Exhaustive methylation analysis revealed uneven profiles of methylation atIGF2/ICR1/H1911p15 loci in Russell Silver syndrome

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

(2014) Walid Abi Habib et al.   HUMAN MOLECULAR GENETICS

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

(2014) Salah Azzi et al.   HUMAN MUTATION

Sox-Oct motifs contribute to maintenance of the unmethylated H19 ICR in YAC transgenic mice

(2013) Ryuuta Sakaguchi et al.   HUMAN MOLECULAR GENETICS

Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

(2013) Stéphanie Maupetit-Méhouas et al.   HUMAN MUTATION

CDKN1Cmutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

(2013) F Brioude et al.   JOURNAL OF MEDICAL GENETICS

Induced DNA demethylation can reshape chromatin topology at the IGF2-H19 locus

(2013) Yoko Ito et al.   NUCLEIC ACIDS RESEARCH

Oct4/Sox2 Binding Sites Contribute to Maintaining Hypomethylation of the Maternal Igf2/H19 Imprinting Control Region

(2013) David L. Zimmerman et al.   PLoS One

Beckwith–Wiedemann and Russell–Silver Syndromes

(2013) Salah Azzi et al.   Current Opinion in Endocrinology Diabetes and Obesity

Epigenetic and genetic diagnosis of Silver–Russell syndrome

(2012) Thomas Eggermann et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Induction of DNA Demethylation Depending on Two Sets of Sox2 and Adjacent Oct3/4 Binding Sites (Sox-Oct Motifs) within the MouseH19/Insulin-like Growth Factor 2 (Igf2) Imprinted Control Region

(2012) Naohiro Hori et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome

(2012) Kai Kannenberg et al.   Clinical Epigenetics

CTCF function is modulated by neighboring DNA binding factors

(2011) Oliver Weth et al.   Biochemistry and Cell Biology

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

(2011) Rebecca L Poole et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome

(2011) Raffaella Nativio et al.   HUMAN MOLECULAR GENETICS

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

(2010) Salah Azzi et al.   HUMAN MUTATION

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

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