Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 180-188

  Beygo, Jasmin ^a   Elbracht, Miriam ^b   De Groot, Karel ^c   Begemann, Matthias ^b   Kanber, Deniz ^a   Platzer, Konrad ^d   Gillessen Kaesbach, Gabriele ^d   Vierzig, Anne ^e   Green, Andrew ^f,g   Heller, Raoul ^e   Buiting, Karin ^a   Eggermann, Thomas ^b  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c MRC HOLLAND   (Netherlands)

^d UNIVERSITY OF LÜBECK   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^g UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 14Q; CPG ISLAND; DNA METHYLATION; FEMALE; GENE; GENE CLUSTER; GENE DELETION; GENE DOSAGE; GENE SEQUENCE; HUMAN; MALE; MEG3 GENE; MOSAICISM; MUSCLE HYPOTONIA; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; UNIPARENTAL DISOMY; ADULT; CASE REPORT; CHROMOSOME 14; GENETICS; GENOME IMPRINTING; INFANT; PEDIGREE;

LONG UNTRANSLATED RNA; MEG3 NON-CODING RNA, HUMAN;

ADULT; CHROMOSOMES, HUMAN, PAIR 14; CPG ISLANDS; DNA METHYLATION; FEMALE; GENE DELETION; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; PEDIGREE; RNA, LONG NONCODING;

EID: 84921403306     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.72     Document Type: Article

References (23)

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