A rapid microarray based whole genome analysis for detection of uniparental disomy

Human Mutation

Volumn 26, Issue 2, 2005, Pages 153-159

  Altug Teber, Özge ^a   Dufke, Andreas ^a   Poths, Sven ^a   Mau Holzmann, Ulrike Angelika ^a   Bastepe, Murat ^b   Colleaux, Laurence ^c   Cormier Daire, Valérie ^c   Eggermann, Thomas ^d   Gillessen Kaesbach, Gabriele ^e   Bonin, Michael ^a   Riess, Olaf ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d RWTH AACHEN UNIVERSITY   (Germany)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Angelman; AS; Beckwith Wiedemann; Microarray; PHP; Prader Willi; Pseudohypoparathyroidism; PWS; Silver Russell; SNP; SRS; Uniparental disomy

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COST EFFECTIVENESS ANALYSIS; DNA MICROARRAY; GENE MAPPING; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

ANGELMAN SYNDROME; BECKWITH-WIEDEMANN SYNDROME; FEMALE; GENETIC MARKERS; GENETIC TECHNIQUES; GENOME, HUMAN; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PRADER-WILLI SYNDROME; SEQUENCE ANALYSIS, DNA; TIME FACTORS; UNIPARENTAL DISOMY;

EID: 22844445143     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20198     Document Type: Article

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