Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

ZNF445 is a primary regulator of genomic imprinting

(2019) Nozomi Takahashi et al.   GENES & DEVELOPMENT

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

(2019) Federica Maria Valente et al.   GENETICS IN MEDICINE

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

(2019) Florian Kraft et al.   Clinical Epigenetics

Association of four imprinting disorders and ART

(2019) Hiromitsu Hattori et al.   Clinical Epigenetics

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

(2019) Jasmin Beygo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cover Image, Volume 179A, Number 4, April 2019

(2019) Kelly A. Duffy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The long non-coding RNA H19: an active player with multiple facets to sustain the hallmarks of cancer

(2019) Clément Lecerf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Long Noncoding RNAs in Pathological Cardiac Remodeling: A Review of the Update Literature

(2019) Huan Zhou et al.   Biomed Research International

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

(2019) Kelly A. Duffy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management

(2019) Katharina Wesseler et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

(2018) Frédéric Brioude et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

(2018) John P. Johnson et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

(2018) Frédéric Brioude et al.   Nature Reviews Endocrinology

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

(2018) Andrea Freschi et al.   PLoS Genetics

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

(2018) Angela Sparago et al.   Clinical Epigenetics

Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann Syndrome

(2018) S. J. Tunster et al.   Disease Models & Mechanisms

Can assisted reproductive technologies cause adult-onset disease? Evidence from human and mouse

(2017) Lisa A. Vrooman et al.   REPRODUCTIVE TOXICOLOGY

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

(2017) Sangeetha Mahadevan et al.   Scientific Reports

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

(2016) Ho-Ming Luk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fetal growth patterns in Beckwith-Wiedemann syndrome

(2016) A. Mussa et al.   CLINICAL GENETICS

H19controls reactivation of the imprinted gene network during muscle regeneration

(2016) Clémence Martinet et al.   DEVELOPMENT

Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in anH19loss-of-imprinting mutant

(2016) Paul Ginart et al.   GENES & DEVELOPMENT

Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome

(2016) Grainne Iseult McNamara et al.   HUMAN MOLECULAR GENETICS

11p15 ICR1 Partial Deletions Associated withIGF2/H19DMR Hypomethylation and Silver-Russell Syndrome

(2016) Walid Abi Habib et al.   HUMAN MUTATION

NLRP2 controls age-associated maternal fertility

(2016) Anna A. Kuchmiy et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

(2016) Haiming Yuan et al.   Orphanet Journal of Rare Diseases

HumanizedH19/Igf2locus reveals diverged imprinting mechanism between mouse and human and reflects Silver–Russell syndrome phenotypes

(2016) Stella K. Hur et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

(2016) Marta Sanchez-Delgado et al.   TRENDS IN GENETICS

Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome

(2016) Matthew Van De Pette et al.   PLoS Genetics

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

(2015) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differential genomic imprinting regulates paracrine and autocrine roles of IGF2 in mouse adult neurogenesis

(2015) S. R. Ferrón et al.   Nature Communications

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Allele-specific binding of ZFP57 in the epigenetic regulation of imprinted and non-imprinted monoallelic expression

(2015) Ruslan Strogantsev et al.   GENOME BIOLOGY

Genomic imprinting in development, growth, behavior and stem cells

(2014) Robert N. Plasschaert et al.   DEVELOPMENT

Isolating the role of elevated Phlda2 in asymmetric late fetal growth restriction in mice

(2014) S. J. Tunster et al.   Disease Models & Mechanisms

Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region

(2014) F. Y. Ideraabdullah et al.   HUMAN MOLECULAR GENETICS

Enhancers compete with a long non-coding RNA for regulation of the Kcnq1 domain

(2014) Bryant M. Schultz et al.   NUCLEIC ACIDS RESEARCH

The significance of elevated placental PHLDA2 in human growth restricted pregnancies

(2014) A.B. Jensen et al.   PLACENTA

Genomic Imprinting in Mammals

(2014) D. P. Barlow et al.   Cold Spring Harbor Perspectives in Biology

Prevalence of beckwith-wiedemann syndrome in North West of Italy

(2013) Alessandro Mussa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular Findings in Beckwith-Wiedemann Syndrome

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

X-Inactivation, Imprinting, and Long Noncoding RNAs in Health and Disease

(2013) Jeannie T. Lee et al.   CELL

Myod and H19-Igf2 locus interactions are required for diaphragm formation in the mouse

(2013) M. Borensztein et al.   DEVELOPMENT

Evidence for anticipation in Beckwith–Wiedemann syndrome

(2013) Siren Berland 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

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

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

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affectingGRB10

(2012) Thomas Eggermann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

(2012) S. E. Boonen et al.   DIABETES CARE

Igf2pathway dependency of theTrp53developmental and tumour phenotypes

(2012) Victoria L. Haley et al.   EMBO Molecular Medicine

Widespread plasticity in CTCF occupancy linked to DNA methylation

(2012) H. Wang et al.   GENOME RESEARCH

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

The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r

(2012) Andrew Keniry et al.   NATURE CELL BIOLOGY

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

Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features

(2011) T Eggermann et al.   CLINICAL GENETICS

Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome

(2011) S. J. Tunster et al.   Disease Models & Mechanisms

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

Chromosome-Wide Analysis of Parental Allele-Specific Chromatin and DNA Methylation

(2011) P. Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1

(2010) F. Mohammad et al.   DEVELOPMENT

Clinical utility gene card for: Silver–Russell syndrome

(2010) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Genomic Imprinting Defect in Mice Traced to a Single Gene

(2010) A. Rentsendorj et al.   GENETICS

Postnatal Survival of Mice with Maternal Duplication of Distal Chromosome 7 Induced by a Igf2/H19 Imprinting Control Region Lacking Insulator Function

(2010) Li Han et al.   PLoS Genetics

Segmental maternal UPD(7q) in Silver-Russell syndrome

(2009) T Eggermann et al.   CLINICAL GENETICS

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

(2009) A. Gabory et al.   DEVELOPMENT

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

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

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

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

The Imprinted Phlda2 Gene Regulates Extraembryonic Energy Stores

(2009) S. J. Tunster et al.   MOLECULAR AND CELLULAR BIOLOGY

Genetic considerations in the prenatal diagnosis of overgrowth syndromes

(2009) Neeta Vora et al.   PRENATAL DIAGNOSIS

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

(2009) Esther Meyer et al.   PLoS Genetics

A KRAB Domain Zinc Finger Protein in Imprinting and Disease

(2008) Ryutaro Hirasawa et al.   DEVELOPMENTAL CELL

A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal Imprints

(2008) Xiajun Li et al.   DEVELOPMENTAL CELL

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

Kcnq1ot1 Antisense Noncoding RNA Mediates Lineage-Specific Transcriptional Silencing through Chromatin-Level Regulation

(2008) Radha Raman Pandey et al.   MOLECULAR CELL

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

The H19 locus acts in vivo as a tumor suppressor

(2008) T. Yoshimizu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA