Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
出版年份 2018 全文链接
标题
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-09-14
DOI
10.1038/s41431-018-0269-1
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。- Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
- (2018) Matthias Begemann et al. JOURNAL OF MEDICAL GENETICS
- NLRP genes and their role in preeclampsia and multi-locus imprinting disorders
- (2018) Lukas Soellner et al. JOURNAL OF PERINATAL MEDICINE
- Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
- (2018) Angela Sparago et al. Clinical Epigenetics
- Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring
- (2017) Lukas Soellner et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
- (2016) Katja Eggermann et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 11p15 ICR1 Partial Deletions Associated withIGF2/H19DMR Hypomethylation and Silver-Russell Syndrome
- (2016) Walid Abi Habib et al. HUMAN MUTATION
- Diagnosis and management of Silver–Russell syndrome: first international consensus statement
- (2016) Emma L. Wakeling et al. Nature Reviews Endocrinology
- 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
- Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction
- (2015) Zhiyuan Chen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- (2015) Louise E. Docherty et al. Nature Communications
- Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
- (2015) Marta Sanchez-Delgado et al. PLoS 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
- Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
- (2014) Salah Azzi et al. HUMAN MUTATION
- Exhaustive methylation analysis revealed uneven profiles of methylation atIGF2/ICR1/H1911p15 loci in Russell Silver syndrome
- (2014) Salah Azzi et al. JOURNAL OF MEDICAL GENETICS
- Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
- (2014) Thomas Eggermann et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Evidence for anticipation in Beckwith–Wiedemann syndrome
- (2013) Siren Berland et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Beckwith–Wiedemann and Russell–Silver Syndromes
- (2013) Salah Azzi et al. Current Opinion in Endocrinology Diabetes and Obesity
- Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci
- (2012) Matthias Begemann et al. Epigenetics
- Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
- (2012) Matthias Begemann et al. JOURNAL OF MEDICAL GENETICS
- 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
- 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
- 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
- Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations
- (2009) Sabrina Spengler et al. European Journal of Medical Genetics
- 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
- 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 Nod-Like Receptor (NLR) Family: A Tale of Similarities and Differences
- (2008) Martina Proell et al. PLoS One
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish 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