Molecular medicine began with Pauling's seminal work, which recognized sickle-cell
anemia as a molecular disease, and with Ingram's demonstration of a specific chemical …

Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes
on chromosome 7q11. 23, has long intrigued neuroscientists with its unique combination of …

▪ Abstract Cytogenetic imbalance in the newborn is a frequent cause of mental retardation
and birth defects. Although aneuploidy accounts for the majority of imbalance, structural …

Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a
heterozygous deletion of contiguous genes at 7q11. 23. Three large region-specific low …

Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …

The development of clinically useful drugs to modify brain neuropeptide activities is yielding
new therapeutic possibilities. Although psychiatric payoffs from the study of these systems …

Williams syndrome, due to a contiguous gene deletion at 7q11. 23, is associated with a
distinctive facial appearance, cardiac abnormalities, infantile hypercalcemia, and growth …

Meiotic recombination, which promotes proper homologous chromosome segregation at the
first meiotic division, normally occurs between allelic sequences on homologues. However …

Genomic disorders are a group of human genetic diseases caused by genomic
rearrangements resulting in copy-number variation (CNV) affecting a dosage-sensitive gene …

The knowledge that specific genetic diseases are caused by recurrent chromosomal
aberrations has indicated that genomic instability might be directly related to the structure of …