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

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

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

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

(2011) Nicoletta Chiesa et al.   HUMAN MOLECULAR 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

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

Beckwith–Wiedemann syndrome

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

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

(2009) J. Bliek et al.   European Journal of Medical 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

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

(2009) Laura Cardarelli et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

(2008) Manuela Priolo 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