Severe intellectual disability and autistic features associated with microduplication 2q23.1
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Title
Severe intellectual disability and autistic features associated with microduplication 2q23.1
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 20, Issue 4, Pages 398-403
Publisher
Springer Nature
Online
2011-11-16
DOI
10.1038/ejhg.2011.199
References
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Related references
Note: Only part of the references are listed.- 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
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- Challenges in clinical interpretation of microduplications detected by array CGH analysis
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- 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
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