SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
出版年份 2013 全文链接
标题
SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
作者
关键词
-
出版物
Molecular Autism
Volume 4, Issue 1, Pages 17
出版商
Springer Nature
发表日期
2013-06-12
DOI
10.1186/2040-2392-4-17
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。- Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders
- (2012) Barbara Wiśniowiecka-Kowalnik et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
- (2012) Luigi Boccuto et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability
- (2012) Xiaohong Gong et al. PLoS One
- Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
- (2011) Fadi F. Hamdan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
- (2011) C. P. Schaaf et al. HUMAN MOLECULAR GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- (2011) Stephan J. Sanders et al. NEURON
- Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
- (2010) Anna Bremer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
- (2010) Jill A Rosenfeld et al. GENETICS IN MEDICINE
- Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation
- (2010) G. Bradley Schaefer et al. JOURNAL OF CHILD NEUROLOGY
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- Clinical Genetic Testing for Patients With Autism Spectrum Disorders
- (2010) Y. Shen et al. PEDIATRICS
- Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation
- (2009) Audrey Guilmatre et al. ARCHIVES OF GENERAL PSYCHIATRY
- Phenomic determinants of genomic variation in autism spectrum disorders
- (2009) Y Qiao et al. JOURNAL OF MEDICAL GENETICS
- Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
- (2009) Bert van der Zwaag et al. PLoS One
- Novel de novo SHANK3 mutation in autistic patients
- (2008) Julie Gauthier et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
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