Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.
Kwong A et al.
Cancers, 2024
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E et al.
Pediatric Neurology, 2023
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.
Zhang L et al.
Molecular Oncology, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.
Hasler HM et al.
Journal of Pediatric Neuropsychology, 2022
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Yakubov E et al.
Oncoscience, 2016
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
Ngeow J et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V et al.
Journal of Medical Genetics, 2013
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
Heindl M et al.
Gastroenterology, 2012
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.
Mester JL et al.
Urology, 2012
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury AR et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Heald B et al.
Gastroenterology, 2010
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
Caux F et al.
European Journal of Human Genetics : Ejhg, 2007
PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.
Bussaglia E et al.
The Journal of Investigative Dermatology, 2002