Epigenetic and genetic diagnosis of Silver-Russell syndrome

Expert Review of Molecular Diagnostics

Volumn 12, Issue 5, 2012, Pages 459-471

  Eggermann, Thomas ^a   Spengler, Sabrina ^a   Gogiel, Magdalena ^a   Begemann, Matthias ^a   Elbracht, Miriam ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

aberrant methylation; epimutation; genetic testing; Silver Russell syndrome; uniparental disomy

Indexed keywords

POTASSIUM CHANNEL KCNQ1; SOMATOMEDIN B;

ALLELE; CHROMOSOME 11; CHROMOSOME 11P; CHROMOSOME 15; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; DNA METHYLATION; DNA SEQUENCE; EPIGENETICS; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HISTONE ACETYLATION; HISTONE METHYLATION; HISTONE PHOSPHORYLATION; HISTONE UBIQUITINATION; HUMAN; KARYOTYPING; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SILVER RUSSELL SYNDROME;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 7; DNA METHYLATION; GENETIC TESTING; GENOTYPE; GROWTH DISORDERS; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 84862540114     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.12.43     Document Type: Review

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