Associated Papers
Management Strategies of Neurofibromatosis Type 2 in Pediatric Patients : Challenges and Emerging Therapies.
Lee JS
Journal of Korean Neurosurgical Society, 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
A rare case of primary central nervous system histiocytic sarcoma harboring a novel ARHGAP45::BRAF fusion: a case report and literature review.
Zhang L et al.
Brain Tumor Pathology, 2024
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 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
Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Oishi N et al.
Scientific Reports, 2023
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.
Alba-Pavón P et al.
Scientific Reports, 2023
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Clinical and molecular validation of BAP1, MTAP, P53, and Merlin immunohistochemistry in diagnosis of pleural mesothelioma.
Chapel DB et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
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
KRAS signaling in malignant pleural mesothelioma.
Marazioti A et al.
Embo Molecular Medicine, 2022
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
Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.
Quetel L et al.
Molecular Oncology, 2020
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
Age-dependent copy number variations of TP53 tumour suppressor gene associated with altered phosphorylation status of p53 protein in sporadic schwannomas.
Chen H et al.
Journal of Neuro-oncology, 2019
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C et al.
Neuro-oncology, 2018
Differential NF2 Gene Status in Sporadic Vestibular Schwannomas and its Prognostic Impact on Tumour Growth Patterns.
Chen H et al.
Scientific Reports, 2017
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Caltabiano R et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2017
Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation.
Bonne N- et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2016
Characterization of Clinical Cases of Collecting Duct Carcinoma of the Kidney Assessed by Comprehensive Genomic Profiling.
Pal SK et al.
European Urology, 2016
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
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
Riant F et al.
Molecular Syndromology, 2013
[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
Familial schwannomatosis: exclusion of the NF2 locus as the germline event.
MacCollin M et al.
Neurology, 2003
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring.
Moyhuddin A et al.
Journal of Medical Genetics, 2003
Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms.
Heinrich B et al.
International Journal of Cancer, 2003
Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.
Hagel C et al.
Acta Neuropathologica, 2002
Allelic losses in neurofibromatosis 2-associated meningiomas.
Lamszus K et al.
Journal of Neuropathology and Experimental Neurology, 2000
Mosaicism in sporadic neurofibromatosis 2 patients.
Kluwe L et al.
Human Molecular Genetics, 1998
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
Primary central nervous system histiocytic sarcoma with somatic NF2 mutation: Case report and review of literature.
Wang W et al.
Clinical Neuropathology, 0