Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
paper
Cited
Public
Unavailable
- Authors
- Butler, M G; Dasouki, M J; Zhou, X-P; Talebizadeh, Z; Brown, M; Takahashi, T N; Miles, J H; Wang, C H; Stratton, R; Pilarski, R; Eng, C
- Year
- 2005
- Journal
- Journal of medical genetics
- PMID
- 15805158
- DOI
- 10.1136/jmg.2004.024646
- PMCID
- PMC1736032
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural features resembling autism as well as overgrowth and macrocephaly. Therefore, we undertook PTEN gene mutation analysis in 18 subjects mainly prospectively ascertained with autism spectrum disorder and macrocephaly. Of these 18 autistic subjects (13 males and five females; ages 3.1-18.4 years) with a head circumference range from 2.5 to 8.0 standard deviations above the mean, three males (17%) carried germline PTEN mutations. These three probands had previously undescribed PTEN mutations: H93R (exon 4), D252G (exon 7), and F241S (exon 7). They had the larger head circumference measurements amongst all our study subjects. The three residues altered in our patients were highly evolutionarily conserved. We suggest that PTEN gene testing be considered for patients with autistic behaviour and extreme macrocephaly. The gene findings may impact on recurrence risks as well as medical management for the patient.
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| Feedback regulation of RTK signaling in development. | Neben CL et al. | โ | 2019 | โ |
| GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes. | Gabrielli AP et al. | โ | 2019 | โ |
| Genetic mechanisms of regression in autism spectrum disorder. | Tammimies K | โ | 2019 | โ |
| Genetic Suppression of mTOR Rescues Synaptic and Social Behavioral Abnormalities in a Mouse Model of Pten Haploinsufficiency. | Huang WC et al. | โ | 2019 | โ |
| Genome-wide association study and identification of chromosomal enhancer maps in multiple brain regions related to autism spectrum disorder. | Zhang L et al. | โ | 2019 | โ |
| Getting to the Cores of Autism. | Iakoucheva LM et al. | โ | 2019 | โ |
| High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses. | Padula SL et al. | โ | 2019 | โ |
| <i>PTEN</i> gene mutations in patients with macrocephaly and classic autism: A systematic review. | Zahedi Abghari F et al. | โ | 2019 | โ |
| <i>PTEN</i> Hamartoma Tumor Syndrome: A Clinical Overview. | Pilarski R | โ | 2019 | โ |
| Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders. | Gantois I et al. | โ | 2019 | โ |
| Multi-model functionalization of disease-associated <i>PTEN</i> missense mutations identifies multiple molecular mechanisms underlying protein dysfunction | Post KL et al. | โ | 2019 | โ |
| Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. | Busch RM et al. | โ | 2019 | โ |
| Neuroligin 3 Regulates Dendritic Outgrowth by Modulating Akt/mTOR Signaling. | Xu J et al. | โ | 2019 | โ |
| Phosphoinositides: Regulators of Nervous System Function in Health and Disease. | Raghu P et al. | โ | 2019 | โ |
| PI3K pathway defects leading to immunodeficiency and immune dysregulation. | Nunes-Santos CJ et al. | โ | 2019 | โ |
| Preclinical neuroimaging of gene-environment interactions in psychiatric disease. | Yi SY et al. | โ | 2019 | โ |
| Pten haploinsufficiency disrupts scaling across brain areas during development in mice. | Clipperton-Allen AE et al. | โ | 2019 | โ |
| PTEN in Autism and Neurodevelopmental Disorders. | Rademacher S et al. | โ | 2019 | โ |
| PTEN-opathies: from biological insights to evidence-based precision medicine. | Yehia L et al. | โ | 2019 | โ |
| Sex Differences in the Effects of Prenatal Bisphenol A Exposure on Genes Associated with Autism Spectrum Disorder in the Hippocampus. | Thongkorn S et al. | โ | 2019 | โ |
| The expanding spectrum of neurological disorders of phosphoinositide metabolism. | Volpatti JR et al. | โ | 2019 | โ |
| The Impact of Genetic Variants on <i>PTEN</i> Molecular Functions and Cellular Phenotypes. | Hasle N et al. | โ | 2019 | โ |
| 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: <i>PTEN</i>-opathies and precision medicine. | Yehia L et al. | โ | 2018 | โ |
| A126 in the active site and TI167/168 in the TI loop are essential determinants of the substrate specificity of PTEN. | Leitner MG et al. | โ | 2018 | โ |
| Abnormal mTOR Activation in Autism. | Winden KD et al. | โ | 2018 | โ |
| A family with PTEN mutations with malignancy and an unusually high number of offspring with autism spectrum disorder: a case report. | Gruhl SL et al. | โ | 2018 | โ |
| A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. | Mighell TL et al. | โ | 2018 | โ |
| Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome. | Balci TB et al. | โ | 2018 | โ |
| Building Models of Brain Disorders with Three-Dimensional Organoids. | Amin ND et al. | โ | 2018 | โ |
| Dendritic spine anomalies and PTEN alterations in a mouse model of VPA-induced autism spectrum disorder. | Mahmood U et al. | โ | 2018 | โ |
| [Dichotomous classification of autism spectrum disorders: syndromal and non-syndromal forms]. | Solov'eva NV et al. | โ | 2018 | โ |
| Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood. | Kato K et al. | โ | 2018 | โ |
| Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing. | Cavaillรฉ M et al. | โ | 2018 | โ |
| Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. | Mester JL et al. | โ | 2018 | โ |
| Genomics of autism spectrum disorder: approach to therapy. | Ayhan F et al. | โ | 2018 | โ |
| Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly. | Wong CW et al. | โ | 2018 | โ |
| Intermittent fasting uncovers and rescues cognitive phenotypes in PTEN neuronal haploinsufficient mice. | Cabral-Costa JV et al. | โ | 2018 | โ |
| Macrocephaly: Solving the Diagnostic Dilemma. | Tan AP et al. | โ | 2018 | โ |
| Modeling Neurological Diseases With Human Brain Organoids. | Wang H | โ | 2018 | โ |
| Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in <i>Tsc-1</i>-Suppressed Brain. | Cox RL et al. | โ | 2018 | โ |
| Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis. | Kurata H et al. | โ | 2018 | โ |
| Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model. | Kozol RA | โ | 2018 | โ |
| PTEN Inhibition in Human Disease Therapy. | Pulido R | โ | 2018 | โ |
| PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy. | Haddadi N et al. | โ | 2018 | โ |
| Pyramidal cell regulation of interneuron survival sculpts cortical networks. | Wong FK et al. | โ | 2018 | โ |
| Regulation of PTEN expression by noncoding RNAs. | Li W et al. | โ | 2018 | โ |
| Serum proteomic analysis of the antiโarthritic effects of sinomenine on rats with collagenโinduced arthritis. | Qian X et al. | โ | 2018 | โ |
| Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder. | Green CC et al. | โ | 2018 | โ |
| Synaptopathology Involved in Autism Spectrum Disorder. | Guang S et al. | โ | 2018 | โ |
| Translation deregulation in human disease. | Tahmasebi S et al. | โ | 2018 | โ |
| A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. | Pavone P et al. | โ | 2017 | โ |
| A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. | Hansen-Kiss E et al. | โ | 2017 | โ |
| Autism spectrum disorder-associated genes and the development of dentate granule cells. | Ito H et al. | โ | 2017 | โ |
| Bio-collections in autism research. | Reilly J et al. | โ | 2017 | โ |
| Breast cancer risk and clinical implications for germline PTEN mutation carriers. | Ngeow J et al. | โ | 2017 | โ |
| Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. | Deshpande A et al. | โ | 2017 | โ |
| Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | Chen HJ et al. | โ | 2017 | โ |
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. | Loviglio MN et al. | โ | 2017 | โ |
| Clinical Implications for Germline PTEN Spectrum Disorders. | Ngeow J et al. | โ | 2017 | โ |
| Concise Review: Induced Pluripotent Stem Cell Models for Neuropsychiatric Diseases. | Adegbola A et al. | โ | 2017 | โ |
| Defective phosphoinositide metabolism in autism. | Gross C | โ | 2017 | โ |
| Delineating the Common Biological Pathways Perturbed by ASD's Genetic Etiology: Lessons from Network-Based Studies. | Oron O et al. | โ | 2017 | โ |
| Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder? | Magdalon J et al. | โ | 2017 | โ |
| Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. | Gilbert J et al. | โ | 2017 | โ |
| Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity. | Liu X et al. | โ | 2017 | โ |
| Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. | Yeung KS et al. | โ | 2017 | โ |
| Induction of Expansion and Folding in Human Cerebral Organoids. | Li Y et al. | โ | 2017 | โ |
| Mir-132/212 is required for maturation of binocular matching of orientation preference and depth perception. | Mazziotti R et al. | โ | 2017 | โ |
| Modeling of Autism Using Organoid Technology. | Choi H et al. | โ | 2017 | โ |
| NS-<i>Pten</i> knockout mice show sex- and age-specific differences in ultrasonic vocalizations. | Binder MS et al. | โ | 2017 | โ |
| Organoid and Organ-On-A-Chip Systems: New Paradigms for Modeling Neurological and Gastrointestinal Disease. | Akhtar AA et al. | โ | 2017 | โ |
| PTEN Loss Increases the Connectivity of Fast Synaptic Motifs and Functional Connectivity in a Developing Hippocampal Network. | Barrows CM et al. | โ | 2017 | โ |
| PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule. | Nyuzuki H et al. | โ | 2017 | โ |
| Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder. | El-Baz F et al. | โ | 2017 | โ |
| The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. | Loviglio MN et al. | โ | 2017 | โ |
| The neuroanatomy of autism - a developmental perspective. | Donovan AP et al. | โ | 2017 | โ |
| Variant Interpretation: Functional Assays to the Rescue. | Starita LM et al. | โ | 2017 | โ |
| A Genome-Wide Association Study to Identify Potential Germline Copy Number Variants for Sporadic Breast Cancer Susceptibility. | Sapkota Y et al. | โ | 2016 | โ |
| A Short Review on the Current Understanding of Autism Spectrum Disorders. | Park HR et al. | โ | 2016 | โ |
| A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. | Lin YC et al. | โ | 2016 | โ |
| Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate. | Darbro BW et al. | โ | 2016 | โ |
| Autism-relevant behaviors are minimally impacted by conditional deletion of Pten in oxytocinergic neurons. | Clipperton-Allen AE et al. | โ | 2016 | โ |
| Behavioral phenotypes of genetic mouse models of autism. | Kazdoba TM et al. | โ | 2016 | โ |
| Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders. | Kim KC et al. | โ | 2016 | โ |
| Clinical Genetic Aspects of ASD Spectrum Disorders. | Schaefer GB | โ | 2016 | โ |
| Impairments in dendrite morphogenesis as etiology for neurodevelopmental disorders and implications for therapeutic treatments. | Copf T | โ | 2016 | โ |
| Inherited PTEN mutations and the prediction of phenotype. | Leslie NR et al. | โ | 2016 | โ |
| Knowledge-Guided Bioinformatics Model for Identifying Autism Spectrum Disorder Diagnostic MicroRNA Biomarkers. | Shen L et al. | โ | 2016 | โ |
| Lessons learned from studying syndromic autism spectrum disorders. | Sztainberg Y et al. | โ | 2016 | โ |
| MECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in Malignancy. | Neupane M et al. | โ | 2016 | โ |
| Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links. | Hulbert SW et al. | โ | 2016 | โ |
| mTOR, a Potential Target to Treat Autism Spectrum Disorder. | Sato A | โ | 2016 | โ |
| Mutation of the 3-Phosphoinositide-Dependent Protein Kinase 1 (PDK1) Substrate-Docking Site in the Developing Brain Causes Microcephaly with Abnormal Brain Morphogenesis Independently of Akt, Leading to Impaired Cognition and Disruptive Behaviors. | Cordรณn-Barris L et al. | โ | 2016 | โ |
| Neocortical neurogenesis and the etiology of autism spectrum disorder. | Packer A | โ | 2016 | โ |
| Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder. | Tilot AK et al. | โ | 2016 | โ |
| Neurotensin stimulates sortilin and mTOR in human microglia inhibitable by methoxyluteolin, a potential therapeutic target for autism. | Patel AB et al. | โ | 2016 | โ |
| Overview: referrals for genetic evaluation from child psychiatrists. | Press KR et al. | โ | 2016 | โ |
| Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder. | Blackmon K et al. | โ | 2016 | โ |
| Perturbed proteostasis in autism spectrum disorders. | Louros SR et al. | โ | 2016 | โ |
| Prenatal Neurogenesis in Autism Spectrum Disorders. | Kaushik G et al. | โ | 2016 | โ |
| Prenatal valproate treatment produces autistic-like behavior and increases metabotropic glutamate receptorย 1A-immunoreactivity in the hippocampus of juvenile rats. | Peralta F et al. | โ | 2016 | โ |
| Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons. | Getz SA et al. | โ | 2016 | โ |
| Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. | Keppler-Noreuil KM et al. | โ | 2016 | โ |
| The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia. | Enriquez-Barreto L et al. | โ | 2016 | โ |
| Ulk4 Regulates Neural Stem Cell Pool. | Liu M et al. | โ | 2016 | โ |
| Approaching motor and language deficits in autism from below: a biolinguistic perspective. | Benรญtez-Burraco A et al. | โ | 2015 | โ |
| A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. | Kun-Rodrigues C et al. | โ | 2015 | โ |
| Autism spectrum disorder and epilepsy: Disorders with a shared biology. | Lee BH et al. | โ | 2015 | โ |
| Autism spectrum disorders: from genes to neurobiology. | Willsey AJ et al. | โ | 2015 | โ |
| Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder. | Tilot AK et al. | โ | 2015 | โ |
| C. elegans as a model to study PTEN's regulation and function. | Liu J et al. | โ | 2015 | โ |
| Characterizing autism spectrum disorders by key biochemical pathways. | Subramanian M et al. | โ | 2015 | โ |
| Clinical and molecular heterogeneity in brazilian patients with sotos syndrome. | Vieira GH et al. | โ | 2015 | โ |
| Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. | Busa T et al. | โ | 2015 | โ |
| Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders. | Gao R et al. | โ | 2015 | โ |
| Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. | Mester J et al. | โ | 2015 | โ |
| CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment. | Wang P et al. | โ | 2015 | โ |
| Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits. | He X et al. | โ | 2015 | โ |
| Decreased aggression and increased repetitive behavior in Pten haploinsufficient mice. | Clipperton-Allen AE et al. | โ | 2015 | โ |
| Dendritic spine dysgenesis in autism related disorders. | Phillips M et al. | โ | 2015 | โ |
| Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. | Ngeow J et al. | โ | 2015 | โ |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | โ | 2015 | โ |
| Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. | Spinelli L et al. | โ | 2015 | โ |
| Hereditary breast cancer syndromes and genetic testing. | Rich TA et al. | โ | 2015 | โ |
| High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders. | Butler MG et al. | โ | 2015 | โ |
| Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive. | Williams MR et al. | โ | 2015 | โ |
| Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR. | Oguro-Ando A et al. | โ | 2015 | โ |
| Inhibition of Group I Metabotropic Glutamate Receptors Reverses Autistic-Like Phenotypes Caused by Deficiency of the Translation Repressor eIF4E Binding Protein 2. | Aguilar-Valles A et al. | โ | 2015 | โ |
| Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. | Frazier TW et al. | โ | 2015 | โ |
| Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders. | Schubert D et al. | โ | 2015 | โ |
| mTOR signaling in epilepsy: insights from malformations of cortical development. | Crino PB | โ | 2015 | โ |
| Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. | Barnard RA et al. | โ | 2015 | โ |
| Ndfip1 represses cell proliferation by controlling Pten localization and signaling specificity. | Howitt J et al. | โ | 2015 | โ |
| Overweight and Obesity in a Sample of Children With Autism Spectrum Disorder. | de Vinck-Baroody O et al. | โ | 2015 | โ |
| [Pathology and treatment of autism spectrum disorders]. | Kotajima-Murakami H et al. | โ | 2015 | โ |
| Prefrontal Cortex and Social Cognition in Mouse and Man. | Bicks LK et al. | โ | 2015 | โ |
| PTEN: a yin-yang master regulator protein in health and disease. | Pulido R | โ | 2015 | โ |
| PTEN functions by recruitment to cytoplasmic vesicles. | Naguib A et al. | โ | 2015 | โ |
| PTEN hamartoma tumor syndrome. | Mester J et al. | โ | 2015 | โ |
| PTEN hamartoma tumor syndrome: clinical risk assessment and management protocol. | Ngeow J et al. | โ | 2015 | โ |
| Pten Mutations Alter Brain Growth Trajectory and Allocation of Cell Types through Elevated ฮฒ-Catenin Signaling. | Chen Y et al. | โ | 2015 | โ |
| Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L. | Nebel RA et al. | โ | 2015 | โ |
| Regulation of recombination and genomic maintenance. | Heyer WD | โ | 2015 | โ |
| Risk of cancer in children, adolescents, and young adults with autistic disorder. | Chiang HL et al. | โ | 2015 | โ |
| Roles of mTOR Signaling in Brain Development. | Lee DY | โ | 2015 | โ |
| Social Behavioral Deficits Coincide with the Onset of Seizure Susceptibility in Mice Lacking Serotonin Receptor 2c. | Sรฉjournรฉ J et al. | โ | 2015 | โ |
| The parvalbumin/somatostatin ratio is increased in Pten mutant mice and by human PTEN ASD alleles. | Vogt D et al. | โ | 2015 | โ |
| Whole exome sequencing in females with autism implicates novel and candidate genes. | Butler MG et al. | โ | 2015 | โ |
| Advanced pharmacotherapy evidenced by pathogenesis of autism spectrum disorder. | Lee YJ et al. | โ | 2014 | โ |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | โ | 2014 | โ |
| Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus. | Amiri A et al. | โ | 2014 | โ |
| Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening. | Marchese M et al. | โ | 2014 | โ |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | โ | 2014 | โ |
| Bannayan-Riley-Ruvalcaba syndrome: MRI neuroimaging features in a series of 7 patients. | Bhargava R et al. | โ | 2014 | โ |
| Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. | Hobert JA et al. | โ | 2014 | โ |
| Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. | Vanderver A et al. | โ | 2014 | โ |
| Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review. | Stanich PP et al. | โ | 2014 | โ |
| Dendritic spines: the locus of structural and functional plasticity. | Sala C et al. | โ | 2014 | โ |
| Disruptive CHD8 mutations define a subtype of autism early in development. | Bernier R et al. | โ | 2014 | โ |
| Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. | Kong SW et al. | โ | 2014 | โ |
| Early head growth in infants at risk of autism: a baby siblings research consortium study. | Zwaigenbaum L et al. | โ | 2014 | โ |
| Fatty acids increase neuronal hypertrophy of Pten knockdown neurons. | Fricano CJ et al. | โ | 2014 | โ |
| Genetically meaningful phenotypic subgroups in autism spectrum disorders. | Veatch OJ et al. | โ | 2014 | โ |
| Genetic aspects of autism spectrum disorders: insights from animal models. | Banerjee S et al. | โ | 2014 | โ |
| Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production. | Tilot AK et al. | โ | 2014 | โ |
| Hippocampal granule cell pathology in epilepsy - a possible structural basis for comorbidities of epilepsy? | Hester MS et al. | โ | 2014 | โ |
| Increased risk of very low birth weight, rapid postnatal growth, and autism in underweight and obese mothers. | Moss BG et al. | โ | 2014 | โ |
| Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. | Lasarge CL et al. | โ | 2014 | โ |
| Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. | Mirzaa GM et al. | โ | 2014 | โ |
| Neurobiology of autism gene products: towards pathogenesis and drug targets. | Kleijer KT et al. | โ | 2014 | โ |
| NPAS1 represses the generation of specific subtypes of cortical interneurons. | Stanco A et al. | โ | 2014 | โ |
| Overgrowth syndromes with complex vascular anomalies. | Uller W et al. | โ | 2014 | โ |
| Overview of mouse models of autism spectrum disorders. | Bey AL et al. | โ | 2014 | โ |
| PTEN: A master regulator of neuronal structure, function, and plasticity. | Garcia-Junco-Clemente P et al. | โ | 2014 | โ |
| PTEN function: the long and the short of it. | Hopkins BD et al. | โ | 2014 | โ |
| Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests. | Clipperton-Allen AE et al. | โ | 2014 | โ |
| PTEN knockdown alters dendritic spine/protrusion morphology, not density. | Haws ME et al. | โ | 2014 | โ |
| Quantitative phosphoproteomics of murine Fmr1-KO cell lines provides new insights into FMRP-dependent signal transduction mechanisms. | Matic K et al. | โ | 2014 | โ |
| Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. | Gupta AR et al. | โ | 2014 | โ |
| Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders. | Santini E et al. | โ | 2014 | โ |
| Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders. | Kreis P et al. | โ | 2014 | โ |
| The developmental pattern of the RAS/RAF/Erk1/2 pathway in the BTBR autism mouse model. | Yin A et al. | โ | 2014 | โ |
| The genetic landscape of autism spectrum disorders. | Rosti RO et al. | โ | 2014 | โ |
| The neurology of mTOR. | Lipton JO et al. | โ | 2014 | โ |
| The shape of the human language-ready brain. | Boeckx C et al. | โ | 2014 | โ |
| Treating the whole person with autism: the proceedings of the Autism Speaks National Autism Conference. | Coury DL et al. | โ | 2014 | โ |
| Tsc2 Haploinsufficiency Has Limited Effects on Fetal Brain Cytokine Levels during Gestational Immune Activation. | Ehninger D | โ | 2014 | โ |
| Using genetic findings in autism for the development of new pharmaceutical compounds. | Vorstman JA et al. | โ | 2014 | โ |
| A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene. | George Priya Doss C et al. | โ | 2013 | โ |
| An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma. | Minhas HM et al. | โ | 2013 | โ |
| Autism as early neurodevelopmental disorder: evidence for an sAPPฮฑ-mediated anabolic pathway. | Lahiri DK et al. | โ | 2013 | โ |
| Autism genetics. | Persico AM et al. | โ | 2013 | โ |
| Autism spectrum disorders: the quest for genetic syndromes. | Zafeiriou DI et al. | โ | 2013 | โ |
| Contribution of long noncoding RNAs to autism spectrum disorder risk. | Wilkinson B et al. | โ | 2013 | โ |
| Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. | Pilarski R et al. | โ | 2013 | โ |
| Deletion of PTEN produces deficits in conditioned fear and increases fragile X mental retardation protein. | Lugo JN et al. | โ | 2013 | โ |
| Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism. | Takeuchi K et al. | โ | 2013 | โ |
| Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders. | Stamova BS et al. | โ | 2013 | โ |
| Focal malformations of cortical development: new vistas for molecular pathogenesis. | Lim KC et al. | โ | 2013 | โ |
| High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. | Bubien V et al. | โ | 2013 | โ |
| Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex. | Reith RM et al. | โ | 2013 | โ |
| Macrocephaly as a clinical indicator of genetic subtypes in autism. | Klein S et al. | โ | 2013 | โ |
| Maternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder. | Nordahl CW et al. | โ | 2013 | โ |
| Modeling human neurodevelopmental disorders in the Xenopus tadpole: from mechanisms to therapeutic targets. | Pratt KG et al. | โ | 2013 | โ |
| mTOR Inhibition: From Aging to Autism and Beyond. | Kaeberlein M | โ | 2013 | โ |
| Neuronal autophagy and neurodevelopmental disorders. | Lee KM et al. | โ | 2013 | โ |
| Neuropathology and animal models of autism: genetic and environmental factors. | Gadad BS et al. | โ | 2013 | โ |
| Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. | Busa T et al. | โ | 2013 | โ |
| Phosphorylation of the actin binding protein Drebrin at S647 is regulated by neuronal activity and PTEN. | Kreis P et al. | โ | 2013 | โ |
| Progress toward treatments for synaptic defects in autism. | Delorme R et al. | โ | 2013 | โ |
| PtdIns(4,5)P2-mediated cell signaling: emerging principles and PTEN as a paradigm for regulatory mechanism. | Gericke A et al. | โ | 2013 | โ |
| PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. | Piccione M et al. | โ | 2013 | โ |
| PTEN modulators: a patent review. | Boosani CS et al. | โ | 2013 | โ |
| Role of the PTEN signaling pathway in autism spectrum disorder. | Lv JW et al. | โ | 2013 | โ |
| Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient background. | Napoli E et al. | โ | 2013 | โ |
| Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action. | Lanz TA et al. | โ | 2013 | โ |
| Up-regulation of Ras/Raf/ERK1/2 signaling impairs cultured neuronal cell migration, neurogenesis, synapse formation, and dendritic spine development. | Yang K et al. | โ | 2013 | โ |
| When overgrowth bumps into cancer: the PTEN-opathies. | Mester J et al. | โ | 2013 | โ |
| Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. | Chow ML et al. | โ | 2012 | โ |
| Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry. | Butler MG et al. | โ | 2012 | โ |
| Autism genetics: searching for specificity and convergence. | Berg JM et al. | โ | 2012 | โ |
| Deconvoluting mTOR biology. | Weber JD et al. | โ | 2012 | โ |
| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. | Riviรจre JB et al. | โ | 2012 | โ |
| Development and characterization of NEX- Pten, a novel forebrain excitatory neuron-specific knockout mouse. | Kazdoba TM et al. | โ | 2012 | โ |
| Dysregulation of Rho GTPases in the ฮฑPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. | Ramakers GJ et al. | โ | 2012 | โ |
| Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes. | Thanseem I et al. | โ | 2012 | โ |
| FoxO6 regulates memory consolidation and synaptic function. | Salih DA et al. | โ | 2012 | โ |
| Genetic testing by cancer site: uterus. | Daniels MS | โ | 2012 | โ |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | โ | 2012 | โ |
| Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. | Ehninger D et al. | โ | 2012 | โ |
