With uniparental disomy (UPD), the presence in a diploid genome of a chromosome pair derived from one genitor carries two main types of developmental risk: the inheritance of a recessive trait or the ...
Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and ...
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 ...
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 ...
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 ...
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. Researchers delivered engineered ...
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 ...
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