Associated Papers
Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.
Douwes JPJ et al.
Cancers, 2025
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.
Chen X et al.
Journal of Human Genetics, 2023
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
Evans DG et al.
Journal of Medical Genetics, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 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
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.
Teranishi Y et al.
Scientific Reports, 2022
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y et al.
Journal of Medical Genetics, 2021
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Alterations in BAP1 Are Associated with Cisplatin Resistance through Inhibition of Apoptosis in Malignant Pleural Mesothelioma.
Oehl K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
The Prognostic Value of Methylation Signatures and NF2 Mutations in Atypical Meningiomas.
Meta R et al.
Cancers, 2021
Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.
Mortazavipour MM et al.
Hemoglobin, 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
CPI-17 Overexpression and Its Correlation With the NF2 Mutation Spectrum in Sporadic Vestibular Schwannomas.
Xu J et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.
Chen H et al.
Scientific Reports, 2017
Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2 patients with growing vestibular schwannomas.
Goutagny S et al.
Journal of Neuro-oncology, 2015
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
Sheffield BS et al.
Plos One, 2015
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
In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila.
Gavilan HS et al.
Plos One, 2014
CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas.
Kullar PJ et al.
Neuropathology and Applied Neurobiology, 2010
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.
Grant EA et al.
Ophthalmic Genetics, 2008
[Phenotype-genotype study in 154 French NF2 mutation carriers].
Demange L et al.
Revue Neurologique, 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
Molecular genetic analysis of ependymal tumors. NF2 mutations and chromosome 22q loss occur preferentially in intramedullary spinal ependymomas.
Ebert C et al.
The American Journal of Pathology, 1999
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
Defects in neurofibromatosis 2 protein function can arise at multiple levels.
Gutmann DH et al.
Human Molecular Genetics, 1998
Molecular genetic analysis of giant cell glioblastomas.
Meyer-Puttlitz B et al.
The American Journal of Pathology, 1997
Frequency and distribution of NF2 mutations in schwannomas.
Jacoby LB et al.
Genes, Chromosomes & Cancer, 1996
Exon scanning for mutation of the NF2 gene in schwannomas.
Jacoby LB et al.
Human Molecular Genetics, 1994
Withdrawal of bevacizumab is associated with rebound growth of vestibular schwannomas in neurofibromatosis type 2-related schwannomatosis patients.
Webb MJ et al.
Neuro-oncology Advances, 0