Associated Papers
Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.
Zeng Y et al.
Annals of Medicine, 2025
Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.
Zacharias M et al.
Cancers, 2024
The First Familiar Case of PTEN-Related Disorder Reported in Albania.
Bali D et al.
Turkish Archives of Pediatrics, 2023
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Cotto KC et al.
Nature Communications, 2023
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
Cifuentes GA et al.
British Journal of Cancer, 2023
Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation.
Vincenzi G et al.
Frontiers in Endocrinology, 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
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
Teramae S et al.
International Journal of Clinical Oncology, 2022
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L et al.
Orphanet Journal of Rare Diseases, 2022
"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".
Tuli G et al.
Endocrine, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.
Cheng HH et al.
The Prostate, 2016
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
Heald B et al.
Gastroenterology, 2010
Cowden disease in a family: a clinical and genetic diagnosis.
Mangas C et al.
Journal of the American Academy of Dermatology, 2005
Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.
Cohen MM
American Journal of Medical Genetics. Part A, 2003
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
Celebi JT et al.
Human Genetics, 2000
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh DJ et al.
Human Molecular Genetics, 1999