Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
出版年份 2019 全文链接
标题
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2019-01-10
DOI
10.1038/s41436-018-0416-7
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。- 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
- Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
- (2018) Angela Sparago et al. Clinical Epigenetics
- U1 snRNP telescripting regulates a size–function-stratified human genome
- (2017) Jung-Min Oh et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Birth and Death of Histone mRNAs
- (2017) William F. Marzluff et al. TRENDS IN GENETICS
- U1 snRNP telescripting regulates a size–function-stratified human genome
- (2017) Jung-Min Oh et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome
- (2016) Jasmin Beygo et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes
- (2016) Susanne Eriksen Boonen et al. Clinical Epigenetics
- (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine
- (2015) A. Mussa et al. CLINICAL GENETICS
- The landscape of genomic imprinting across diverse adult human tissues
- (2015) Yael Baran et al. GENOME RESEARCH
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- 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
- Coupling mRNA processing with transcription in time and space
- (2014) David L. Bentley NATURE REVIEWS GENETICS
- Nonsense-mediated mRNA decay — Mechanisms of substrate mRNA recognition and degradation in mammalian cells
- (2013) Christoph Schweingruber et al. Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
- Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
- (2013) Fiorella Gurrieri et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome
- (2013) Berivan Baskin et al. HUMAN GENETICS
- U1 snRNP Determines mRNA Length and Regulates Isoform Expression
- (2012) Michael G. Berg et al. CELL
- Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving theKCNQ1gene
- (2012) S Kaltenbach et al. CLINICAL 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
- 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
- Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals
- (2010) Ilan Goldenberg et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation
- (2010) Daisuke Kaida et al. NATURE
- Cotranscriptional RNA checkpoints
- (2010) Sérgio F de Almeida et al. Epigenomics
- Genetic Testing for Long-QT Syndrome
- (2009) Suraj Kapa et al. CIRCULATION
- Prevalence of the Congenital Long-QT Syndrome
- (2009) Peter J. Schwartz et al. CIRCULATION
- Transcription is required for establishment of germline methylation marks at imprinted genes
- (2009) M. Chotalia et al. GENES & DEVELOPMENT
- Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
- (2009) Jamie D. Kapplinger et al. HEART RHYTHM
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started