Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly

PTEN in Autism and Neurodevelopmental Disorders

(2019) Sebastian Rademacher et al.   Cold Spring Harbor Perspectives in Medicine

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

(2019) William L. Macken et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2019) Robyn M. Busch et al.   Translational Psychiatry

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis

(2018) Hirofumi Kurata et al.   BRAIN & DEVELOPMENT

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN -opathies and precision medicine

(2018) Lamis Yehia et al.   ENDOCRINE-RELATED CANCER

Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes

(2018) Iris Nira Smith et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability

(2018) Carlos HM Rodrigues et al.   NUCLEIC ACIDS RESEARCH

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

(2018) Claudia Ciaccio et al.   European Journal of Medical Genetics

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children

(2017) Emily Hansen-Kiss et al.   JOURNAL OF MEDICAL GENETICS

Inherited PTEN mutations and the prediction of phenotype

(2016) Nicholas R. Leslie et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Pten Mutations Alter Brain Growth Trajectory and Allocation of Cell Types through Elevated  -Catenin Signaling

(2015) Y. Chen et al.   JOURNAL OF NEUROSCIENCE

PTEN hamartoma tumour syndrome: early tumour development in children: Table 1

(2014) Patroula Smpokou et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations

(2014) Joanne Ngeow et al.   JOURNAL OF CLINICAL ONCOLOGY

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

(2014) Laura Spinelli et al.   JOURNAL OF MEDICAL GENETICS

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism

(2014) T W Frazier et al.   MOLECULAR PSYCHIATRY

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

(2013) Adeline Vanderver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

(2013) Steven Klein et al.   Autism Research

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly

(2013) Judith A Hobert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cognitive characteristics of PTEN hamartoma tumor syndromes

(2013) Robyn M. Busch et al.   GENETICS IN MEDICINE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Role of the PTEN signaling pathway in autism spectrum disorder

(2013) Jing-Wen Lv et al.   Neuroscience Bulletin

Nuclear PTEN Regulates the APC-CDH1 Tumor-Suppressive Complex in a Phosphatase-Independent Manner

(2011) Min Sup Song et al.   CELL

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

(2011) Sara Conti et al.   JOURNAL OF CHILD NEUROLOGY

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

Changes in the Developmental Trajectories of Striatum in Autism

(2009) Marieke Langen et al.   BIOLOGICAL PSYCHIATRY

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

(2009) Elizabeth A Varga et al.   GENETICS IN MEDICINE

Phosphatase and tensin homolog (PTEN) regulates hepatic lipogenesis, microsomal triglyceride transfer protein, and the secretion of apolipoprotein B-containing lipoproteins

(2008) Wei Qiu et al.   HEPATOLOGY