Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
Hansen-Kiss E et al.
Journal of Medical Genetics, 2017
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
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
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.
Cantero D et al.
Neuro-oncology Advances, 0
32642724 (PubMed )
Supplement: vdz059_suppl_suplementary_table_2.xlsx › Supplementary_Table_2
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