A novel large deletion of the ICR1 region including H19 and putative enhancer elements

Molecular Findings in Beckwith-Wiedemann Syndrome

(2013) SANAA CHOUFANI et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

(2013) Fiorella Gurrieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Looking for CDKN1C enhancers

(2013) Flavia Cerrato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evidence for anticipation in Beckwith–Wiedemann syndrome

(2013) Siren Berland et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

(2013) Berivan Baskin et al.   HUMAN GENETICS

Altered methylation of IGF2 DMR0 is associated with neural tube defects

(2013) Lihua Wu et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

(2012) Jasmin Beygo et al.   HUMAN MOLECULAR GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

(2011) Agostina De Crescenzo et al.   European Journal of Medical Genetics

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

(2011) Julie Demars et al.   HUMAN MUTATION

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

(2011) K. Gronskov et al.   JOURNAL OF MEDICAL GENETICS

An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C

(2011) Elizabeth Algar et al.   PLoS One

Mechanisms of imprint dysregulation

(2010) Bernhard Horsthemke   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN 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

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

(2009) M. Zollino et al.   JOURNAL OF MEDICAL GENETICS

Severe Intrauterine Growth Retardation and Atypical Diabetes Associated with a Translocation Breakpoint Disrupting Regulation of the Insulin-Like Growth Factor 2 Gene

(2008) R. Murphy et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

(2008) Adele Murrell et al.   PLoS One