An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
出版年份 2011 全文链接
标题
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 13, Issue 9, Pages 777-784
出版商
Springer Nature
发表日期
2011-10-05
DOI
10.1097/gim.0b013e31822c79f9
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。- Trends in the Prevalence of Developmental Disabilities in US Children, 1997-2008
- (2011) C. A. Boyle et al. PEDIATRICS
- Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
- (2010) Daniel Moreno-De-Luca et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
- (2010) Melanie Manning et al. GENETICS IN MEDICINE
- Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
- (2010) D. L. Bruno et al. JOURNAL OF MEDICAL GENETICS
- Public data archives for genomic structural variation
- (2010) Deanna M Church et al. NATURE GENETICS
- 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families
- (2010) John CK Barber et al. Molecular Cytogenetics
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
- (2009) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
- (2009) Anna Brunet et al. BMC Medical Genetics
- Duplication hotspots, rare genomic disorders, and common disease
- (2009) Heather C Mefford et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
- (2009) Marjolein H Willemsen 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
- Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
- (2009) Sandesh Chakravarthy Sreenath Nagamani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
- (2009) Karen D Tsuchiya et al. GENETICS IN MEDICINE
- 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
- 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
- (2009) B Grisart et al. JOURNAL OF MEDICAL GENETICS
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
- (2008) Beverly S. Emanuel Developmental Disabilities Research Reviews
- Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
- (2008) Erin L Baldwin et al. GENETICS IN MEDICINE
- Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
- (2008) Zhishuo Ou et al. GENETICS IN MEDICINE
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
- (2008) D T Miller 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
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- (2008) Andrew J Sharp et al. NATURE 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
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
- (2008) Heather C. Mefford et al. NEW ENGLAND JOURNAL OF MEDICINE
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
- (2008) Blake C Ballif et al. Molecular Cytogenetics
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