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。SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
C. M. Durand et al.
MOLECULAR PSYCHIATRY (2012)
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Joao Peca et al.
NATURE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH
S. U. Dhar et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
Ye Wu et al.
BMC MEDICAL GENETICS (2010)
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
Julie Gauthier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
Ozlem Bozdagi et al.
MOLECULAR AUTISM (2010)
Novel De Novo SHANK3 Mutation in Autistic Patients
Julie Gauthier et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)
A synaptic trek to autism
Thomas Bourgeron
CURRENT OPINION IN NEUROBIOLOGY (2009)
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
Gurdeep S. Sagoo et al.
GENETICS IN MEDICINE (2009)
Genomic Microarrays in Mental Retardation: A Practical Workflow for Diagnostic Applications
David A. Koolen et al.
HUMAN MUTATION (2009)
Integrated detection and population-genetic analysis of SNPs and copy number variation
Steven A. McCarroll et al.
NATURE GENETICS (2008)
A Calcium-Dependent Switch in a CREST-BRG1 Complex Regulates Activity-Dependent Gene Expression
Zilong Qiu et al.
NEURON (2008)
Deletion 22q13.3 syndrome
Mary C. Phelan
ORPHANET JOURNAL OF RARE DISEASES (2008)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
Kristina Cusmano-Ozog et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand et al.
NATURE GENETICS (2007)
Genetics and pathophysiology of mental retardation
Jamel Chelly et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
Idiopathic learning disability and genome imbalance
S. J. L. Knight et al.
CYTOGENETIC AND GENOME RESEARCH (2006)
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons
G Roussignol et al.
JOURNAL OF NEUROSCIENCE (2005)
FGF2-induced chromatin remodeling regulates CNTF-mediated gene expression and astrocyte differentiation
MR Song et al.
NATURE NEUROSCIENCE (2004)
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
HL Wilson et al.
JOURNAL OF MEDICAL GENETICS (2003)
FISH-mapping of a 100-kb terminal 22q13 deletion
BM Anderlid et al.
HUMAN GENETICS (2002)
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
MC Bonaglia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
分享论文
