Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 8, Pages 1062-1067
Publisher
Springer Nature America, Inc
Online
2014-10-29
DOI
10.1038/ejhg.2014.234
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases
- (2014) Yiannis Ioannides et al. JOURNAL OF MEDICAL GENETICS
- 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
- Molecular and Clinical Studies in 138 Japanese Patients with Silver-Russell Syndrome
- (2013) Tomoko Fuke et al. PLoS One
- Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype
- (2012) Masayo Kagami et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Prader-Willi syndrome
- (2012) Suzanne B. Cassidy et al. GENETICS IN MEDICINE
- Silver–Russell syndrome
- (2011) Gerhard Binder et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- 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
- Uniparental disomy and human disease: An overview
- (2010) Kazuki Yamazawa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers
- (2010) Masayo Kagami et al. PLoS Genetics
- Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype
- (2009) U Zechner et al. CLINICAL GENETICS
- Imprinting disorders and assisted reproductive technology
- (2009) Somjate Manipalviratn et al. FERTILITY AND STERILITY
- Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
- (2009) S. Spengler et al. JOURNAL OF MEDICAL GENETICS
- Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients
- (2009) S. Bruce et al. JOURNAL OF MEDICAL GENETICS
- Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
- (2008) Kana Hosoki et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster
- (2008) Karin Buiting et al. HUMAN MUTATION
- 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
- Genomic imprinting at the mammalian Dlk1-Dio3 domain
- (2008) Simao Teixeira da Rocha et al. TRENDS IN GENETICS
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