메뉴 건너뛰기




Volumn 75, Issue 2, 2004, Pages 231-239

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: A population-based study

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 3242661620     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422700     Document Type: Article
Times cited : (122)

References (44)
  • 3
    • 0036119999 scopus 로고    scopus 로고
    • Predictors of vestibular schwannoma growth in patients with neurofibromatosis type 2
    • Baser ME, Makariou EV, Parry DM (2002b) Predictors of vestibular schwannoma growth in patients with neurofibromatosis type 2. J Neurosurg 96:217-222
    • (2002) J Neurosurg , vol.96 , pp. 217-222
    • Baser, M.E.1    Makariou, E.V.2    Parry, D.M.3
  • 4
    • 0035252636 scopus 로고    scopus 로고
    • High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
    • Bruder CEG, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, et al (2001) High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 10:271-282
    • (2001) Hum Mol Genet , vol.10 , pp. 271-282
    • Bruder, C.E.G.1    Hirvela, C.2    Tapia-Paez, I.3    Fransson, I.4    Segraves, R.5    Hamilton, G.6    Zhang, X.X.7
  • 5
    • 0032956279 scopus 로고    scopus 로고
    • Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: Possible location of a neurofibromatosis type 2 modifier gene?
    • Bruder CEG, Ichimura K, Blennow E, Ikeuchi T, Yamaguchi T, Yuasa Y, Collins VP, Dumanski JP (1999) Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible location of a neurofibromatosis type 2 modifier gene? Genes Chromosomes Cancer 25:184-190
    • (1999) Genes Chromosomes Cancer , vol.25 , pp. 184-190
    • Bruder, C.E.G.1    Ichimura, K.2    Blennow, E.3    Ikeuchi, T.4    Yamaguchi, T.5    Yuasa, Y.6    Collins, V.P.7    Dumanski, J.P.8
  • 6
    • 0032730964 scopus 로고    scopus 로고
    • Paediatric presentation of type 2 neurofibromatosis
    • Evans DGR, Birch JM, Ramsden RT (1999) Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 81:496-499
    • (1999) Arch Dis Child , vol.81 , pp. 496-499
    • Evans, D.G.R.1    Birch, J.M.2    Ramsden, R.T.3
  • 8
    • 11944267671 scopus 로고
    • A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
    • Evans DGR, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992b) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 29:841-846
    • (1992) J Med Genet , vol.29 , pp. 841-846
    • Evans, D.G.R.1    Huson, S.M.2    Donnai, D.3    Neary, W.4    Blair, V.5    Teare, D.6    Newton, V.7    Strachan, T.8    Ramsden, R.9    Harris, R.10
  • 9
    • 0031799509 scopus 로고    scopus 로고
    • Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations
    • Evans DGR, Trueman L, Wallace A, Collins S, Strachan T (1998a) Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 35:450-455
    • (1998) J Med Genet , vol.35 , pp. 450-455
    • Evans, D.G.R.1    Trueman, L.2    Wallace, A.3    Collins, S.4    Strachan, T.5
  • 10
    • 0032231683 scopus 로고    scopus 로고
    • Somatic mosaicism: A common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis
    • Evans DGR, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T (1998b) Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet 63:727-736
    • (1998) Am J Hum Genet , vol.63 , pp. 727-736
    • Evans, D.G.R.1    Wallace, A.J.2    Wu, C.L.3    Trueman, L.4    Ramsden, R.T.5    Strachan, T.6
  • 11
    • 84944358578 scopus 로고
    • Bilateral acoustic neuromas: A clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members
    • Gardner WJ, Frazier CH (1930) Bilateral acoustic neuromas: a clinical study and field survey of a family of five generations with bilateral deafness in thirty-eight members. Arch Neurol Psychiatr 23:266-302
    • (1930) Arch Neurol Psychiatr , vol.23 , pp. 266-302
    • Gardner, W.J.1    Frazier, C.H.2
  • 15
    • 0030025114 scopus 로고    scopus 로고
    • A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2
    • Kluwe L, Mautner V-F (1996) A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. Hum Genet 97:224-227
    • (1996) Hum Genet , vol.97 , pp. 224-227
    • Kluwe, L.1    Mautner, V.-F.2
  • 16
    • 0031788776 scopus 로고    scopus 로고
    • Mosaicism in sporadic neurofibromatosis 2 patients
    • - (1998) Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet 7:2051-2055
    • (1998) Hum Mol Genet , vol.7 , pp. 2051-2055
  • 17
    • 0037323824 scopus 로고    scopus 로고
    • Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
    • Kluwe L, Mautner V-F, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M (2003) Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40:109-114
