open chromosomes have a maternal pattern. Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation ...

We each get two copies of every gene - one copy from each of our parents. But what happens when one of these genes has been "turned off", or imprinted, and the remaining gene is defective?

How and where in the genome a cancer chemotherapy agent acts on and 'un-silences' the epigenetically silenced gene that causes Angelman syndrome ... It's not just about the chromosomes, but ...

Angelman syndrome, which affects 1 in 15,000 people, is a rare neurogenetic disorder that stems from a mutation or deletion ...

but lack features of RS owing to favorable skewing of X-chromosome inactivation. Females with features of Angelman syndrome represent the close clinical overlap during early childhood between the ...

UBE3A is located on chromosome 15. Mutations that delete the gene or change its structure, function or activity can cause Angelman syndrome. In many cases, a mutation develops spontaneously on the ...

Angelman syndrome affects one in every 10,000 to 12,000 births ... Angelman and Prader-Willi are inherited syndromes; Rett involves a mutation in the X chromosome and affects females almost ...