메뉴 건너뛰기




Volumn 47, Issue 8, 2008, Pages 399-403

Segmental neurofibromatosis in children. Presentation of 43 patients;Neurofibromatosis segmentaria en niños. Presentación de 43 pacientes

Author keywords

Mosaicism; Neurofibromas; Neurofibromatosis type 1 (NF1); Plexiform neurofibromas; Segmental NF1

Indexed keywords

ADOLESCENT; ARTICLE; BONE DYSPLASIA; CAFE AU LAIT SPOT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HUMAN; MALE; MOSAICISM; NEUROFIBROMA; NEUROFIBROMATOSIS;

EID: 55349144538     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4708.2008419     Document Type: Article
Times cited : (10)

References (20)
  • 2
    • 0035849530 scopus 로고    scopus 로고
    • The clinical and diagnostic implications of mosaicism in the neurofibromatosis
    • Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatosis. Neurology 2001; 56: 1433-43.
    • (2001) Neurology , vol.56 , pp. 1433-1443
    • Ruggieri, M.1    Huson, S.M.2
  • 3
    • 0034080551 scopus 로고    scopus 로고
    • Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
    • Tinschert S, Naumann I, Stegmann E, Boske A, Kaufmann D, Thiel G, et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000; 8: 455-9.
    • (2000) Eur J Hum Genet , vol.8 , pp. 455-459
    • Tinschert, S.1    Naumann, I.2    Stegmann, E.3    Boske, A.4    Kaufmann, D.5    Thiel, G.6
  • 4
    • 0036700983 scopus 로고    scopus 로고
    • Genetics of neurofibromatosis 1 and the NF1 gene
    • Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol 2002; 17: 562-70.
    • (2002) J Child Neurol , vol.17 , pp. 562-570
    • Viskochil, D.1
  • 5
    • 3042833440 scopus 로고    scopus 로고
    • Segmental NF. More common and more variable than the literature suggests?
    • Huson SM, Ruggieri M. Segmental NF. More common and more variable than the literature suggests? Braz J Genet 1996; 19 (Suppl 2): S76.
    • (1996) Braz J Genet , vol.19 , Issue.SUPPL. 2
    • Huson, S.M.1    Ruggieri, M.2
  • 7
    • 0023885121 scopus 로고    scopus 로고
    • National Institutes of Health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol 1988; 45: 575-8.
    • National Institutes of Health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol 1988; 45: 575-8.
  • 8
    • 0000463319 scopus 로고    scopus 로고
    • The neurofibromatoses
    • Harper J, Orange JM, Rose M, eds, Oxford; Blackwell Science Publishers
    • Huson SM, Ruggieri M. The neurofibromatoses. In Harper J, Orange JM, Rose M, eds. Textbook of paediatric dermatology. Oxford; Blackwell Science Publishers: 2006. p. 1345-85.
    • (2006) Textbook of paediatric dermatology , pp. 1345-1385
    • Huson, S.M.1    Ruggieri, M.2
  • 9
    • 55349115981 scopus 로고    scopus 로고
    • Segmental neurofibromatosis (SNF) in children, adolescents and young adults (C-A-YA) [abstract]
    • Rothner MS. Segmental neurofibromatosis (SNF) in children, adolescents and young adults (C-A-YA) [abstract]. Neuropediatrics 2006; 37 (Suppl 1): S192.
    • (2006) Neuropediatrics , vol.37 , Issue.SUPPL. 1
    • Rothner, M.S.1
  • 10
    • 0032774915 scopus 로고    scopus 로고
    • The different forms of neurofibromatosis
    • Ruggieri M. The different forms of neurofibromatosis. Childs Nerv Syst 1999; 15: 295-308.
    • (1999) Childs Nerv Syst , vol.15 , pp. 295-308
    • Ruggieri, M.1
  • 11
    • 33748367450 scopus 로고    scopus 로고
    • Segmental neurofibromatosis: Report of two cases
    • Sezer E, Senayli A, Sezer T, Bicakci U. Segmental neurofibromatosis: report of two cases. J Dermatol 2006; 33: 635-8.
    • (2006) J Dermatol , vol.33 , pp. 635-638
    • Sezer, E.1    Senayli, A.2    Sezer, T.3    Bicakci, U.4
  • 12
    • 33947209719 scopus 로고    scopus 로고
    • Bilateral segmental neurofibromatosis: A case report and review
    • González G, Russie MR, Lodeiros A. Bilateral segmental neurofibromatosis: a case report and review. Pediatr Neurol 2007; 36: 51-3.
    • (2007) Pediatr Neurol , vol.36 , pp. 51-53
    • González, G.1    Russie, M.R.2    Lodeiros, A.3
  • 15
    • 0002556517 scopus 로고
    • Familial transmission of segmental neurofibromatosis [abstract]
    • Rubenstein AE, Bader JL, Aron AA, Wallace S. Familial transmission of segmental neurofibromatosis [abstract]. Neurology 1983; 33 (Suppl 2): S76.
    • (1983) Neurology , vol.33 , Issue.SUPPL. 2
    • Rubenstein, A.E.1    Bader, J.L.2    Aron, A.A.3    Wallace, S.4
  • 18
    • 27144550883 scopus 로고    scopus 로고
    • Gonosoma mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
    • Consoli C, Moss C, Green S, Balderson D, Cooper DN, Upadhyaya M. Gonosoma mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 2005; 125: 463-6.
    • (2005) J Invest Dermatol , vol.125 , pp. 463-466
    • Consoli, C.1    Moss, C.2    Green, S.3    Balderson, D.4    Cooper, D.N.5    Upadhyaya, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.