ArticleAmerican journal of medical genetics. Part A2020
Brain morphological analysis in PTEN hamartoma tumor syndrome.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.Human molecular genetics · 2022Trial
- Neurodevelopmental and Neurologic Manifestations ofNeurology. Genetics · 2025Review
- PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.Nature neuroscience · 2025Article
- Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.Annals of clinical and translational neurology · 2024Article
- Using cortical organoids to understand the pathogenesis of malformations of cortical development.Frontiers in neuroscience · 2024Review
- MYCN in human development and diseases.Frontiers in oncology · 2024Review
- Brain morphometric changes in children born as small for gestational age without catch up growth.Frontiers in neuroscience · 2024Article
- Brain structure alterations in girls with central precocious puberty.Frontiers in neuroscience · 2023Article
- Neuroimaging features of genetic syndromes associated with CNS overgrowth.Pediatric radiology · 2022Review
- Small Nucleus Accumbens and Large Cerebral Ventricles in Infants and Toddlers Prior to Receiving Diagnoses of Autism Spectrum Disorder.Cerebral cortex (New York, N.Y. : 1991) · 2022Article
- Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism withGenes · 2021Article
- Quantitative analyses of high-angular resolution diffusion imaging (HARDI)-derived long association fibers in children with sensorineural hearing loss.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2020Article
- Polymicrogyria is Associated With Pathogenic Variants in PTEN.Annals of neurology · 2020Article
- Article
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Authors and funding
4 authors at 1 institution in 3 countries.
Funding
Abstract
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations in PTEN. PHTS is of high interest, because of its high rate of neurological comorbidities including macrocephaly, autism spectrum disorder, and intellectual dysfunction. Since detailed brain morphology and connectivity of PHTS remain unclear, we quantitatively evaluated brain magnetic resonance imaging (MRI) in PHTS. Sixteen structural T1-weighted and 9 diffusion-weighted MR images from 12 PHTS patients and neurotypical controls were used for structural and high-angular resolution diffusion MRI (HARDI) tractography analyses. Mega-corpus callosum was observed in 75%, polymicrogyria in 33%, periventricular white matter lesions in 83%, and heterotopia in 17% of the PHTS participants. While gyrification index and hemispheric cortical thickness showed no significant differences between the two groups, significantly increased global and regional brain volumes, and regionally thicker cortices in PHTS participants were observed. HARDI tractography showed increased volume and length of callosal pathways, increased volume of the arcuate fasciculi (AF), and increased length of the bilateral inferior longitudinal fasciculi (ILF), bilateral inferior fronto-occipital fasciculi (IFOF), and bilateral uncinate fasciculus. A decrease in fractional anisotropy and an increased in apparent diffusion coefficient values of the AF, left ILF, and left IFOF in PHTS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.