A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype

(2015) Julia Kolarova et al.   European Journal of Medical Genetics

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

(2015) Thomas Eggermann et al.   Clinical Epigenetics

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

(2014) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

(2014) F. Court et al.   GENOME RESEARCH

Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing

(2014) Thomas Eggermann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Characterization of the human cumulus cell transcriptome during final follicular maturation and ovulation

(2014) G.M. Yerushalmi et al.   MOLECULAR HUMAN REPRODUCTION

Angelman syndrome imprinting center encodes a transcriptional promoter

(2014) Michael W. Lewis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Clinical utility gene card for: Beckwith–Wiedemann Syndrome

(2013) Thomas Eggermann 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

Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing

(2013) Zhigang Xue et al.   NATURE

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

(2012) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome

(2011) Adriano Bonaldi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus

(2011) Emily Y. Smith et al.   PLoS Genetics

Beckwith-Wiedemann syndrome

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

Gene expression profiles of single human mature oocytes in relation to age

(2010) M.L. Grøndahl et al.   HUMAN REPRODUCTION

Beckwith–Wiedemann syndrome

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

Transcription is required for establishment of germline methylation marks at imprinted genes

(2009) M. Chotalia et al.   GENES & DEVELOPMENT

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