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Journal Abstract Search


230 related items for PubMed ID: 29322178

  • 1. Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
    Castellanos E, Plana A, Carrato C, Carrió M, Rosas I, Amilibia E, Roca-Ribas F, Hostalot C, Castillo A, Ros A, Quer A, Becerra JL, Salvador H, Lázaro C, Blanco I, Serra E, Bielsa I, for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP.
    JAMA Dermatol; 2018 Mar 01; 154(3):341-346. PubMed ID: 29322178
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  • 2. Multiple cutaneous plexiform schwannomas as initial presentation of neurofibromatosis 2 in a 9-year-old.
    Nguyen TV, Matthews MR, Barrera FF, Browning JC.
    Pediatr Dermatol; 2012 Mar 01; 29(4):536-8. PubMed ID: 21906157
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  • 3. Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas.
    Plana-Pla A, García B, Munera-Campos M, Catasus N, Serra Arenas E, Blanco I, Castellanos Perez E, Bielsa I, NF2 Multidisciplinary Clinics HUGTiP-ICO-IGTP.
    J Eur Acad Dermatol Venereol; 2022 Sep 01; 36(9):1632-1640. PubMed ID: 35490384
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  • 5. Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors.
    Kluwe L, Friedrich RE, Hagel C, Lindenau M, Mautner VF.
    J Invest Dermatol; 2000 May 01; 114(5):1017-21. PubMed ID: 10771486
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  • 8. 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 01; 137(6-7):543-552. PubMed ID: 30006736
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  • 9. Neurofibromatosis type 2 in an infant with multiple plexiform schwannomas as first symptom.
    Miyakawa T, Kamada N, Kobayashi T, Hirano K, Fujii K, Sasahara Y, Nagai Y, Shinkai H.
    J Dermatol; 2007 Jan 01; 34(1):60-4. PubMed ID: 17204104
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  • 10. Multiple schwannomas: schwannomatosis or neurofibromatosis type 2?
    Seppälä MT, Sainio MA, Haltia MJ, Kinnunen JJ, Setälä KH, Jääskeläinen JE.
    J Neurosurg; 1998 Jul 01; 89(1):36-41. PubMed ID: 9647170
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  • 11. Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas.
    Hadfield KD, Smith MJ, Urquhart JE, Wallace AJ, Bowers NL, King AT, Rutherford SA, Trump D, Newman WG, Evans DG.
    Oncogene; 2010 Nov 25; 29(47):6216-21. PubMed ID: 20729918
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  • 12. Neurofibromatosis type 2 (NF2): a clinical and molecular review.
    Evans DG.
    Orphanet J Rare Dis; 2009 Jun 19; 4():16. PubMed ID: 19545378
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  • 13. Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2.
    Giovannini M, Robanus-Maandag E, van der Valk M, Niwa-Kawakita M, Abramowski V, Goutebroze L, Woodruff JM, Berns A, Thomas G.
    Genes Dev; 2000 Jul 01; 14(13):1617-30. PubMed ID: 10887156
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  • 14. Neurofibromatosis 2 phenotypes and germ-line NF2 mutations determined by an RNA mismatch method and loss of heterozygosity analysis in NF2 schwannomas.
    Hung G, Faudoa R, Baser ME, Xue Z, Kluwe L, Slattery W, Brackman D, Lim D.
    Cancer Genet Cytogenet; 2000 Apr 15; 118(2):167-8. PubMed ID: 10748301
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  • 15. Multiple unilateral schwannomas: segmental neurofibromatosis type 2 or schwannomatosis?
    Leverkus M, Kluwe L, Röll EM, Becker G, Bröcker EB, Mautner VF, Hamm H.
    Br J Dermatol; 2003 Apr 15; 148(4):804-9. PubMed ID: 12752143
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  • 16. Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution.
    Li P, Zhao F, Zhang J, Wang Z, Wang X, Wang B, Yang Z, Yang J, Gao Z, Liu P.
    J Neurosurg Spine; 2016 Jan 15; 24(1):145-54. PubMed ID: 26407091
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  • 17. The neurofibromatosis type 2 gene is inactivated in schwannomas.
    Twist EC, Ruttledge MH, Rousseau M, Sanson M, Papi L, Merel P, Delattre O, Thomas G, Rouleau GA.
    Hum Mol Genet; 1994 Jan 15; 3(1):147-51. PubMed ID: 8162016
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  • 18. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.
    Evans DG, Mason S, Huson SM, Ponder M, Harding AE, Strachan T.
    J Neurol Neurosurg Psychiatry; 1997 Apr 15; 62(4):361-6. PubMed ID: 9120449
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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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  • 20. Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.
    Ruggieri M, Praticò AD, Evans DG.
    Semin Pediatr Neurol; 2015 Dec 03; 22(4):240-58. PubMed ID: 26706012
    [Abstract] [Full Text] [Related]


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