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 › NF2
Neurofibromatosis type 2 discordance in monozygous twins.
Amico S et al.
Familial Cancer, 2020
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C et al.
Neuro-oncology, 2018
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
Evans DG et al.
Clinical Genetics, 2007
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
Wallace AJ et al.
Genetic Testing, 2004
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG et al.
Journal of Medical Genetics, 1998
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