(Q50342128)

5 March 2018

title

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

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5 March 2018

main subject

autism spectrum disorder

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5

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5 March 2018

author name string

Elizabeth A Varga

1

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5 March 2018

Matthew Pastore

2

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5 March 2018

Thomas Prior

3

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5 March 2018

Gail E Herman

4

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5 March 2018

language of work or name

English

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publication date

1 February 2009

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5 March 2018

published in

Genetics in Medicine

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5 March 2018

volume

11

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5 March 2018

issue

2

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5 March 2018

page(s)

111-117

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5 March 2018

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31818fd762

exact match

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cites work

PTEN: a tumour suppressor that functions as a phospholipid phosphatase

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

PTEN and myotubularin: novel phosphoinositide phosphatases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

PTEN mutation in a family with Cowden syndrome and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Genetic testing in autism: how much is enough?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Centers for Disease Control and Prevention 2000 Growth Charts for the United States: Improvements to the 1977 National Center for Health Statistics Version

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Prediction of deleterious human alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Prevalence of autism in a US metropolitan area

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

PTEN: one gene, many syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818FD762

10.1097/GIM.0B013E31818FD762

21 January 2018

Identifiers

DOI

1 reference

5 March 2018

Dimensions Publication ID

1052639585

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1 reference

5 March 2018