Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted loci in Silver-Russell syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 11, 2012, Pages

  Dias, Renuka P ^a   Bogdarina, Irina ^a   Cazier, Jean Baptiste ^b   Buchanan, Charles ^c   Donaldson, Malcolm C ^d   Johnston, Linda B ^a   Hokken Koelega, Anita C ^e   Clark, Adrian J L ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 7; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA METHYLATION; FEMALE; GENE; GENE DISRUPTION; GENE LOCUS; GENE REGULATORY NETWORK; GENETIC HETEROGENEITY; GENOME IMPRINTING; GRB10 GENE; HUMAN; MALE; PEG3 GENE; PHENOTYPE; PLAGL1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYROSEQUENCING; SCHOOL CHILD; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 7; DNA METHYLATION; FEMALE; GENETIC LOCI; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 84868613969     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1980     Document Type: Article

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