Severe intellectual disability and autistic features associated with microduplication 2q23.1
出版年份 2011 全文链接
标题
Severe intellectual disability and autistic features associated with microduplication 2q23.1
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 20, Issue 4, Pages 398-403
出版商
Springer Nature
发表日期
2011-11-16
DOI
10.1038/ejhg.2011.199
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。- 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
- (2011) Brian H.Y. Chung et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Challenges in clinical interpretation of microduplications detected by array CGH analysis
- (2010) Pawel Stankiewicz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- A genome-wide association study of alcohol dependence
- (2010) L. J. Bierut et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
- (2009) Bregje WM van Bon et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures
- (2009) Stephen R Williams et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
- (2009) Luis M Franco et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
- (2009) T. H. Shaikh et al. GENOME RESEARCH
- Kinesin Family Member 6 Variant Trp719Arg Does Not Associate With Angiographically Defined Coronary Artery Disease in the Ottawa Heart Genomics Study
- (2009) Alexandre F.R. Stewart et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
- (2008) Bernard Grisart et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
- (2008) S Jaillard et al. JOURNAL OF MEDICAL GENETICS
- Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
- (2008) F D Hannes et al. JOURNAL OF MEDICAL GENETICS
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
- (2008) Nicola Brunetti-Pierri et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish 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