- Home
- Publications
- Publication Search
- Publication Details
Title
Role of DNA methylation in imprinting disorders: an updated review
Authors
Keywords
DNA methylation, Genomic imprinting, Prader–Willi syndrome, Silver–Russell syndrome, Beckwith–Wiedemann syndrome, Type Ib pseudohypoparathyroidism
Journal
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
Volume 34, Issue 5, Pages 549-562
Publisher
Springer Nature
Online
2017-03-09
DOI
10.1007/s10815-017-0895-5
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- DNA methylation dynamics in plants and mammals: overview of regulation and dysregulation
- (2016) Amr Rafat Elhamamsy CELL BIOCHEMISTRY AND FUNCTION
- Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans
- (2016) Marta Sanchez-Delgado et al. TRENDS IN GENETICS
- Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi
- (2015) Leda Paganini et al. Epigenetics
- The landscape of genomic imprinting across diverse adult human tissues
- (2015) Yael Baran et al. GENOME RESEARCH
- Dysregulation of methylation and expression of imprinted genes in oocytes and reproductive tissues in mice of advanced maternal age
- (2015) M. Paczkowski et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- Angelman Syndrome
- (2015) Seth S. Margolis et al. Neurotherapeutics
- Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive
- (2015) Stéphanie Maupetit-Méhouas et al. NUCLEIC ACIDS RESEARCH
- DNA methylation dynamics during epigenetic reprogramming in the germline and preimplantation embryos
- (2014) D. M. Messerschmidt et al. GENES & DEVELOPMENT
- Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta
- (2014) Isabel Iglesias-Platas et al. HUMAN MOLECULAR GENETICS
- Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome
- (2014) Walid Abi Habib et al. HUMAN MOLECULAR GENETICS
- A systematic review and meta-analysis of DNA methylation levels and imprinting disorders in children conceived by IVF/ICSI compared with children conceived spontaneously
- (2014) Gabija Lazaraviciute et al. HUMAN REPRODUCTION UPDATE
- In Brief: Genomic imprinting and imprinting diseases
- (2014) Bernhard Horsthemke JOURNAL OF PATHOLOGY
- The Missing lnc(RNA) between the pancreatic β-cell and diabetes
- (2014) Vasumathi Kameswaran et al. Frontiers in Genetics
- Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis
- (2013) Line Granild Bie Mertz 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
- Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth
- (2013) KJ Jacob et al. CLINICAL GENETICS
- Cdks, cyclins and CKIs: roles beyond cell cycle regulation
- (2013) S. Lim et al. DEVELOPMENT
- Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
- (2013) Mariarosaria Calvello et al. Epigenetics
- Human and mouse ZFP57 proteins are functionally interchangeable in maintaining genomic imprinting at multiple imprinted regions in mouse ES cells
- (2013) Sachiko Takikawa et al. Epigenetics
- The prevalence of loss of imprinting of H19 and IGF2 at birth
- (2013) Rebecca C. Rancourt et al. FASEB JOURNAL
- Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
- (2013) Ilaria Baglivo et al. FEBS LETTERS
- Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance
- (2013) F. Brioude et al. Hormone Research in Paediatrics
- TheGNASComplex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene
- (2013) Serap Turan et al. Hormone Research in Paediatrics
- Allelic specificity of Ube3a Expression In The Mouse Brain During Postnatal Development
- (2013) Matthew C. Judson et al. JOURNAL OF COMPARATIVE NEUROLOGY
- Epigenetic programming and reprogramming during development
- (2013) Irene Cantone et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop
- (2013) Isabel Iglesias-Platas et al. NUCLEIC ACIDS RESEARCH
- Prognostic Value of PLAGL1-Specific CpG Site Methylation in Soft-Tissue Sarcomas
- (2013) Anne-Lise Peille et al. PLoS One
- Noncoding RNA and Polycomb recruitment
- (2013) N. Brockdorff RNA
- Beckwith–Wiedemann and Russell–Silver Syndromes
- (2013) Salah Azzi et al. Current Opinion in Endocrinology Diabetes and Obesity
- Recent Advances in GNAS Epigenetic Research of Pseudohypoparathyroidism
- (2012) B. Izzi et al. CURRENT MOLECULAR MEDICINE
- Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up
