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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。CNTNAP2 variants affect early language development in the general population (vol 10, pg 451, 2011)
A. J. O. Whitehouse
GENES BRAIN AND BEHAVIOR (2012)
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
Giulia Falivelli et al.
HUMAN MOLECULAR GENETICS (2012)
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
Richard Anney et al.
HUMAN MOLECULAR GENETICS (2012)
Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum
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HUMAN MUTATION (2012)
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome
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HUMAN MUTATION (2012)
Pathogen Free Conditions Slow the Onset of Neurodegeneration in a Mouse Model of Nerve Growth Factor Deprivation
Simona Capsoni et al.
JOURNAL OF ALZHEIMERS DISEASE (2012)
CNTNAP2 and Language Processing in Healthy Individuals as Measured with ERPs
Miriam Kos et al.
PLOS ONE (2012)
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
Garret R. Anderson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
A High-Coverage Genome Sequence from an Archaic Denisovan Individual
Matthias Meyer et al.
SCIENCE (2012)
Clinically Relevant Single Gene or Intragenic Deletions Encompassing Critical Neurodevelopmental Genes in Patients With Developmental Delay, Mental Retardation, and/or Autism Spectrum Disorders
Fady M. Mikhail et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects
D. F. Newbury et al.
BEHAVIOR GENETICS (2011)
Characterization of the axon initial segment (AIS) of motor neurons and identification of a para-AIS and a juxtapara-AIS, organized by protein 4.1B
Amandine Duflocq et al.
BMC BIOLOGY (2011)
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor et al.
BMC MEDICAL GENETICS (2011)
Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits
Olga Penagarikano et al.
CELL (2011)
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
Alex S. Nord et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample
Beate Peter et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J. O'Roak et al.
NATURE GENETICS (2011)
Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene, CNTNAP2
Emily L. Dennis et al.
BRAIN CONNECTIVITY (2011)
De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Deletion of 7q34-q36.2 in Two Siblings With Mental Retardation, Language Delay, Primary Amenorrhea, and Dysmorphic Features
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Common Variants in Major Histocompatibility Complex Region and TCF4 Gene Are Significantly Associated with Schizophrenia in Han Chinese
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BIOLOGICAL PSYCHIATRY (2010)
Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
Denise Horn et al.
HUMAN MUTATION (2010)
Language-related Cntnap2 Gene is Differentially Expressed in Sexually Dimorphic Song Nuclei Essential for Vocal Learning in Songbirds
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JOURNAL OF COMPARATIVE NEUROLOGY (2010)
Drosophila Neurexin IV Interacts with Roundabout and Is Required for Repulsive Midline Axon Guidance
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JOURNAL OF NEUROSCIENCE (2010)
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
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MOLECULAR PSYCHIATRY (2010)
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
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NEUROGENETICS (2010)
Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
Geoffrey C. Y. Tan et al.
NEUROIMAGE (2010)
Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2
Ashley A. Scott-Van Zeeland et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford et al.
PLOS GENETICS (2010)
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
Christiane Zweier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl
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PEDIATRIC NEUROLOGY (2009)
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
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AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
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AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders
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AMERICAN JOURNAL OF HUMAN GENETICS (2008)
A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)
A Functional Genetic Link between Distinct Developmental Language Disorders
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NEW ENGLAND JOURNAL OF MEDICINE (2008)
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
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MOLECULAR PSYCHIATRY (2008)
Genome-wide analyses of human perisylvian cerebral cortical patterning
B. S. Abrahams et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
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EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
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NEW ENGLAND JOURNAL OF MEDICINE (2006)
Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive function
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TRENDS IN NEUROSCIENCES (2006)
Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy
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NATURE NEUROSCIENCE (2005)
FoxP2 expression in avian vocal learners and non-learners
S Haesler et al.
JOURNAL OF NEUROSCIENCE (2004)
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction
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JOURNAL OF NEUROSCIENCE (2004)
Regulation of neocortical interneuron development and the implications for neurodevelopmental disorders
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TRENDS IN NEUROSCIENCES (2004)
Revised nomenclature for avian telencephalon and some related brainstem nuclei
A Reiner et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2004)
Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
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JOURNAL OF CELL BIOLOGY (2003)
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
AJMH Verkerk et al.
GENOMICS (2003)
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain
RJ Ferland et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2003)
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder
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BRAIN (2003)
The neuronal adhesion protein TAG-1 is expressed by Schwann cells and oligodendrocytes and is localized to the juxtaparanodal region of myelinated fibers
M Traka et al.
JOURNAL OF NEUROSCIENCE (2002)
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia
KE Watkins et al.
BRAIN (2002)
The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35
K Nakabayashi et al.
GENOMICS (2001)
Intrinsic excitatory connections in the prefrontal cortex and the pathophysiology of schizophrenia
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BRAIN RESEARCH BULLETIN (2000)
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