Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
出版年份 2014 全文链接
标题
Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
作者
关键词
-
出版物
HUMAN MUTATION
Volume 35, Issue 10, Pages 1211-1220
出版商
Wiley
发表日期
2014-07-19
DOI
10.1002/humu.22623
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。- Human Imprinting Anomalies in Fetal and Childhood Growth Disorders: Clinical Implications and Molecular Mechanisms
- (2014) Salah Azzi et al. CURRENT PHARMACEUTICAL DESIGN
- Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
- (2014) F. Court et al. GENOME RESEARCH
- Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes
- (2014) Louise E Docherty et al. JOURNAL OF MEDICAL GENETICS
- Predicting DNA methylation level across human tissues
- (2014) Baoshan Ma et al. NUCLEIC ACIDS RESEARCH
- Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
- (2013) Rebecca L. Poole et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy
- (2013) Boris Keren et al. European Journal of Medical Genetics
- Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
- (2013) Stéphanie Maupetit-Méhouas et al. HUMAN MUTATION
- Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome
- (2013) Tomoko Fuke et al. PLoS One
- H19 lncRNA controls gene expression of the Imprinted Gene Network by recruiting MBD1
- (2013) P. Monnier et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Beckwith–Wiedemann and Russell–Silver Syndromes
- (2013) Salah Azzi et al. Current Opinion in Endocrinology Diabetes and Obesity
- Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology
- (2013) Louise Tee et al. Clinical Epigenetics
- Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome
- (2012) K Kannenberg et al. CLINICAL GENETICS
- Multiple Segmental Uniparental Disomy Associated with Abnormal DNA Methylation of Imprinted Loci in Silver-Russell Syndrome
- (2012) Renuka P. Dias et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at theGNASLocus
- (2012) Gustavo Perez-Nanclares et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
- (2012) Agostina De Crescenzo et al. JOURNAL OF MEDICAL GENETICS
- The role of imprinted genes in humans
- (2012) Miho Ishida et al. MOLECULAR ASPECTS OF MEDICINE
- IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome
- (2012) Kai Kannenberg et al. Clinical Epigenetics
- Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome
- (2011) Adriano Bonaldi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Uniparental disomies 7 and 14
- (2011) Katrin Hoffmann et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Russell-Silver syndrome
- (2010) Thomas Eggermann AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
- (2010) M Begemann et al. CLINICAL GENETICS
- Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases
- (2010) Salah Azzi et al. Epigenetics
- 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
- 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
- H19 acts as a trans regulator of the imprinted gene network controlling growth in mice
- (2009) A. Gabory et al. DEVELOPMENT
- Transcription is required for establishment of germline methylation marks at imprinted genes
- (2009) M. Chotalia et al. GENES & DEVELOPMENT
- 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
- Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
- (2009) Esther Meyer et al. PLoS Genetics
- Epigenetics in Silver-Russell syndrome
- (2008) Sylvie Rossignol et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation
- (2008) M. Cecilia Cirio et al. DEVELOPMENTAL BIOLOGY
- 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 and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
- (2008) D. Lim et al. 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
- Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
- (2008) Masayo Kagami et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk 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