Page last updated: 2024-10-17

cytosine and Angelman Syndrome

cytosine has been researched along with Angelman Syndrome in 4 studies

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 (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's2 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Matin, MM1
Baumer, A1
Hornby, DP1
Dean, W1
Lucifero, D1
Santos, F1
Zeschnigk, M1
Schmitz, B1
Dittrich, B1
Buiting, K1
Horsthemke, B1
Doerfler, W1
Schweizer, J1
Zynger, D1
Francke, U1

Reviews

1 review available for cytosine and Angelman Syndrome

ArticleYear
DNA methylation in mammalian development and disease.
    Birth defects research. Part C, Embryo today : reviews, 2005, Volume: 75, Issue:2

    Topics: Alleles; Angelman Syndrome; Animals; Beckwith-Wiedemann Syndrome; Blastocyst; Chromosomes, Human, X;

2005

Other Studies

3 other studies available for cytosine 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
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Human molecular genetics, 1997, Volume: 6, Issue:3

    Topics: 5-Methylcytosine; Angelman Syndrome; Autoantigens; Chromosomes, Human, Pair 15; Cloning, Molecular;

1997
In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit.
    Human molecular genetics, 1999, Volume: 8, Issue:4

    Topics: Alleles; Angelman Syndrome; Autoantigens; Binding Sites; Cell Line, Transformed; Chromatin; Chromoso

1999