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Journal Abstract Search


378 related items for PubMed ID: 32575496

  • 1. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
    Bianchessi D, Ibba MC, Saletti V, Blasa S, Langella T, Paterra R, Cagnoli GA, Melloni G, Scuvera G, Natacci F, Cesaretti C, Finocchiaro G, Eoli M.
    Genes (Basel); 2020 Jun 19; 11(6):. PubMed ID: 32575496
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  • 4. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.
    Witkowski L, Dillon MW, Murphy E, S Lebo M, Mason-Suares H.
    Mol Genet Genomic Med; 2020 Apr 19; 8(4):e1180. PubMed ID: 32107864
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  • 6. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
    Evans DGR, Salvador H, Chang VY, Erez A, Voss SD, Druker H, Scott HS, Tabori U.
    Clin Cancer Res; 2017 Jun 15; 23(12):e54-e61. PubMed ID: 28620005
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  • 10. Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
    Kehrer-Sawatzki H, Kluwe L, Friedrich RE, Summerer A, Schäfer E, Wahlländer U, Matthies C, Gugel I, Farschtschi S, Hagel C, Cooper DN, Mautner VF.
    Hum Genet; 2018 Jul 15; 137(6-7):543-552. PubMed ID: 30006736
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  • 11. NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
    Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N, Lavin T, Halliday J, King AT, Rutherford S, Pathmanaban ON, Lloyd S, Freeman S, Halliday D, Parry A, Axon P, Buttimore J, Afridi S, Obholzer R, Laitt R, Thomas O, Stivaros SM, Vassallo G, Evans DG.
    J Med Genet; 2024 Aug 29; 61(9):856-860. PubMed ID: 38925914
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  • 16. Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
    Wu-Chou YH, Hung TC, Lin YT, Cheng HW, Lin JL, Lin CH, Yu CC, Chen KT, Yeh TH, Chen YR.
    J Biomed Sci; 2018 Oct 05; 25(1):72. PubMed ID: 30290804
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  • 17. Schwannomatosis: a genetic and epidemiological study.
    Evans DG, Bowers NL, Tobi S, Hartley C, Wallace AJ, King AT, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Freeman SR, Ealing J, Kellett M, Laitt R, Thomas O, Halliday D, Ferner R, Taylor A, Duff C, Harkness EF, Smith MJ.
    J Neurol Neurosurg Psychiatry; 2018 Nov 05; 89(11):1215-1219. PubMed ID: 29909380
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  • 19. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
    Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, Lloyd SK, Rutherford SA, Hammerbeck-Ward CL, Freeman SR, Evans DG.
    Neurology; 2017 Jan 03; 88(1):87-92. PubMed ID: 27856782
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