Large-scale sequencing of the human genome is now under way (Boguski et al. 1996;
Marshall and Pennisi 1996). Although at the beginning of the Genome Project, many …

Sister-chromatid exchange (SCE) is the process whereby, during DNA replication, two sister
chromatids break and rejoin with one another, physically exchanging regions of the parental …

STROKE is the third leading cause of death, and vascular dementia the second cause of
dementia after Alzheimer's disease. CADASIL (for cerebral autosomal dominant arteriopathy …

Studies of hereditary cancer syndromes have contributed greatly to our understanding of
molecular events involved in tumorigenesis. Here we investigate the molecular background …

Peutz-Jeghers (PJ) syndrome is an autosomal-dominant disorder characterized by
melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an …

Diamond–Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by
absent or decreased erythroid precursors. The disease, previously mapped to human …

Reports the construction of the whole-genome bacterial artificial chromosome (BAC) map
and its integration with previous landmark maps and information from mapping efforts …

Genes associated with inherited retinal degeneration have been found to encode proteins
required for phototransduction, metabolism, or structural support of photoreceptors. Here we …

We describe here a previously unknown, dominantly inherited, late-onset basal ganglia
disease, variably presenting with extrapyramidal features similar to those of Huntington's …

Chromosome 19 has the highest gene density of all human chromosomes, more than
double the genome-wide average. The large clustered gene families, corresponding high …