The term uniparental disomy was originally used by Eric Engel [1] in 1980. Under normal circumstances humans have 22 pairs of autosomes and 1 pair of sex chromosomes, one of each homologous pair ...

Homozygous mutant cells can be generated from embryonic stem (ES) cells with a single insertion of a drug-resistance marker by increasing the concentration of the selection drug. In the March Nature ...

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 ...

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 ...

After 20 years, a patient's family received an answer to a decades-long genetic mystery. Their daughter had two rare disorders, Angelman syndrome and P450scc deficiency, which was detected after ...