-
Angelman syndrome (AS) is a
genetic disorder that
mainly affects the
nervous system.
Symptoms include a
small head and a
specific facial appearance, severe...
-
Harry Angelman (13
August 1915 – 8
August 1996) was a
British consultant paediatrician who
identified and
named Angelman syndrome.
Angelman was born in...
-
chance of the next
child being affected. A
similar mechanism occurs in
Angelman syndrome,
except the
defective chromosome 15 is from the mother, or two...
-
starting the
Colin Farrell Foundation in
dedication to his son James, who has
Angelman syndrome. The
organization provides support to
adults with intellectual...
-
synthetic analog of
cyclic glycine-proline and
experimental drug
developed for
Angelman syndrome, Phelan-McDermid syndrome, Pitt
Hopkins syndrome, and Prader-Willi...
-
Angelman syndrome. It is
taken by mouth. As of June 2024,
alogabat is in
phase 2
clinical trials for
pervasive developmental disorders and
Angelman syndrome...
- MIR9-3 host gene NIPA2:
encoding protein Non-imprinted in Prader-Willi/
Angelman syndrome region protein 2 NUSAP1:
encoding protein Nucleolar and spindle...
- Non-imprinted in Prader-Willi/
Angelman syndrome region protein 1 NIPA2, a gene in
humans that
encodes Non-imprinted in Prader-Willi/
Angelman syndrome region protein...
-
normal development.
Human diseases involving genomic imprinting include Angelman, Prader–Willi, and Beckwith–Wiedemann syndromes.
Methylation defects have...
- syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and
Angelman syndrome. The
chromosomal basis of Cri du chat
syndrome consists of a deletion...
