(Q46217072)

20 December 2017

title

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions (English)

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20 December 2017

main subject

autism spectrum disorder

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autism

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author name string

G Bradley Schaefer

series ordinal

1

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20 December 2017

Nancy J Mendelsohn

series ordinal

2

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20 December 2017

Professional Practice and Guidelines Committee

series ordinal

3

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20 December 2017

language of work or name

English

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publication date

21 March 2013

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20 December 2017

published in

Genetics in Medicine

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20 December 2017

volume

15

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20 December 2017

issue

5

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20 December 2017

page(s)

399-407

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20 December 2017

https://scigraph.springernature.com/pub.10.1038/gim.2013.32

exact match

0 references

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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

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MECP2 abnormality phenotypes: clinicopathologic area with broad variability

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Autistic disorder in Sotos syndrome: a case report.

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The yield of laboratory investigations in children with infantile autism

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Etiologic yield of autistic spectrum disorders: a prospective study

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Diagnostic yield of genetic testing in children diagnosed with autism spectrum disorders at a regional referral center

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Fragile X and autism.

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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

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Etiologic yield of autistic spectrum disorders: a prospective study.

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First in vivo evidence of an NMDA receptor deficit in medication-free schizophrenic patients

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Chromosomal microarray testing influences medical management

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Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

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Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.

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7 January 2021

Clinical genetic testing for patients with autism spectrum disorders

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7 January 2021

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

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7 January 2021

Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?

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Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

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

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Recurrent 16p11.2 microdeletions in autism

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Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

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7 January 2021

Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP.

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7 January 2021

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

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

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7 January 2021

Study of MECP2 gene in Rett syndrome variants and autistic girls.

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7 January 2021

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

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7 January 2021

Genetic testing in autism: how much is enough?

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7 January 2021

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

PTEN mutation in a family with Cowden syndrome and autism

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7 January 2021

Autistic spectrum disorder in a 9-year-old girl with macrocephaly.

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7 January 2021

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

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7 January 2021

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

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7 January 2021

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

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7 January 2021

Neurometabolic disorders and dysfunction in autism spectrum disorders

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https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Autism and phenylketonuria

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https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Autism and mitochondrial disease

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https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Mitochondrial disease in autism spectrum disorder patients: a cohort analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Early exposure to anesthesia and learning disabilities in a population-based birth cohort

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Attention-deficit/hyperactivity disorder after early exposure to procedures requiring general anesthesia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

MRI findings in 77 children with non-syndromic autistic disorder

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Genomics, intellectual disability, and autism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.32

7 January 2021

Identifiers

DOI

10.1038/GIM.2013.32

1 reference

20 December 2017

Dimensions Publication ID

1009144056

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Microsoft Academic ID

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1 reference

20 December 2017