David I. Smith

TL;DR: The VHL gene is linked to the locus encoding the human homologoue of the RAF1 oncogene, which maps to chromosome 3p25 (ref. 4), which suggests that the defect responsible for the VHL phenotype is not a mutation in the RAF 1 gene itself.

TL;DR: Guimond et al. as mentioned in this paper used a symmetric average model in which both hemispheres are equally represented and thus left-right comparison is possible. But, the asymmetry of the human cortex requires that both left and right models of a structure be composed in order to effectively segment the desired structures.

TL;DR: To the knowledge, this is the first molecular characterization of an in vivo viral integration event within a confirmed fragile site region, supporting previous cytogenetic observations linking viral integration sites and fragile sites.

TL;DR: The high degree of sequence similarity and similar tissue distribution to rat CIC-2 suggests that this cDNA encodes the human C IC-2 voltage-gated chloride channel, which may be amenable to manipulation to circumvent the chloride secretion defect observed in CF.

TL;DR: There appears to be a dramatic clustering of chromosomal breakpoints at 3pl4.2 in and immediately distal to FRA3B in pancreatic cancer, and no homozygous deletions were detected in this region.