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Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

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A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome

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New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

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(2011) Anne C. Ferguson-Smith   NATURE REVIEWS GENETICS

BiQ Analyzer HT: locus-specific analysis of DNA methylation by high-throughput bisulfite sequencing

(2011) Pavlo Lutsik et al.   NUCLEIC ACIDS RESEARCH

Mammalian Genomic Imprinting

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Beckwith-Wiedemann syndrome

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(2009) M. S. Bartolomei   GENES & DEVELOPMENT

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

(2009) Julie Demars et al.   HUMAN MOLECULAR GENETICS

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

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

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

(2008) F. Cerrato et al.   HUMAN MOLECULAR GENETICS

Cohesin mediates transcriptional insulation by CCCTC-binding factor

(2008) Kerstin S. Wendt et al.   NATURE

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

(2008) Richard H Scott et al.   NATURE GENETICS

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

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