Page last updated: 2024-10-20

uracil and Angelman Syndrome

uracil has been researched along with Angelman Syndrome in 1 studies

2,4-dihydroxypyrimidine: a urinary biomarker for bipolar disorder

Angelman Syndrome: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Matin, MM1
Baumer, A1
Hornby, DP1

Other Studies

1 other study available for uracil and Angelman Syndrome

ArticleYear
An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC.
    Human mutation, 2002, Volume: 20, Issue:4

    Topics: Ampicillin Resistance; Angelman Syndrome; Base Sequence; Chromatography, High Pressure Liquid; Chrom

2002