Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders
出版年份 2013 全文链接
标题
Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders
作者
关键词
-
出版物
JOURNAL OF HUMAN GENETICS
Volume 58, Issue 7, Pages 402-409
出版商
Springer Nature
发表日期
2013-05-30
DOI
10.1038/jhg.2013.51
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
- (2013) Hitomi Yatsuki et al. Genes & Genomics
- Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome
- (2012) Ken Higashimoto et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues
- (2012) Michal Inbar-Feigenberg et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies
- (2012) Hitoshi Hiura et al. HUMAN REPRODUCTION
- Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell
- (2012) Shin-ichi Tomizawa et al. JOURNAL OF HUMAN GENETICS
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
- (2012) Valerie A Arboleda et al. NATURE GENETICS
- Trim28 Is Required for Epigenetic Stability During Mouse Oocyte to Embryo Transition
- (2012) D. M. Messerschmidt et al. SCIENCE
- 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
- Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes
- (2011) J Demars et al. CLINICAL GENETICS
- Genomic imprinting: recognition and marking of imprinted loci
- (2011) Lara K Abramowitz et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- 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
- Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
- (2011) Valeria Romanelli et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression
- (2011) Adam C. Smith et al. GENOMICS
- 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
- Zinc Finger Protein ZFP57 Requires Its Co-factor to Recruit DNA Methyltransferases and Maintains DNA Methylation Imprint in Embryonic Stem Cells via Its Transcriptional Repression Domain
- (2011) Xiaopan Zuo et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- p57Kip2 and Cancer: Time for a Critical Appraisal
- (2011) A. Borriello et al. MOLECULAR CANCER RESEARCH
- 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
- 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
- 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
- Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region
- (2010) Thomas Eggermann et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Beckwith-Wiedemann syndrome
- (2010) Sanaa Choufani et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases
- (2010) Margaret Elliott et al. CLINICAL GENETICS
- Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1
- (2010) F. Mohammad et al. DEVELOPMENT
- 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
- Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes
- (2010) Kazuki Yamazawa et al. JOURNAL OF HUMAN GENETICS
- Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism
- (2010) V. Romanelli et al. JOURNAL OF MEDICAL GENETICS
- Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype
- (2010) K. Yamazawa et al. JOURNAL OF MEDICAL GENETICS
- Silver-Russell syndrome: genetic basis and molecular genetic testing
- (2010) Thomas Eggermann et al. Orphanet Journal of Rare Diseases
- Beckwith–Wiedemann syndrome
- (2009) Rosanna Weksberg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Imprinting disorders and assisted reproductive technology
- (2009) Somjate Manipalviratn et al. FERTILITY AND STERILITY
- 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
- 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
- The Cdk inhibitor p57Kip2 controls LIM-kinase 1 activity and regulates actin cytoskeleton dynamics
- (2009) P Vlachos et al. ONCOGENE
- 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
- 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
- Loss of imprinting of IGF2 correlates with hypermethylation of the H19 differentially methylated region in hepatoblastoma
- (2008) S Honda et al. BRITISH JOURNAL OF CANCER
- Polycomb Group Proteins Ezh2 and Rnf2 Direct Genomic Contraction and Imprinted Repression in Early Mouse Embryos
- (2008) Rémi Terranova 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
- Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
- (2008) Susanne E Boonen 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
- Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
- (2008) D. Lim 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
- 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
- Epigenetic events in mammalian germ-cell development: reprogramming and beyond
- (2008) Hiroyuki Sasaki et al. NATURE REVIEWS GENETICS
- Androgenetic/Biparental Mosaicism in an Infant with Hepatic Mesenchymal Hamartoma and Placental Mesenchymal Dysplasia
- (2008) Robyn C. Reed et al. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started