Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2009

Varga Elizabeth A, Pastore Matthew, Prior Thomas, Herman Gail E, McBride Kim L

Abstract excerpt

PURPOSE: To define the prevalence of PTEN mutations in a clinical cohort of pediatric subjects with autism spectrum disorders (ASDs), developmental delay/mental retardation (DD/MR), and/or macrocephaly and to assess genotype-phenotype correlations. METHODS: Medical records of patients who had clinical PTEN gene sequencing ordered through our institution between January 1, 2005 and December 31, 2007 were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Developmental Disabilities

Share to Infant

Share to Intellectual Disability

Share to Prevalence

Share to PTEN Phosphohydrolase

Source

Identifiers

PMID: 19265751
DOI: 10.1097/GIM.0b013e31818fd762

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.PMID 19265751Read ↗

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

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

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Semantic proximity Read ↗

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.Semantic proximity Read ↗

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.Semantic proximity Read ↗

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.Semantic proximity Read ↗

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.Semantic proximity Read ↗

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.Semantic proximity Read ↗

Increasing knowledge of <i>PTEN</i> germline mutations: Two additional patients with autism and macrocephalySemantic proximity Read ↗

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autismSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.