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

The pluripotency factor Oct4 interacts with Ctcf and also controls X-chromosome pairing and counting

(2009) Mary E. Donohoe et al.   NATURE

Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain

(2009) Y. Kaufman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetics in Silver-Russell syndrome

(2008) Sylvie Rossignol et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies

(2008) Sara Bruce et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

(2008) D Bartholdi et al.   JOURNAL OF MEDICAL GENETICS

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2–H19 domain in bodies and placentas

(2008) Kazuki Yamazawa et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

CTCF Regulates Allelic Expression of Igf2 by Orchestrating a Promoter-Polycomb Repressive Complex 2 Intrachromosomal Loop

(2008) T. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

A Complex Deoxyribonucleic Acid Looping Configuration Associated with the Silencing of the MaternalIgf2Allele

(2008) Xinwen Qiu et al.   MOLECULAR ENDOCRINOLOGY

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

(2008) Richard H Scott et al.   NATURE GENETICS