Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN 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

Silver-Russell syndrome

(2011) E. L. Wakeling   ARCHIVES OF DISEASE IN CHILDHOOD

CTCF function is modulated by neighboring DNA binding factors

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

Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann Syndromes

(2011) J. Demars et al.   CURRENT MEDICINAL CHEMISTRY

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

(2011) Susanne E Boonen 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

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

In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions

(2011) Simon Quenneville et al.   MOLECULAR CELL

Impact of the Genome on the Epigenome Is Manifested in DNA Methylation Patterns of Imprinted Regions in Monozygotic and Dizygotic Twins

(2011) Marcel W. Coolen et al.   PLoS One

A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript

(2011) P. Onyango et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus

(2011) Y. J. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

(2010) Claire Louise Susan Turner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Allele-specific DNA methylation: beyond imprinting

(2010) B. Tycko   HUMAN MOLECULAR GENETICS

Upregulation of c-MYC in cis through a Large Chromatin Loop Linked to a Cancer Risk-Associated Single-Nucleotide Polymorphism in Colorectal Cancer Cells

(2010) J. B. Wright et al.   MOLECULAR AND CELLULAR BIOLOGY

Genomic imprinting in germ cells: imprints are under control

(2010) Philippe Arnaud   REPRODUCTION

Variation in Transcription Factor Binding Among Humans

(2010) M. Kasowski et al.   SCIENCE

Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans

(2010) R. McDaniell et al.   SCIENCE

The function of non-coding RNAs in genomic imprinting

(2009) M. V. Koerner et al.   DEVELOPMENT

H19 acts as a trans regulator of the imprinted gene network controlling growth in mice

(2009) A. Gabory et al.   DEVELOPMENT

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

(2009) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Beckwith–Wiedemann syndrome

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

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

(2009) Sabrina Spengler et al.   European Journal of Medical 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

MBD3 mutations are not responsible for ICR1 hypomethylation in Silver–Russell syndrome

(2009) Nadine Bachmann et al.   European Journal of Medical Genetics

Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures

(2009) Thomas Eggermann   Hormone Research in Paediatrics

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

Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals

(2009) Amandine Henckel 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

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

Chromatin mechanisms in genomic imprinting

(2009) Slim Kacem et al.   MAMMALIAN GENOME

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

(2009) Mary E. Donohoe et al.   NATURE

No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation

(2009) Jeremiah Bernier-Latmani et al.   PLoS One

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

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

Cohesin Is Required for Higher-Order Chromatin Conformation at the Imprinted IGF2-H19 Locus

(2009) Raffaella Nativio et al.   PLoS Genetics

Epigenetics in Silver-Russell syndrome

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

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

(2008) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

(2008) Susanne E Boonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

(2008) D. Lim et al.   HUMAN REPRODUCTION

Genomic imprinting mechanisms in mammals

(2008) Folami Y. Ideraabdullah et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS

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

(2008) Richard H Scott et al.   NATURE GENETICS