Discover Community Create You

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

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

JAMA network open - 3 Jan 2020

Yehia Lamis, Seyfi Marilyn, Niestroj Lisa-Marie, Padmanabhan Roshan, Ni Ying, Frazier Thomas W, Lal Dennis, Eng Charis

Abstract excerpt

Importance: PTEN is among the most common autism spectrum disorder (ASD)-predisposition genes. Germline PTEN mutation carriers can develop malignant neoplasms and/or neurodevelopmental disorders such as ASD and developmental delay. Why a single gene contributes to disparate clinical outcomes, even in patients with identical PTEN mutations, remains unclear. Objective: To investigate the association of copy number...

Read the complete abstract on PubMed

Topics

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

Share to Infant
Share to Aged, 80 and over
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Copy Number Variations

Share to Germ-Line Mutation

Share to PTEN Phosphohydrolase

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 32003824
DOI: 10.1001/jamanetworkopen.2019.20415
PMCID: PMC7042875

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.PMID 32003824Read ↗

Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variantsSemantic proximity Read ↗

The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome.Semantic proximity Read ↗

Prevalence of four Mendelian disorders associated with autism in 2392 affected families.Semantic proximity Read ↗

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.Semantic proximity Read ↗

Population-based Characterization of PTEN Hamartoma Tumor SyndromeSemantic proximity Read ↗

The Clinical Spectrum of PTEN MutationsSemantic proximity Read ↗

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

Population-based Characterization of PTEN Hamartoma Tumor SyndromeSemantic proximity Read ↗

Exploring the neurological features of individuals with germline PTEN variants: A multicenter studySemantic proximity Read ↗

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

Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.Semantic proximity Read ↗

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

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