Associated Papers
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation.
Sagan OA et al.
Frontiers in Oncology, 2023
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD et al.
Annals of Neurology, 2020
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
Lerner-Ellis J et al.
Journal of Medical Genetics, 2020
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
McCabe MJ et al.
Scientific Reports, 2019
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW et al.
Genes, Chromosomes & Cancer, 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
[PTEN mutation in a patient with developmental delay and macrocephaly].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 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
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V et al.
Journal of Medical Genetics, 2013
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
Mester J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Glioblastoma with adipocyte-like tumor cell differentiation--histological and molecular features of a rare differentiation pattern.
Rickert CH et al.
Brain Pathology (zurich, Switzerland), 2009
Two Children with macrocephaly, developmental delay, and PTEN mutation.
Schwab JG et al.
Clinical Pediatrics, 2009
Pre-mRNA splicing aberrations and cancer.
Pettigrew CA et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Agrawal S et al.
Human Molecular Genetics, 2005
Hamartoma and lentiginosis syndromes: clinical and molecular aspects.
Marsh DJ et al.
Frontiers of Hormone Research, 2001
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
Celebi JT et al.
Human Genetics, 2000
Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.
Tok Celebi J et al.
Experimental Dermatology, 1999
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ et al.
Human Molecular Genetics, 1998