Additional molecular findings in 11p15-associated imprinting disorders: An urgent need for multi-locus testing

Journal of Molecular Medicine

Volumn 92, Issue 7, 2014, Pages 769-777

  Eggermann, Thomas ^a   Heilsberg, Ann Kathrin ^a   Bens, Susanne ^b   Siebert, Reiner ^b   Beygo, Jasmin ^c   Buiting, Karin ^c   Begemann, Matthias ^a   Soellner, Lukas ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Chromosomal imbalances; Genetic testing; Imprinting disorders; Multi locus methylation defects; Uniparental disomies

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHILD; CHROMOSOME 11P; DNA METHYLATION; EPIGENETICS; GENE LOCUS; GENE MUTATION; GENOME IMPRINTING; HUMAN; MAJOR CLINICAL STUDY; MUTATION RATE; SILVER RUSSELL SYNDROME; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOME 11; GENETICS; MUTATION; SILVER-RUSSELL SYNDROME;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; GENOMIC IMPRINTING; HUMANS; MUTATION; SILVER-RUSSELL SYNDROME;

EID: 84903300881     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-014-1141-6     Document Type: Article

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