Autism spectrum disorder in the genetics clinic: a review. (Q38083092)

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24 February 2020

title

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

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24 February 2020

main subject

autism spectrum disorder

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2

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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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24 February 2020

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

24 February 2020

volume

83

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

24 February 2020

issue

5

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24 February 2020

page(s)

399-407

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Neuroscience. The emerging biology of autism spectrum disorders

24 February 2020

cites work

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

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Autism spectrum disorders—A genetics review

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Identification and Evaluation of Children With Autism Spectrum Disorders

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

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Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

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Clinical genetic testing for patients with autism spectrum disorders

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

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Structural variation of chromosomes in autism spectrum disorder

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

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Strong association of de novo copy number mutations with autism

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

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

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

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Microduplications of 16p11.2 are associated with schizophrenia

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

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

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

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

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

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Autistic disorder and 22q11.2 duplication

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

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

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

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

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

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

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

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

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

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Large recurrent microdeletions associated with schizophrenia

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Autism is associated with the fragile-X syndrome

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Autism profiles of males with fragile X syndrome

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Rett syndrome: Revised diagnostic criteria and nomenclature

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

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

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

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MECP2 mutations in males.

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

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

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

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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

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

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

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

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

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

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

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

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

21 January 2018

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

21 January 2018

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De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

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

21 January 2018

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

21 January 2018

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Neuroligins and neurexins link synaptic function to cognitive disease

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21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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Disruption of the neurexin 1 gene is associated with schizophrenia

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

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

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Copy number variation in schizophrenia in the Japanese population

21 January 2018

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

21 January 2018

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Rare deletions at the neurexin 3 locus in autism spectrum disorder

21 January 2018

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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

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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

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

21 January 2018

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SHANK1 Deletions in Males with Autism Spectrum Disorder

21 January 2018

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Predicting the diagnosis of autism spectrum disorder using gene pathway analysis

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21 January 2018

Identifiers

DOI

10.1111/CGE.12101

1 reference

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

24 February 2020

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