- (2012) S. E. Boonen et al. DIABETES CARE
- Spatial and temporal silencing of the human maternal UBE3A gene
- (2012) Jennifer Daily et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Prader-Willi syndrome
- (2012) Suzanne B. Cassidy et al. GENETICS IN MEDICINE
- 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
- Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers
- (2012) S. Seisenberger et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- The origin and evolution of genomic imprinting and viviparity in mammals
- (2012) M. B. Renfree et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- Silver-Russell syndrome
- (2011) E. L. Wakeling ARCHIVES OF DISEASE IN CHILDHOOD
- Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes
- (2011) J Demars et al. CLINICAL GENETICS
- An atypical case of hypomethylation at multiple imprinted loci
- (2011) Emma L Baple et al. EUROPEAN JOURNAL OF HUMAN 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
- Pseudohypoparathyroidism: Diagnosis and Treatment
- (2011) Giovanna Mantovani JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Epigenetics and assisted reproductive technology
- (2011) A. N. Iliadou et al. JOURNAL OF INTERNAL MEDICINE
- ZFP57: KAPturing DNA Methylation at Imprinted Loci
- (2011) Folami Y. Ideraabdullah et al. MOLECULAR CELL
- Genomic imprinting: the emergence of an epigenetic paradigm
- (2011) Anne C. Ferguson-Smith NATURE REVIEWS GENETICS
- Kcnq1ot1: A chromatin regulatory RNA
- (2011) Chandrasekhar Kanduri SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
- (2010) Simon C Ramsden et al. BMC Medical Genetics
- Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)
- (2010) Murat Bastepe et al. BONE
- The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
- (2010) Paul L. Greer et al. CELL
- Molecular basis of parathyroid hormone receptor signaling and trafficking: a family B GPCR paradigm
- (2010) Jean-Pierre Vilardaga et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- 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
- Epigenotype-phenotype correlations in Silver-Russell syndrome
- (2010) E. L. Wakeling et al. JOURNAL OF MEDICAL GENETICS
- Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism
- (2010) Faiza Ferdousy et al. NEUROBIOLOGY OF DISEASE
- Silver-Russell syndrome: genetic basis and molecular genetic testing
- (2010) Thomas Eggermann et al. Orphanet Journal of Rare Diseases
- 6q24 transient neonatal diabetes
- (2010) I. Karen Temple et al. REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
- Beckwith–Wiedemann syndrome
- (2009) Rosanna Weksberg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
- (2009) Carol L Clericuzio et al. GENETICS IN MEDICINE
- Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures
- (2009) Thomas Eggermann Hormone Research in Paediatrics
- 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 deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
- (2009) A. J. de Smith et al. HUMAN MOLECULAR GENETICS
- Genomic imprinting disorders in humans: a mini-review
- (2009) Merlin G. Butler JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- Imprinting Disorders and Assisted Reproductive Technology
- (2009) Carter Owen et al. SEMINARS IN REPRODUCTIVE MEDICINE
- A Mechanistic View of Genomic Imprinting
- (2008) Ky Sha Annual Review of Genomics and Human Genetics
- Epigenetics in Silver-Russell syndrome
- (2008) Sylvie Rossignol et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Non-coding RNAs in imprinted gene clusters
- (2008) Hélène Royo et al. BIOLOGY OF THE CELL
- CDK Inhibitors: Cell Cycle Regulators and Beyond
- (2008) Arnaud Besson et al. DEVELOPMENTAL CELL
- 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
- A review of known imprinting syndromes and their association with assisted reproduction technologies
- (2008) D. J. Amor et al. HUMAN REPRODUCTION
- Kcnq1ot1 Antisense Noncoding RNA Mediates Lineage-Specific Transcriptional Silencing through Chromatin-Level Regulation
- (2008) Radha Raman Pandey et al. MOLECULAR CELL
- Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
- (2008) Trilochan Sahoo et al. NATURE GENETICS
- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More