(Q33515390)

27 July 2017

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title

Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans (English)

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single-nucleotide polymorphism

27 July 2017

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1 reference

Lauren A Weiss

1

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27 July 2017

1 November 2009

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

27 July 2017

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27 July 2017

9

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27 July 2017

8

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27 July 2017

795-803

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The genetics of autistic disorders and its clinical relevance: a review of the literature

27 July 2017

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Advances in autism genetics: on the threshold of a new neurobiology

21 January 2018

1 reference

Copy number variants, diseases and gene expression

21 January 2018

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Cytogenetic Technology — Genotype and Phenotype

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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High frequency of neurexin 1beta signal peptide structural variants in patients with autism

21 January 2018

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Neurexin 1alpha structural variants associated with autism

21 January 2018

1 reference

A genome-wide investigation of SNPs and CNVs in schizophrenia

21 January 2018

1 reference

Recurrent CNVs disrupt three candidate genes in schizophrenia patients

21 January 2018

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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

21 January 2018

1 reference

Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

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A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha

21 January 2018

1 reference

Identifying autism loci and genes by tracing recent shared ancestry

21 January 2018

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Association between microdeletion and microduplication at 16p11.2 and autism

21 January 2018

1 reference

Recurrent 16p11.2 microdeletions in autism

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Characterization of a recurrent 15q24 microdeletion syndrome.

21 January 2018

1 reference

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

1 reference

Deletion 22q13.3 syndrome

21 January 2018

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Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

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Novel de novo SHANK3 mutation in autistic patients

21 January 2018

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

1 reference

A 15q13.3 microdeletion segregating with autism

21 January 2018

1 reference

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 January 2018

1 reference

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

1 reference

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

1 reference

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

1 reference

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

21 January 2018

1 reference

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

21 January 2018

1 reference

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

21 January 2018

1 reference

A genome-wide linkage and association scan reveals novel loci for autism

21 January 2018

1 reference

Common genetic variants on 5p14.1 associate with autism spectrum disorders

21 January 2018

1 reference

Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.

21 January 2018

1 reference

Velo-cardio-facial syndrome: 30 Years of study

21 January 2018

1 reference

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

21 January 2018

1 reference

When half is not enough: gene expression and dosage in the 22q11 deletion syndrome

21 January 2018

1 reference

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

1 reference

Familial deletion within NLGN4 associated with autism and Tourette syndrome

21 January 2018

1 reference

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

21 January 2018

1 reference

Autoimmune diseases: insights from genome-wide association studies

21 January 2018

1 reference

Pathway and network-based analysis of genome-wide association studies in multiple sclerosis

21 January 2018

1 reference

Genomewide association studies: history, rationale, and prospects for psychiatric disorders

21 January 2018

1 reference

A framework for interpreting genome-wide association studies of psychiatric disorders

21 January 2018

1 reference

Distinct face-processing strategies in parents of autistic children

21 January 2018

1 reference

Intergenerational transmission of subthreshold autistic traits in the general population

21 January 2018

1 reference

Autistic social impairment in the siblings of children with pervasive developmental disorders.

21 January 2018

1 reference

Variable expression of the autism broader phenotype: findings from extended pedigrees.

21 January 2018

1 reference

Gaze-fixation, brain activation, and amygdala volume in unaffected siblings of individuals with autism.

21 January 2018

1 reference

Symptom domains in autism and related conditions: evidence for familiality

21 January 2018

1 reference

Serotonin relationships of autistic probands and their first-degree relatives.

21 January 2018

1 reference

Elevated blood serotonin in autistic probands and their first-degree relatives

21 January 2018

1 reference

Depressive and obsessive-compulsive symptoms in hyperserotonemic parents of children with autistic disorder.

21 January 2018

1 reference

Relationships of whole blood serotonin and plasma norepinephrine within families.

21 January 2018

1 reference

Psychiatric Disorders in the Parents of Autistic Individuals

21 January 2018

1 reference

Neurocognitive and electrophysiological evidence of altered face processing in parents of children with autism: implications for a model of abnormal development of social brain circuitry in autism

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1586/ERM.09.59

1 reference

27 July 2017

1 reference

PubMed ID

19895225