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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...
- MIR9-3 host gene NIPA2:
encoding protein Non-imprinted in Prader-Willi/
Angelman syndrome region protein 2 NUSAP1:
encoding protein Nucleolar and spindle...
- of Rett-like syndromes. Pitt-Hopkins
syndrome is
clinically similar to
Angelman syndrome, Rett-syndrome,
Mowat Wilson syndrome, and ATR-X syndrome. As...
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starting the
Colin Farrell Foundation in
dedication to his son James, who has
Angelman syndrome. The
organization provides support to
adults with intellectual...
-
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...
- 220.
Mutations within the UBE3A gene are
responsible for some
cases of
Angelman syndrome and Prader-Willi syndrome. Most of
these mutations result in an...
-
happy demeanor and a wide-based gait that can
sometimes be
confused with
Angelman syndrome. The
diagnosis of MWS
confirmed by
demonstrating a pathogenic...
- syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and
Angelman syndrome. The
chromosomal basis of Cri du chat
syndrome consists of a deletion...
- Alzheimer's disease.
Clinical trials have also
looked to
ketosis in
children for
Angelman syndrome.
Fatty acid
metabolism Cahill,
George F.; Veech,
Richard L. (2003)...