| Lifetime cancer risks in individuals with germline PTEN mutations. | Tan MH et al. | โ | 2012 | โ |
| Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. | Pescosolido MF et al. | โ | 2012 | โ |
| Membrane association of the PTEN tumor suppressor: molecular details of the protein-membrane complex from SPR binding studies and neutron reflection. | Shenoy S et al. | โ | 2012 | โ |
| Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53. | Napoli E et al. | โ | 2012 | โ |
| Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. | Veenstra-VanderWeele J et al. | โ | 2012 | โ |
| Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy. | Conti S et al. | โ | 2012 | โ |
| Phosphatase and tensin homologue (PTEN) regulates synaptic plasticity independently of its effect on neuronal morphology and migration. | Sperow M et al. | โ | 2012 | โ |
| Plasma cytokine levels in children with autistic disorder and unrelated siblings. | Manzardo AM et al. | โ | 2012 | โ |
| Pten deletion in adult hippocampal neural stem/progenitor cells causes cellular abnormalities and alters neurogenesis. | Amiri A et al. | โ | 2012 | โ |
| PTEN regulation of local and long-range connections in mouse auditory cortex. | Xiong Q et al. | โ | 2012 | โ |
| PTEN signaling in autism spectrum disorders. | Zhou J et al. | โ | 2012 | โ |
| Ras-dependent and Ras-independent effects of PI3K inย Drosophila motor neurons. | Johnson C et al. | โ | 2012 | โ |
| Retrograde changes in presynaptic function driven by dendritic mTORC1. | Henry FE et al. | โ | 2012 | โ |
| Spherical harmonic analysis of cortical complexity in autism and dyslexia. | Williams EL et al. | โ | 2012 | โ |
| Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders. | Spooren W et al. | โ | 2012 | โ |
| Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. | Gross C et al. | โ | 2012 | โ |
| Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors. | Al-Zaid T et al. | โ | 2012 | โ |
| Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. | Flore LA et al. | โ | 2012 | โ |
| Abnormal brain protein synthesis in language areas of children with pervasive developmental disorder: a L-[1-11C]-leucine PET study. | Shandal V et al. | โ | 2011 | โ |
| A candidate circuit approach to investigating autism. | Page DT | โ | 2011 | โ |
| A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. | Tan MH et al. | โ | 2011 | โ |
| A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. | Rodrรญguez-Escudero I et al. | โ | 2011 | โ |
| Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. | Mester JL et al. | โ | 2011 | โ |
| A new synaptic player leading to autism risk: Met receptor tyrosine kinase. | Judson MC et al. | โ | 2011 | โ |
| Annual Research Review: Development of the cerebral cortex: implications for neurodevelopmental disorders. | Rubenstein JL | โ | 2011 | โ |
| Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders. | Robertson HR et al. | โ | 2011 | โ |
| Autism, Alzheimer disease, and fragile X: APP, FMRP, and mGluR5 are molecular links. | Sokol DK et al. | โ | 2011 | โ |
| Autism and cancer risk. | Crespi B | โ | 2011 | โ |
| Behavioral profiles of mouse models for autism spectrum disorders. | Ey E et al. | โ | 2011 | โ |
| Dendritic spine pathology in neuropsychiatric disorders. | Penzes P et al. | โ | 2011 | โ |
| Dysregulated mTORC1-Dependent Translational Control: From Brain Disorders to Psychoactive Drugs. | Santini E et al. | โ | 2011 | โ |
| Early generalized overgrowth in boys with autism. | Chawarska K et al. | โ | 2011 | โ |
| Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. | Betancur C | โ | 2011 | โ |
| Frontal-subcortical protein expression following prenatal exposure to maternal inflammation. | Deng MY et al. | โ | 2011 | โ |
| [Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?]. | Nickl-Jockschat T et al. | โ | 2011 | โ |
| Genetic risk in autism: new associations and clinical testing. | Freitag CM | โ | 2011 | โ |
| Israeli children with autism spectrum disorder are not macrocephalic. | Davidovitch M et al. | โ | 2011 | โ |
| Local RNA translation at the synapse and in disease. | Liu-Yesucevitz L et al. | โ | 2011 | โ |
| Malignant fibrous histiocytoma two years after autologous stem cell transplant for Hodgkin lymphoma: evidence for genomic instability. | Chandrakasan S et al. | โ | 2011 | โ |
| Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. | Tsai P et al. | โ | 2011 | โ |
| NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons. | Yokoyama K et al. | โ | 2011 | โ |
| Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. | Schaaf CP et al. | โ | 2011 | โ |
| Pathways underlying the gut-to-brain connection in autism spectrum disorders as future targets for disease management. | de Theije CG et al. | โ | 2011 | โ |
| Protein kinases and phosphatases in the control of cell fate. | Bononi A et al. | โ | 2011 | โ |
| Pten knockdown in vivo increases excitatory drive onto dentate granule cells. | Luikart BW et al. | โ | 2011 | โ |
| Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders. | Ehninger D et al. | โ | 2011 | โ |
| Ras and Rap signaling in synaptic plasticity and mental disorders. | Stornetta RL et al. | โ | 2011 | โ |
