To investigate the involvement of uniparental disomies (UPDs) in spontaneous abortion, the polymorphic patterns of microsatellites on each chromosome were analyzed in 164 cases of abortion.

Analysis of the molecular etiologies of SCID has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive ...

Before Natalie Nakles was born, before the egg from which she was conceived was even fully mature, something went slightly awry. The egg that would help form her ended up with two copies of chromosome ...

BRAF V600E mutations in benign and malignant peripheral nerve sheath tumors. Background: Gain or loss of chromosome arms are frequently detected in gastrointestinal stromal tumors (GISTs), and have ...

To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in the context of disease, but a new study from ...

An illustration of the genetic and expression map of the PWS critical region (15q11-q13). This figure illustrates the genomic structure of the PWS critical region on chromosome 15, showing the ...

In the February 15th issue of Genes & Development, Dr. K. John McLaughlin and colleagues report on their success in using uniparental embryonic stem cells to replace blood stem cells in mice.

A genomic analysis from 23andMe suggests that people inherit two copies of a chromosome from only one parent nearly twice as often as researchers had realized. A series of rodent experiments showed ...