Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

Human Mutation

Volumn 32, Issue 2, 2011, Pages 249-258

  Azzi, Salah ^a   Steunou, Virginie ^a   Rousseau, Alexandra ^b   Rossignol, Sylvie ^a   Thibaud, Nathalie ^a   Danton, Fabienne ^a   Le Jule, Marilyne ^a   Gicquel, Christine ^c   Le Bouc, Yves ^a   Netchine, Irène ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

Author keywords

Beckwith Wiedemann; CDKN1C; DNA methylation; H19; ICR1; ICR2; IGF2; Imprinting disorders; KCNQ1; Russell Silver

Indexed keywords

ALLELE SPECIFIC METHYLATED MULTIPLEX REAL TIME QUANTITATIVE POLYMERASE CHAIN REACTION; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CONTROLLED STUDY; DNA METHYLATION; GENE EXPRESSION; GENE SEQUENCE; GENOME IMPRINTING; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SILVER RUSSELL SYNDROME; SOUTHERN BLOTTING;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; GENOMIC IMPRINTING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SILVER-RUSSELL SYNDROME;

EID: 79551551535     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21403     Document Type: Article

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