标题
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 25, Issue 12, Pages 1335-1344
出版商
Springer Nature
发表日期
2017-11-07
DOI
10.1038/s41431-017-0023-0
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。- Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
- (2017) Ilaria Parenti et al. HUMAN GENETICS
- Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation inKMT2A
- (2016) Emilia Stellacci et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2
- (2016) Nina Bögershausen et al. HUMAN MUTATION
- Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome
- (2016) Andrew W. Lindsley et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations
- (2015) N. Miyake et al. CLINICAL GENETICS
- The Mendelian disorders of the epigenetic machinery
- (2015) Hans Tomas Bjornsson GENOME RESEARCH
- New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
- (2015) Bo Yuan et al. JOURNAL OF CLINICAL INVESTIGATION
- Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis
- (2015) Jiyuan Zhang et al. NATURE MEDICINE
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion inKMT2A(MLL)
- (2014) Bryce A. Mendelsohn et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Kabuki syndrome: clinical and molecular diagnosis in the first year of life
- (2014) Maria Lisa Dentici et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays
- (2014) Martin J. Aryee et al. BIOINFORMATICS
- Accounting for Population Stratification in DNA Methylation Studies
- (2014) Richard T. Barfield et al. GENETIC EPIDEMIOLOGY
- Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome
- (2014) H. T. Bjornsson et al. Science Translational Medicine
- Quantitative Dissection and Stoichiometry Determination of the Human SET1/MLL Histone Methyltransferase Complexes
- (2013) R. van Nuland et al. MOLECULAR AND CELLULAR BIOLOGY
- De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
- (2012) Wendy D. Jones et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DNA methylation arrays as surrogate measures of cell mixture distribution
- (2012) Eugene Houseman et al. BMC BIOINFORMATICS
- KDM6A Point Mutations Cause Kabuki Syndrome
- (2012) Noriko Miyake et al. HUMAN MUTATION
- Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies
- (2012) Andrew E Jaffe et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Global identification of MLL2-targeted loci reveals MLL2's role in diverse signaling pathways
- (2012) C. Guo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- The N-terminus of histone H3 is required for de novo DNA methylation in chromatin
- (2009) Jia-Lei Hu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The lysine demethylase LSD1 (KDM1) is required for maintenance of global DNA methylation
- (2008) Jing Wang et al. NATURE GENETICS
Publish 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 MoreAdd 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 Now