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

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

(2009) Shin-Ichi Horike et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

Restriction Site-Specific Methylation Studies of Imprinted Genes with Quantitative Real-Time PCR

(2008) S. Bruce et al.   CLINICAL CHEMISTRY

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

(2008) Manuela Priolo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis

(2008) Marielle Alders et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting

(2008) Tomasz K. Wojdacz et al.   HUMAN MUTATION

IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

(2007) Michael Zeschnigk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS