed the assembly of an uninterrupted YAC contig spanning an estimated 10-12 megabases, with an average STS resolution of 140 kb or for the 25 polymorphic microsatellites on this map, of 400 kb.

TL;DR: Linkage disequilibrium data on genetic isolates from the island of Réunion and from the Amish community suggest a preferential location of the LGMD2A gene in the proximal part of this region, and allelic heterogeneity is incompatible with the presumed existence of a founder effect.

TL;DR: A transcriptional map covering the FMF locus is presented that was constructed in the course of the positional cloning of the gene responsible for this disease and considerably increases the number of genes in this interval and improves knowledge concerning some of the genes or gene families present in this region.

TL;DR: This work represents the first attempt at an integration of the human physical, expression, and genetic maps of chromosome 15, which was subdivided into 5 regions, yielding an average resolution of more than 1 sequence tagged site per megabase.