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References from Germline-Somatic Interplay Shapes Molecular Divergence in Peripheral Nerve Sheath Tumors. Local targets link to admitted publications; unresolved targets remain external evidence.
Neurofibromatosis: Molecular Pathogenesis and Natural Compounds as Potential Treatments
10.3389/fonc.2021.698192 · 2021 · External reference
Prevalence of neurofibromatosis type 1 in the Finnish population
10.1038/gim.2017.215 · 2018 · External reference
Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service
10.1002/ajmg.a.33139 · 2010 · External reference
Outcomes of Treatment for Malignant Peripheral Nerve Sheath Tumors: Different Clinical Features Associated with Neurofibromatosis Type 1
10.4143/crt.2016.271 · 2017 · External reference
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer
10.1016/j.semcdb.2016.02.007 · 2016 · External reference
Neurofibromin Structure, Functions and Regulation
10.3390/cells9112365 · 2020 · External reference
Unresolved reference
External reference
Goblet Cell Carcinoid of the Rectum in a Patient with Neurofibromatosis Type 1
10.4132/jptm.2016.02.27 · 2016 · External reference
Integrated genomic analysis of NF1-associated peripheral nerve sheath tumors: an updated biorepository dataset
10.1038/s41597-025-05433-7 · 2025 · External reference
Management of cutaneous neurofibroma: current therapy and future directions
2020 · External reference
Selumetinib benefits children with inoperable plexiform neurofibromas
10.1038/s41571-020-0361-7 · 2020 · External reference
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
10.1136/jmg.39.5.311 · 2002 · External reference
Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies
10.1155/2017/7429697 · 2017 · External reference
The Need for New Treatments Targeting MPNST: The Potential of Strategies Combining MEK Inhibitors with Antiangiogenic Agents
10.1158/1078-0432.ccr-21-3760 · 2022 · External reference
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use
2021 · External reference
Neurofibromin and suppression of tumorigenesis: beyond the GAP
10.1038/s41388-021-02156-y · 2022 · External reference
The therapeutic potential of neurofibromin signaling pathways and binding partners
10.1038/s42003-023-04815-0 · 2023 · External reference
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
10.1038/s41436-021-01170-5 · 2021 · External reference
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
10.1002/1098-1004(200006)15:6<541::aid-humu6>3.0.co;2-n · 2000 · External reference
Identification of Germinal Neurofibromin Hotspots
10.3390/biomedicines10082044 · 2022 · External reference
Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1
10.1038/s41588-025-02097-2 · 2025 · External reference
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview
10.1016/j.humpath.2017.05.010 · 2017 · External reference
Unresolved reference
External reference
Malignant peripheral nerve sheath tumor (MPNST) arising in diffuse-type neurofibroma: clinicopathologic characterization in a series of 9 cases
10.1097/pas.0000000000000447 · 2015 · External reference
Histopathological variants of neurofibroma. A study of 114 lesions
10.1097/00000372-199410000-00003 · 1994 · External reference
Defining RASopathy
10.1242/dmm.049344 · 2022 · External reference
Splicing mutations in human genetic disorders: examples, detection, and confirmation
10.1007/s13353-018-0444-7 · 2018 · External reference
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations
10.1002/humu.20826 · 2008 · External reference
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants
10.3390/genes12091308 · 2021 · External reference
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
10.1002/humu.21271 · 2010 · External reference
Emerging genotype-phenotype relationships in patients with large NF1 deletions
10.1007/s00439-017-1766-y · 2017 · External reference
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
10.1002/humu.21418 · 2011 · External reference
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
10.1136/jmg.2009.075937 · 2010 · External reference
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
10.1038/s41431-020-00743-3 · 2021 · External reference
Serine 392 phosphorylation modulates p53 mitochondrial translocation and transcription-independent apoptosis
10.1038/cdd.2017.143 · 2018 · External reference
Ser392 phosphorylation modulated a switch between p53 and transcriptional condensates
10.1016/j.bbagrm.2022.194827 · 2022 · External reference
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas
10.1093/neuonc/noz028 · 2019 · External reference
The RASopathies
10.1146/annurev-genom-091212-153523 · 2013 · External reference
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations
10.1038/s41467-025-57077-1 · 2025 · External reference
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1
10.1093/neuonc/noae235 · 2025 · External reference
