The sequence of chromosome 21 was a turning point for the understanding of Down
syndrome. Comparative genomics is beginning to identify the functional components of the …

The exploration of quantitative variation in human populations has become one of the major
priorities for medical genetics. The successful identification of variants that contribute to …

MicroRNA (miRNA) transfer via exosomes may mediate cell-to-cell communication. Interestingly,
specific miRNAs are enriched in exosomes in a cell-type-dependent fashion. However, …

OBJECTIVE: In this study we used national data to determine changes in the prevalence of
hospital admissions for medically complex children over a 15-year period. PATIENTS AND …

Significant advances have been made recently toward understanding the molecular events
that regulate adipocyte differentiation.In vitromodels of adipogenesis, such as the 3T3-L1 …

The sequence of the tandem repeat sequence (D4Z4) associated with facioscapulohumeral
muscular dystrophy (FSHD) has been determined: each copy of the 3.3 kb repeat contains …

Down syndrome (DS) is one of the most frequent congenital birth defects, and the most
common genetic cause of mental retardation. In most cases, DS results from the presence of an …

The production of mature germ cells capable of generating totipotent zygotes is a highly
specialized and sexually dimorphic process. The transition from diploid primordial germ cell to …

The gene encoding the insulin-like growth-factor type-2 receptor (Igf2r) is maternally
expressed and imprinted 1. A CpG island in Igf2r intron 2 that carries a maternal-specific …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical …