Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

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

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

(2009) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

The Human Retinoblastoma Gene Is Imprinted

(2009) Deniz Kanber et al.   PLoS Genetics

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus

(2008) Jose I. Martin-Subero et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New insights into the biology and origin of mature aggressive B-cell lymphomas by combined epigenomic, genomic, and transcriptional profiling

(2008) J. I. Martin-Subero et al.   BLOOD

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

(2008) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Low frequency of imprinting defects in ICSI children born small for gestational age

(2008) Deniz Kanber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Maternal uniparental disomy 7 and Silver–Russell syndrome – Clinical update and comparison with other subgroups

(2008) Dieter Kotzot   European Journal of Medical Genetics

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS