Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: Confirmation by cell cloning and identification of candidate downstream genes

Human Molecular Genetics

Volumn 12, Issue 20, 2003, Pages 2723-2732

  Horsthemke, Berndard ^a   Nazlican, Hülya ^a   Hüsing, Johannes ^a   Klein Hitpaß, Ludger ^a   Claussen, Uwe ^b   Michel, Susanne ^b   Lich, Christina ^a   Gillessen Kaesbach, Gabriele ^a   Buiting, Karin ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; PROTEIN PRECURSOR; RNA; SECRETOGRANIN II; SECRETONEURIN;

ARTICLE; BLOOD CELL; CASE REPORT; CELL CLONING; CHROMOSOME 15Q; DNA MICROARRAY; DOPAMINE RELEASE; EXPERIMENTATION; FEMALE; FIBROBLAST; FOOD; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC CODE; GENETIC DISORDER; GENETIC REGULATION; GENOME IMPRINTING; GENOTYPE; HUMAN; HUMAN CELL; HYPERPHAGIA; MODULATION; MOSAICISM; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REWARD; RNA ANALYSIS; SAMPLING; SKIN CELL; UNINDEXED SEQUENCE; UNIPARENTAL DISOMY; X CHROMOSOME INACTIVATION;

ADULT; ALLELES; CHILD, PRESCHOOL; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 15; CLONING, MOLECULAR; DNA; DNA METHYLATION; DOPAMINE; DOSAGE COMPENSATION, GENETIC; FIBROBLASTS; GENOMIC IMPRINTING; GENOTYPE; HUMANS; MICROSATELLITE REPEATS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PLACENTA; PRADER-WILLI SYNDROME; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SKIN; UNIPARENTAL DISOMY;

EID: 0142185334     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg291     Document Type: Article

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