| The metabotropic glutamate receptor activates the lipid kinase PI3K in Drosophila motor neurons through the calcium/calmodulin-dependent protein kinase II and the nonreceptor tyrosine protein kinase DFak. | Chun-Jen Lin C et al. | โ | 2011 | โ |
| TSC1/TSC2 signaling in the CNS. | Han JM et al. | โ | 2011 | โ |
| A genome-wide scan for common alleles affecting risk for autism. | Anney R et al. | โ | 2010 | โ |
| A mutant form of PTEN linked to autism. | Redfern RE et al. | โ | 2010 | โ |
| Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. | Malan V et al. | โ | 2010 | โ |
| Autism in children and adolescents with cancer. | Blatt J et al. | โ | 2010 | โ |
| Autism spectrum disorders and epigenetics. | Grafodatskaya D et al. | โ | 2010 | โ |
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. | McBride KL et al. | โ | 2010 | โ |
| Dysregulation of mTOR signaling in fragile X syndrome. | Sharma A et al. | โ | 2010 | โ |
| Elevated phosphatidylinositol 3,4,5-trisphosphate in glia triggers cell-autonomous membrane wrapping and myelination. | Goebbels S et al. | โ | 2010 | โ |
| Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. | Crespi B et al. | โ | 2010 | โ |
| Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. | Hagerman R et al. | โ | 2010 | โ |
| Fragile X: leading the way for targeted treatments in autism. | Wang LW et al. | โ | 2010 | โ |
| Genetic causes of syndromic and non-syndromic autism. | Caglayan AO | โ | 2010 | โ |
| Genetics of autistic disorders: review and clinical implications. | Freitag CM et al. | โ | 2010 | โ |
| Genotator: a disease-agnostic tool for genetic annotation of disease. | Wall DP et al. | โ | 2010 | โ |
| Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. | Toro R et al. | โ | 2010 | โ |
| Mendelian genetics of rare--and not so rare--cancers. | Eng C | โ | 2010 | โ |
| mTOR signaling: at the crossroads of plasticity, memory and disease. | Hoeffer CA et al. | โ | 2010 | โ |
| Neural stem cell regulation, fibroblast growth factors, and the developmental origins of neuropsychiatric disorders. | Stevens HE et al. | โ | 2010 | โ |
| ProNGF induces PTEN via p75NTR to suppress Trk-mediated survival signaling in brain neurons. | Song W et al. | โ | 2010 | โ |
| PTEN is recruited to the postsynaptic terminal for NMDA receptor-dependent long-term depression. | Jurado S et al. | โ | 2010 | โ |
| STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice. | Orlova KA et al. | โ | 2010 | โ |
| The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. | State MW | โ | 2010 | โ |
| The prodrome of autism: early behavioral and biological signs, regression, peri- and post-natal development and genetics. | Yirmiya N et al. | โ | 2010 | โ |
| The tuberous sclerosis complex. | Orlova KA et al. | โ | 2010 | โ |
| Adult reversal of cognitive phenotypes in neurodevelopmental disorders. | Silva AJ et al. | โ | 2009 | โ |
| A meta-analysis of the corpus callosum in autism. | Frazier TW et al. | โ | 2009 | โ |
| Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. | Lintas C et al. | โ | 2009 | โ |
| Autoimmunity in autism. | Enstrom AM et al. | โ | 2009 | โ |
| Big heads, small details and autism. | White S et al. | โ | 2009 | โ |
| Cowden syndrome: a critical review of the clinical literature. | Pilarski R | โ | 2009 | โ |
| Deregulation of EIF4E: a novel mechanism for autism. | Neves-Pereira M et al. | โ | 2009 | โ |
| Fragile X: a family of disorders. | Chonchaiya W et al. | โ | 2009 | โ |
| Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. | Hu VW et al. | โ | 2009 | โ |
| Genetic advances in autism: heterogeneity and convergence on shared pathways. | Bill BR et al. | โ | 2009 | โ |
| Hamartomatous polyposis syndromes. | Gammon A et al. | โ | 2009 | โ |
| Haploinsufficiency for Pten and Serotonin transporter cooperatively influences brain size and social behavior. | Page DT et al. | โ | 2009 | โ |
| Increased IgG4 levels in children with autism disorder. | Enstrom A et al. | โ | 2009 | โ |
| Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. | Way SW et al. | โ | 2009 | โ |
| Making synaptic plasticity and memory last: mechanisms of translational regulation. | Richter JD et al. | โ | 2009 | โ |
| Microduplications of 16p11.2 are associated with schizophrenia. | McCarthy SE et al. | โ | 2009 | โ |
| Nuclear and mitochondrial genome defects in autisms. | Smith M et al. | โ | 2009 | โ |
| Pathogenesis of autism: a patchwork of genetic causes. | Grigorenko EL | โ | 2009 | โ |
| Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. | Zhou J et al. | โ | 2009 | โ |
| Phosphatase and tensin homologue deleted on chromosome 10: extending its PTENtacles. | Stiles BL | โ | 2009 | โ |
| Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia. | Ljungberg MC et al. | โ | 2009 | โ |
| Regulation of cerebral cortical size and neuron number by fibroblast growth factors: implications for autism. | Vaccarino FM et al. | โ | 2009 | โ |
| The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. | Levitt P et al. | โ | 2009 | โ |
| Using zebrafish to assess the impact of drugs on neural development and function. | Guo S | โ | 2009 | โ |
| Advances in autism genetics: on the threshold of a new neurobiology. | Abrahams BS et al. | โ | 2008 | โ |
| A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer. | Tate G et al. | โ | 2008 | โ |
| Cap-dependent translation initiation and memory. | Banko JL et al. | โ | 2008 | โ |
| Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. | Schaefer GB et al. | โ | 2008 | โ |
| Current developments in the genetics of autism: from phenome to genome. | Losh M et al. | โ | 2008 | โ |
| Function of PTEN during the formation and maintenance of neuronal circuits in the brain. | van Diepen MT et al. | โ | 2008 | โ |
| Genetic disorders associated with macrocephaly. | Williams CA et al. | โ | 2008 | โ |
| Genetic evaluation of autism. | Mendelsohn NJ et al. | โ | 2008 | โ |
| Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. | Campbell DB et al. | โ | 2008 | โ |
| Heterogeneity and hypothesis testing in neuropsychiatric illness. | Deutsch CK et al. | โ | 2008 | โ |
| Neurotrophin-dependent dendritic filopodial motility: a convergence on PI3K signaling. | Luikart BW et al. | โ | 2008 | โ |
| Pharmacology and genetics of autism: implications for diagnosis and treatment. | Brkanac Z et al. | โ | 2008 | โ |
| Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities. | Fraser MM et al. | โ | 2008 | โ |
| PI3K/Akt: getting it right matters. | Franke TF | โ | 2008 | โ |
| Psychosis and autism as diametrical disorders of the social brain. | Crespi B et al. | โ | 2008 | โ |
| PTEN in brain tumors. | Haas-Kogan D et al. | โ | 2008 | โ |
| PTEN signaling in brain: neuropathology and tumorigenesis. | Endersby R et al. | โ | 2008 | โ |
| Reduced levels of immunoglobulin in children with autism correlates with behavioral symptoms. | Heuer L et al. | โ | 2008 | โ |
| Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. | Jamain S et al. | โ | 2008 | โ |
| Reversing neurodevelopmental disorders in adults. | Ehninger D et al. | โ | 2008 | โ |
| Role of p53 family in birth defects: lessons from zebrafish. | Danilova N et al. | โ | 2008 | โ |
| Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view. | van der Velden JJ et al. | โ | 2008 | โ |
| The autistic neuron: troubled translation? | Kelleher RJ et al. | โ | 2008 | โ |
| The roles of PTEN in development, physiology and tumorigenesis in mouse models: a tissue-by-tissue survey. | Knobbe CB et al. | โ | 2008 | โ |
| Tumorigenesis and neurodegeneration: two sides of the same coin? | Staropoli JF | โ | 2008 | โ |
| A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: potential molecular pathogenic mechanisms. | Pinzone JJ et al. | โ | 2007 | โ |
| A seizure-prone phenotype is associated with altered free-running rhythm in Pten mutant mice. | Ogawa S et al. | โ | 2007 | โ |
| Autism, asthma, inflammation, and the hygiene hypothesis. | Becker KG | โ | 2007 | โ |
| Autism: the quest for the genes. | Sykes NH et al. | โ | 2007 | โ |
| Childhood autism and associated comorbidities. | Zafeiriou DI et al. | โ | 2007 | โ |
| Clinical, morphological, and biochemical correlates of head circumference in autism. | Sacco R et al. | โ | 2007 | โ |
| Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. | Teresi RE et al. | โ | 2007 | โ |
| 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. | Lachlan KL et al. | โ | 2007 | โ |
| Genetic testing in autism: how much is enough? | Herman GE et al. | โ | 2007 | โ |
| Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. | Herman GE et al. | โ | 2007 | โ |
| Molecular mechanisms of autism: a possible role for Ca2+ signaling. | Krey JF et al. | โ | 2007 | โ |
| Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. | Buxbaum JD et al. | โ | 2007 | โ |
| Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. | Buxbaum JD et al. | โ | 2007 | โ |
| Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. | Douglas J et al. | โ | 2007 | โ |
| Negative Regulation of Receptor Tyrosine Kinase (RTK) Signaling: A Developing Field. | Ledda F et al. | โ | 2007 | โ |
| New insights into PTEN. | Tamguney T et al. | โ | 2007 | โ |
| Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. | Balciuniene J et al. | โ | 2007 | โ |
| The neurobiology of autism. | Pardo CA et al. | โ | 2007 | โ |
| The phakomatoses: dermatologic clues to neurologic anomalies. | Nowak CB | โ | 2007 | โ |
| The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. | Tan WH et al. | โ | 2007 | โ |
| Why is PTEN an important tumor suppressor? | Li L et al. | โ | 2007 | โ |
| Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation. | Boccone L et al. | โ | 2006 | โ |
| Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. | Loffeld A et al. | โ | 2006 | โ |
| Epigenetics of autism spectrum disorders. | Schanen NC | โ | 2006 | โ |
| Fragile X syndrome and autism at the intersection of genetic and neural networks. | Belmonte MK et al. | โ | 2006 | โ |
| Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. | Lainhart JE et al. | โ | 2006 | โ |
| Optic nerve alterations in PTEN +/- mice. | Lopez-Sanchez E et al. | โ | 2006 | โ |
| Pten and the brain: sizing up social interaction. | Greer JM et al. | โ | 2006 | โ |
| PTEN function in normal and neoplastic growth. | Chow LM et al. | โ | 2006 | โ |
| Pten regulates neuronal arborization and social interaction in mice. | Kwon CH et al. | โ | 2006 | โ |
| Regulation of the PTEN phosphatase. | Gericke A et al. | โ | 2006 | โ |
| Macrocephaly and the control of brain growth in autistic disorders. | McCaffery P et al. | โ | 2005 | โ |