Associated Papers
Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.
Douwes JPJ et al.
Cancers, 2025
39941762 (PubMed )
Supplement: cancers-17-00393-s001.zip › Table_S1-Patient_Characteristics___Genetics.xlsx › Genetics_-_Data
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf
Vestibular dysfunction in neurofibromatosis type 2-related schwannomatosis.
Madhani AS et al.
Brain Communications, 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
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF2
Analysis of induced pluripotent stem cell clones derived from a patient with mosaic neurofibromatosis type 2.
Ishi Y et al.
American Journal of Medical Genetics. Part A, 2022
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
Pemov A et al.
Scientific Reports, 2020
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C et al.
Neuro-oncology, 2018
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini E et al.
Plos One, 2015
Application of COLD-PCR for improved detection of NF2 mosaic mutations.
Paganini I et al.
The Journal of Molecular Diagnostics : Jmd, 2014
[Nonsense mutation 193C>T of neurofibromatosis type 2--a neurosurgical challenge].
Bobest M et al.
Ideggyogyaszati Szemle, 2007
Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.
Kim JH et al.
International Journal of Molecular Medicine, 2006
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
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.
Kluwe L et al.
Journal of Medical Genetics, 2003
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