Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV
出版年份 2011 全文链接
标题
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV
作者
关键词
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出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155, Issue 7, Pages 1568-1573
出版商
Wiley
发表日期
2011-05-28
DOI
10.1002/ajmg.a.34028
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
- (2010) Konstantinos Nikopoulos et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
- (2010) James A. Poulter 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
- A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features
- (2010) Johannes G. Dauwerse et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
- (2010) Simone Berkel et al. NATURE GENETICS
- Clinical Genetic Testing for Patients With Autism Spectrum Disorders
- (2010) Y. Shen et al. PEDIATRICS
- The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease
- (2010) Xin Ye et al. TRENDS IN MOLECULAR MEDICINE
- Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility
- (2009) Holly N. Cukier et al. Autism Research
- TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling
- (2009) Harald J. Junge et al. CELL
- Persistent hyperplastic primary vitreous: congenital malformation of the eye
- (2009) Barkur S Shastry CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
- Comment on “Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients”
- (2009) Alal Eran et al. JOURNAL OF CLINICAL INVESTIGATION
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- (2009) Joseph T. Glessner et al. NATURE
- Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
- (2008) Maricela Alarcón et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism
- (2008) Dan E. Arking et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
- (2008) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Proximal interstitial 1p36 deletion syndrome: The most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)
- (2008) Keiko Shimojima et al. BRAIN & DEVELOPMENT
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