标题
Germline correction of an epimutation related to Silver-Russell syndrome
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 24, Issue 12, Pages 3314-3321
出版商
Oxford University Press (OUP)
发表日期
2015-03-04
DOI
10.1093/hmg/ddv079
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
- Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
- (2013) P Callier et al. CLINICAL GENETICS
- Are imprinting disorders more prevalent after human in vitro fertilization or intracytoplasmic sperm injection?
- (2013) Jan P.W. Vermeiden et al. FERTILITY AND STERILITY
- PGC7 suppresses TET3 for protecting DNA methylation
- (2013) C. Bian et al. NUCLEIC ACIDS RESEARCH
- DNA methyltransferase 1 (Dnmt1) mutation affects Snrpn imprinting in the mouse male germ line
- (2012) Aabida Saferali et al. GENOME
- Induction of DNA Demethylation Depending on Two Sets of Sox2 and Adjacent Oct3/4 Binding Sites (Sox-Oct Motifs) within the MouseH19/Insulin-like Growth Factor 2 (Igf2) Imprinted Control Region
- (2012) Naohiro Hori et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Primary epimutations introduced during intracytoplasmic sperm injection (ICSI) are corrected by germline-specific epigenetic reprogramming
- (2012) E. de Waal et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR
- (2011) Megan P. Hitchins et al. CANCER CELL
- Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes
- (2011) J Demars et al. CLINICAL GENETICS
- Epigenetic and Genetic Mechanisms of Abnormal 11p15 Genomic Imprinting in Silver-Russell and Beckwith-Wiedemann Syndromes
- (2011) J. Demars et al. CURRENT MEDICINAL CHEMISTRY
- 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
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Metastasis Tumor Antigen 2 (MTA2) Is Involved in Proper Imprinted Expression of H19 and Peg3 During Mouse Preimplantation Development1
- (2010) Pengpeng Ma et al. BIOLOGY OF REPRODUCTION
- A survey of sequence alignment algorithms for next-generation sequencing
- (2010) H. Li et al. BRIEFINGS IN BIOINFORMATICS
- Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes
- (2010) Salah Azzi et al. HUMAN MUTATION
- Human LSD2/KDM1b/AOF1 Regulates Gene Transcription by Modulating Intragenic H3K4me2 Methylation
- (2010) Rui Fang et al. MOLECULAR CELL
- Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men
- (2009) Céline Chalas Boissonnas et al. EUROPEAN JOURNAL OF HUMAN 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
- 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
- World Health Organization reference values for human semen characteristics*‡
- (2009) Trevor G. Cooper et al. HUMAN REPRODUCTION UPDATE
- Chromatin mechanisms in genomic imprinting
- (2009) Slim Kacem et al. MAMMALIAN GENOME
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng 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
- Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
- (2009) Esther Meyer et al. PLoS Genetics
- A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal Imprints
- (2008) Xiajun Li et al. DEVELOPMENTAL CELL
- Maternal and zygotic Dnmt1 are necessary and sufficient for the maintenance of DNA methylation imprints during preimplantation development
- (2008) R. Hirasawa et al. GENES & DEVELOPMENT
- Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR
- (2008) Kazuki Yamazawa et al. JOURNAL OF HUMAN GENETICS
- Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia
- (2008) C.J. Marques et al. MOLECULAR HUMAN REPRODUCTION
- 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
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