Associated Papers
When Benign Is Not Simple: Suspicious Thyroid Scintigraphy Revealing PTEN Hamartoma Tumor Syndrome in a Pediatric Patient.
Nazerani-Zemann T et al.
Clinical Nuclear Medicine, 2026
Papillary Thyroid Carcinoma With 5 Unique Point Mutations and Typical Behavior.
Chauhan A et al.
Jcem Case Reports, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Martín-Valbuena J et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2024
Refractory ovarian squamous cell carcinoma arising from a seromucinous borderline tumor with squamous overgrowth: A case report.
Tamura R et al.
Gynecologic Oncology Reports, 2024
Renal Neoplasia Occurring in Patients With PTEN Hamartoma Tumor Syndrome : Clinicopathologic Study of 12 Renal Cell Carcinomas From 9 Patients and Association With Intrarenal "Lipomas".
Kozman D et al.
The American Journal of Surgical Pathology, 2023
Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants.
Desjardins C et al.
Journal of Medical Genetics, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Clinical impact of subclonal EGFR T790M mutations in advanced-stage EGFR-mutant non-small-cell lung cancers.
Vaclova T et al.
Nature Communications, 2021
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL et al.
European Journal of Cancer (oxford, England : 1990), 2019
Patterns of genomic evolution in advanced melanoma.
Birkeland E et al.
Nature Communications, 2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
Somatic mutations in salivary duct carcinoma and potential therapeutic targets.
Khoo TK et al.
Oncotarget, 2017
Impact of PTEN abnormalities on outcome in pediatric patients with T-cell acute lymphoblastic leukemia treated on the MRC UKALL2003 trial.
Jenkinson S et al.
Leukemia, 2016
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.
Steffann J et al.
European Journal of Human Genetics : Ejhg, 2014