Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

scientific article published on 08 October 2019

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/S41398-019-0588-1
P932PMC publication ID6783427
P698PubMed publication ID31594918

P50authorMustafa SahinQ42875603
Thomas W FrazierQ90432014
Charis EngQ37385393
P2093author name stringSiddharth Srivastava
Julian A Martinez-Agosto
Antonio Hardan
Patricia Klaas
Robyn M Busch
Olivia Hogue
Developmental Synaptopathies Consortium
P2860cites workDSM-5Q3064664
Clinical Implications for Germline PTEN Spectrum DisordersQ39286360
Randomised trial of a parent-mediated intervention for infants at high risk for autism: longitudinal outcomes to age 3 yearsQ47141938
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephalyQ50342128
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.Q51932045
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.Q54904169
Genetics of autism spectrum disordersQ84797519
65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicineQ88787245
Advances in autism genetics: on the threshold of a new neurobiologyQ22251023
Autism: many genes, common pathways?Q22252315
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseQ24322705
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probandsQ24606333
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsQ24673663
Genes, circuits, and precision therapies for autism and related neurodevelopmental disordersQ26782594
Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum DisorderQ26822064
Advancing the understanding of autism disease mechanisms through geneticsQ28069757
Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTENQ28513537
Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis ComplexQ30989503
The cerebellum and cognition: evidence from functional imaging studiesQ33836937
PTEN Tumor Suppressor Network in PI3K-Akt Pathway ControlQ34202681
Frontal lobe functionsQ34566627
Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autismQ35304904
The Role of Epigenetic Change in Autism Spectrum Disorders.Q35646482
Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorderQ36048195
Longitudinal Effects of Adaptive Interventions With a Speech-Generating Device in Minimally Verbal Children With ASDQ37059133
Autism treatment in the first year of life: a pilot study of infant start, a parent-implemented intervention for symptomatic infantsQ37109185
The Genetic Intersection of Neurodevelopmental Disorders and Shared Medical Comorbidities - Relations that Translate from Bench to BedsideQ37192764
Regulation of myelin genes implicated in psychiatric disorders by functional activity in axonsQ37223190
Cognitive characteristics of PTEN hamartoma tumor syndromesQ37640770
The cerebellum and neuropsychological functioning: a critical reviewQ37952014
mTOR signaling and its roles in normal and abnormal brain developmentQ38209310
Annual research review: The (epi)genetics of neurodevelopmental disorders in the era of whole-genome sequencing--unveiling the dark matter.Q38353942
P433issue1
P921main subjectautism spectrum disorderQ1436063
heterozygosityQ124059385
P304page(s)253
P577publication date2019-10-08
P1433published inTranslational PsychiatryQ15716636
P1476titleNeurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN
P478volume9