Associated Papers
A rare case of large B-cell lymphoma with IRF4 rearrangement and concomitant 11q aberrations: a diagnostic pitfall in the molecular era.
Liu YZ et al.
Virchows Archiv : an International Journal of Pathology, 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Characterizing Variants of Unknown Significance of the PTEN tumour suppressorHomolog DAF-18.
Ermakova G et al.
Micropublication Biology, 2022
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Post KL et al.
Nature Communications, 2020
PTEN in Autism and Neurodevelopmental Disorders.
Rademacher S et al.
Cold Spring Harbor Perspectives in Medicine, 2019
Effects of ASD-associated daf-18/PTEN missense variants on C. elegans dauer development.
González-Cavazos C et al.
Micropublication Biology, 2019
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
Wong WR et al.
Human Molecular Genetics, 2019
PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
Chen HH et al.
The Journal of Allergy and Clinical Immunology, 2017
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
Hobert JA et al.
European Journal of Human Genetics : Ejhg, 2014