标题
Genotype-phenotype correlations in individuals with pathogenic RERE
variants
作者
关键词
-
出版物
HUMAN MUTATION
Volume 39, Issue 5, Pages 666-675
出版商
Wiley
发表日期
2018-01-13
DOI
10.1002/humu.23400
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。- Atrophin protein RERE positively regulates Notch targets in the developing vertebrate spinal cord
- (2017) Hui Wang et al. JOURNAL OF NEUROCHEMISTRY
- The WHHERE coactivator complex is required for retinoic acid-dependent regulation of embryonic symmetry
- (2017) Gonçalo C. Vilhais-Neto et al. Nature Communications
- De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
- (2016) Brieana Fregeau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Atypical phenotypes associated with pathogenicCHD7variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
- (2015) Caitlin L. Hale et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Retinoic acid controls body axis extension by directly repressing Fgf8 transcription
- (2014) S. Kumar et al. DEVELOPMENT
- Mouse Model Reveals the Role of RERE in Cerebellar Foliation and the Migration and Maturation of Purkinje Cells
- (2014) Bum Jun Kim et al. PLoS One
- CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus
- (2014) Kieran M. Jones et al. STEM CELLS
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- (2013) Joanna Wiszniewska et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome
- (2013) Joseph A. Micucci et al. HUMAN MOLECULAR GENETICS
- An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions
- (2013) Bum Jun Kim et al. PLoS One
- Loss of PPP2R2A Inhibits Homologous Recombination DNA Repair and Predicts Tumor Sensitivity to PARP Inhibition
- (2012) P. Kalev et al. CANCER RESEARCH
- Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice
- (2012) Elizabeth A. Hurd et al. MECHANISMS OF DEVELOPMENT
- Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders
- (2012) K. Bouazoune et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Rere controls retinoic acid signalling and somite bilateral symmetry
- (2010) Gonçalo C. Vilhais-Neto et al. NATURE
- Atrophin recruits HDAC1/2 and G9a to modify histone H3K9 and to determine cell fates
- (2008) Lei Wang et al. EMBO REPORTS
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