    • (2003) J Med Genet , vol.40 , pp. 109-114
    • Kluwe, L.1    Mautner, V.-F.2    Heinrich, B.3    Dezube, R.4    Jacoby, L.B.5    Friedrich, R.E.6    MacCollin, M.7
  • 18
    • 0014471504 scopus 로고
    • Familial central nervous system neoplasia: Case report of a family with von Recklinghausen's neurofibromatosis
    • Lee DK, Abbott ML (1969) Familial central nervous system neoplasia: case report of a family with von Recklinghausen's neurofibromatosis. Arch Neurol 20:154-160
    • (1969) Arch Neurol , vol.20 , pp. 154-160
    • Lee, D.K.1    Abbott, M.L.2
  • 20
    • 0032421712 scopus 로고    scopus 로고
    • The diagnosis and management of neurofibromatosis 2 in childhood
    • MacCollin M, Mautner V-F (1998) The diagnosis and management of neurofibromatosis 2 in childhood. Semin Pediatr Neurol 5:243-252
    • (1998) Semin Pediatr Neurol , vol.5 , pp. 243-252
    • MacCollin, M.1    Mautner, V.-F.2
  • 21
    • 0030012984 scopus 로고    scopus 로고
    • Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations
    • Mautner V-F, Baser ME, Kluwe L (1996a) Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations. Hum Genet 98:203-206
    • (1996) Hum Genet , vol.98 , pp. 203-206
    • Mautner, V.-F.1    Baser, M.E.2    Kluwe, L.3
  • 29
    • 0242708725 scopus 로고    scopus 로고
    • Neurofibromatosis 2 in the pediatric population
    • Nunes F, MacCollin M (2003) Neurofibromatosis 2 in the pediatric population. J Child Neurol 18:718-724
    • (2003) J Child Neurol , vol.18 , pp. 718-724
    • Nunes, F.1    MacCollin, M.2
  • 30
    • 0042421988 scopus 로고    scopus 로고
    • Age at symptom onset and long-term survival in patients with neurofibromatosis type 2
    • Otsuka G, Saito K, Nagatani T, Yoshida J (2003) Age at symptom onset and long-term survival in patients with neurofibromatosis type 2. J Neurosurg 99:480-483
    • (2003) J Neurosurg , vol.99 , pp. 480-483
    • Otsuka, G.1    Saito, K.2    Nagatani, T.3    Yoshida, J.4
  • 31
    • 0027937181 scopus 로고
    • Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
    • Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas E, Pikus A, Patronas N (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52:450-461
    • (1994) Am J Med Genet , vol.52 , pp. 450-461
    • Parry, D.M.1    Eldridge, R.2    Kaiser-Kupfer, M.I.3    Bouzas, E.4    Pikus, A.5    Patronas, N.6
  • 33
    • 0035142218 scopus 로고    scopus 로고
    • Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype
    • Patronas NJ, Courcoutsakis N, Bromley CM, Katzman GL, MacCollin M, Parry DM (2001) Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology 218:434-442
    • (2001) Radiology , vol.218 , pp. 434-442
    • Patronas, N.J.1    Courcoutsakis, N.2    Bromley, C.M.3    Katzman, G.L.4    MacCollin, M.5    Parry, D.M.6
  • 36
    • 0036295832 scopus 로고    scopus 로고
    • Effects of NF2 missense mutations on schwannomin interactions
    • Scoles D, Chen M, Pulst S-M (2002) Effects of NF2 missense mutations on schwannomin interactions. Biochem Biophys Res Commun 290:366-374
    • (2002) Biochem Biophys Res Commun , vol.290 , pp. 366-374
    • Scoles, D.1    Chen, M.2    Pulst, S.-M.3
  • 37
    • 0029831658 scopus 로고    scopus 로고
    • A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes
    • Scoles DR, Baser ME, Pulst S-M (1996) A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology 47:544-546
    • (1996) Neurology , vol.47 , pp. 544-546
    • Scoles, D.R.1    Baser, M.E.2    Pulst, S.-M.3
  • 40
    • 0032809268 scopus 로고    scopus 로고
    • Meta-PCR: A novel method for creating chimaeric DNA molecules and increasing the productivity of mutation screening techniques
    • Wallace AJ, Wu C-L, Elles RG (1999) Meta-PCR: a novel method for creating chimaeric DNA molecules and increasing the productivity of mutation screening techniques. Genetic Testing 3:173-183
    • (1999) Genetic Testing , vol.3 , pp. 173-183
    • Wallace, A.J.1    Wu, C.-L.2    Elles, R.G.3
  • 41
    • 0001594018 scopus 로고
    • Case of tumours in the skull, dura mater, and brain
    • Wishart JH (1822) Case of tumours in the skull, dura mater, and brain. Edinburgh Med Surg J 18:393-397
    • (1822) Edinburgh Med Surg J , vol.18 , pp. 393-397
    • Wishart, J.H.1
  • 42
    • 0030016279 scopus 로고    scopus 로고
    • Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
    • Yau SC, Bobrow M, Mathew CG, Abbs SJ (1996) Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558
    • (1996) J Med Genet , vol.33 , pp. 550-558
    • Yau, S.C.1    Bobrow, M.2    Mathew, C.G.3    Abbs, S.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.