Associated Papers
Ophthalmological manifestations in a cohort of Cowden syndrome patients in a large tertiary healthcare system.
Baroutis KG et al.
Eye (london, England), 2025
Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome.
Hartsough E et al.
American Journal of Clinical Pathology, 2024
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
Fountzilas E et al.
International Journal of Molecular Sciences, 2023
PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.
Rahmatinejad Z et al.
Diagnostic Pathology, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Renal Cell Carcinoma: Molecular Aspects.
Kumar A et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2018
PTEN/PTENP1: 'Regulating the regulator of RTK-dependent PI3K/Akt signalling', new targets for cancer therapy.
Haddadi N et al.
Molecular Cancer, 2018
Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.
Li G et al.
Plos One, 2018
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
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
Genetic alterations of PTEN in human melanoma.
Aguissa-Touré AH et al.
Cellular and Molecular Life Sciences : Cmls, 2012
A case of Cowden syndrome diagnosed from multiple gastric polyposis.
Ha M et al.
World Journal of Gastroenterology, 2012
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Heald B et al.
Gastroenterology, 2010
Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
Loffeld A et al.
The British Journal of Dermatology, 2006
Constipation, polyps, or cancer? Let PTEN predict your future.
Eng C
American Journal of Medical Genetics. Part A, 2003
Identification of PTEN mutations in metastatic melanoma specimens.
Celebi JT et al.
Journal of Medical Genetics, 2000