(Q38083092)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Autism spectrum disorder in the genetics clinic: a review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

main subject

autism spectrum disorder

0 references

0 references

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

M T Carter

series ordinal

1

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24 February 2020

publication date

21 February 2013

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

399-407

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Neuroscience. The emerging biology of autism spectrum disorders

24 February 2020

cites work

1 reference

Genetic architecture in autism spectrum disorder

21 January 2018

1 reference

Genetic evaluation of autism

21 January 2018

1 reference

Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

21 January 2018

1 reference

Genetic testing in autism: how much is enough?

21 January 2018

1 reference

Autism spectrum disorders--a genetics review

21 January 2018

1 reference

Identification and Evaluation of Children With Autism Spectrum Disorders

21 January 2018

1 reference

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

21 January 2018

1 reference

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

21 January 2018

1 reference

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

Clinical genetic testing for patients with autism spectrum disorders

21 January 2018

1 reference

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

21 January 2018

1 reference

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

21 January 2018

1 reference

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

21 January 2018

1 reference

Microduplications of 16p11.2 are associated with schizophrenia

21 January 2018

1 reference

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

21 January 2018

1 reference

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

21 January 2018

1 reference

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

21 January 2018

1 reference

Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome

21 January 2018

1 reference

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.

21 January 2018

1 reference

Autistic disorder and 22q11.2 duplication.

21 January 2018

1 reference

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

21 January 2018

1 reference

Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

21 January 2018

1 reference

Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 January 2018

1 reference

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

21 January 2018

1 reference

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

21 January 2018

1 reference

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

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

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

21 January 2018

1 reference

Large recurrent microdeletions associated with schizophrenia

21 January 2018

1 reference

Autism is associated with the fragile-X syndrome.

21 January 2018

1 reference

Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

21 January 2018

1 reference

Autism profiles of males with fragile X syndrome

21 January 2018

1 reference

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

21 January 2018

1 reference

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

21 January 2018

1 reference

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

1 reference

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

21 January 2018

1 reference

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

21 January 2018

1 reference

MECP2 mutations in males.

21 January 2018

1 reference

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.

21 January 2018

1 reference

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism

21 January 2018

1 reference

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

21 January 2018

1 reference

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy

21 January 2018

1 reference

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

21 January 2018

1 reference

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

21 January 2018

1 reference

Parental perspectives on the causes of an autism spectrum disorder in their children.

21 January 2018

1 reference

Recurrence risk in Autism Spectrum Disorder: a study of parental knowledge.

21 January 2018

1 reference

Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.

21 January 2018

1 reference

Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation.

21 January 2018

1 reference

The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling.

21 January 2018

1 reference

The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation.

21 January 2018

1 reference

Genetics of austim: complex aetiology for a heterogeneous disorder

21 January 2018

1 reference

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

21 January 2018

1 reference

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

1 reference

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

1 reference

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

21 January 2018

1 reference

Neuroligins and neurexins link synaptic function to cognitive disease

21 January 2018

1 reference

Disruption of neurexin 1 associated with autism spectrum disorder

21 January 2018

1 reference

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

1 reference

Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients

21 January 2018

1 reference

Disruption of the neurexin 1 gene is associated with schizophrenia

21 January 2018

1 reference

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

21 January 2018

1 reference

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

Copy number variation in schizophrenia in the Japanese population

21 January 2018

1 reference

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

21 January 2018

1 reference

Rare deletions at the neurexin 3 locus in autism spectrum disorder

21 January 2018

1 reference

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

21 January 2018

1 reference

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

21 January 2018

1 reference

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

21 January 2018

1 reference

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

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

Contribution of SHANK3 mutations to autism spectrum disorder

21 January 2018

1 reference

Novel de novo SHANK3 mutation in autistic patients

21 January 2018

1 reference

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

21 January 2018

1 reference

SHANK1 Deletions in Males with Autism Spectrum Disorder

21 January 2018

1 reference

Predicting the diagnosis of autism spectrum disorder using gene pathway analysis

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23425232%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference