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Volumn 64, Issue 4, 1996, Pages 563-567

Phenotypic Variability in Monozygotic Twins with Neurofibromatosis 2

Author keywords

Neurofibromatosis 2; genes; Suppressor; Tumor; twins; phenotype

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN TUMOR; CASE REPORT; CATARACT; CHROMOSOME 22Q; FEMALE; GENE MUTATION; HUMAN; MALE; MONOZYGOTIC TWINS; NEURILEMOMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; SCHOOL CHILD; TUMOR SUPPRESSOR GENE; VESTIBULAR DISORDER;

EID: 0029795562     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960906)64:4<563::AID-AJMG7>3.0.CO;2-Q     Document Type: Article
Times cited : (38)

References (42)
  • 2
    • 0027963492 scopus 로고
    • A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
    • Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T (1994a): A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55:69-73.
    • (1994) Am J Hum Genet , vol.55 , pp. 69-73
    • Bourn, D.1    Carter, S.A.2    Evans, D.G.R.3    Goodship, J.4    Coakham, H.5    Strachan, T.6
  • 3
    • 0028226739 scopus 로고
    • Germline mutations in the neurofibromatosis 2 gene in multiple tumor types
    • Bourn D, Carter SA, Mason S, Evans DGR, Strachan T (1994b): Germline mutations in the neurofibromatosis 2 gene in multiple tumor types. Hum Mol Genet 3:813-816.
    • (1994) Hum Mol Genet , vol.3 , pp. 813-816
    • Bourn, D.1    Carter, S.A.2    Mason, S.3    Evans, D.G.R.4    Strachan, T.5
  • 7
    • 0028009140 scopus 로고
    • National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991
    • Consensus Development Panel (CDP) (1994): National Institutes of Health Consensus Development Conference Statement on Acoustic Neuroma, December 11-13, 1991. Arch Neurol 51:201-207.
    • (1994) Arch Neurol , vol.51 , pp. 201-207
  • 9
    • 0027379865 scopus 로고
    • An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes
    • Easton DF, Ponder MA, Huson SM, Ponder BAJ (1993): An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 53:305-313.
    • (1993) Am J Hum Genet , vol.53 , pp. 305-313
    • Easton, D.F.1    Ponder, M.A.2    Huson, S.M.3    Ponder, B.A.J.4
  • 10
    • 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 (1992a): 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
  • 12
    • 2542544484 scopus 로고
    • Eleventh International Conference on Human Gene Mapping, London, U.K., August 18-22, 1991
    • Human Gene Mapping 11
    • Human Gene Mapping 11 (1991): Eleventh International Conference on Human Gene Mapping, London, U.K., August 18-22, 1991. Cytogenet Cell Genet 58:1864-1865.
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 1864-1865
  • 14
    • 0018274512 scopus 로고
    • Evidence of a maternal effect in central neurofibromatosis
    • Kanter WR, Eldridge R (1978): Evidence of a maternal effect in central neurofibromatosis. Lancet 2:903.
    • (1978) Lancet , vol.2 , pp. 903
    • Kanter, W.R.1    Eldridge, R.2
  • 15
    • 0018821706 scopus 로고
    • Central neurofibromatosis with bilateral acoustic neuroma: Genetic, clinical and biochemical distinction from peripheral neurofibromatosis
    • Kanter WR, Eldridge R, Fabricant R, Allen JC, Koerber T (1980): Central neurofibromatosis with bilateral acoustic neuroma: Genetic, clinical and biochemical distinction from peripheral neurofibromatosis. Neurology 30:851-859.
    • (1980) Neurology , vol.30 , pp. 851-859
    • Kanter, W.R.1    Eldridge, R.2    Fabricant, R.3    Allen, J.C.4    Koerber, T.5
  • 17
    • 0028945983 scopus 로고
    • A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2
    • Kluwe L, Pulst SM, Kop̈pen J, Mautner VF (1995): A 163-bp deletion at the C-terminus of the schwannomin gene associated with variable phenotypes of neurofibromatosis type 2. Hum Genet 95: 443-446.
    • (1995) Hum Genet , vol.95 , pp. 443-446
    • Kluwe, L.1    Pulst, S.M.2    Kop̈pen, J.3    Mautner, V.F.4
  • 19
    • 0028031046 scopus 로고
    • Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
    • Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B (1994): Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma. Hum Genet 94:349-354.
    • (1994) Hum Genet , vol.94 , pp. 349-354
    • Lohmann, D.R.1    Brandt, B.2    Hopping, W.3    Passarge, E.4    Horsthemke, B.5
  • 21
    • 0026651826 scopus 로고
    • Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients
    • Nagase H, Miyoshi Y, Horii A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y (1993): Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res 52:4055-4057.
    • (1993) Cancer Res , vol.52 , pp. 4055-4057
    • Nagase, H.1    Miyoshi, Y.2    Horii, A.3    Aoki, T.4    Ogawa, M.5    Utsunomiya, J.6    Baba, S.7    Sasazuki, T.8    Nakamura, Y.9
  • 22
    • 0027769633 scopus 로고
    • Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
    • Olschwang S, Tiret A, Laurent-Pulg P, Muleris M, Pare R, Thomas G (1993): Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959-968.
    • (1993) Cell , vol.75 , pp. 959-968
    • Olschwang, S.1    Tiret, A.2    Laurent-Pulg, P.3    Muleris, M.4    Pare, R.5    Thomas, G.6
  • 23
    • 0026721945 scopus 로고
    • Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype
    • USA
    • Onadim Z, Hogg A, Baird PN, Cowell JK (1992): Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype. Proc Natl Acad Sci (USA) 89:6177-6181.
    • (1992) Proc Natl Acad Sci , vol.89 , pp. 6177-6181
    • Onadim, Z.1    Hogg, A.2    Baird, P.N.3    Cowell, J.K.4
  • 24
    • 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 EA, 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.A.4    Pikus, A.5    Patronas, N.6
  • 25
    • 0026409039 scopus 로고
    • Neurofibromatosis 2 (bilateral acoustic or central neurofibromatosis), a treatable cause of deafness
    • Parry DM, Kaiser-Kupfer MI, Sherman JL, Pikus A, Eldridge R (1991): Neurofibromatosis 2 (bilateral acoustic or central neurofibromatosis), a treatable cause of deafness. Ann NY Acad Sci 630: 305-307.
    • (1991) Ann NY Acad Sci , vol.630 , pp. 305-307
    • Parry, D.M.1    Kaiser-Kupfer, M.I.2    Sherman, J.L.3    Pikus, A.4    Eldridge, R.5
  • 26
    • 0025821074 scopus 로고
    • Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH)
    • Polymeropoulos MH, Xiao H, Rath DS, Merril CR (1991a): Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH). Nucleic Acids Res 19:3753.
    • (1991) Nucleic Acids Res , vol.19 , pp. 3753
    • Polymeropoulos, M.H.1    Xiao, H.2    Rath, D.S.3    Merril, C.R.4
  • 27
    • 0026035246 scopus 로고
    • Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19)
    • Polymeropoulos MH, Xiao H, Rath DS, Merril CR (1991b): Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19). Nucleic Acids Res 19:4018.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4018
    • Polymeropoulos, M.H.1    Xiao, H.2    Rath, D.S.3    Merril, C.R.4
  • 29
    • 0027427198 scopus 로고
    • Genotype, malleotype, phenotype, and randomness: Lessons from neurofibromatosis-1 (NF-1)
    • Riccardi VM (1993): Genotype, malleotype, phenotype, and randomness: Lessons from neurofibromatosis-1 (NF-1). Am J Hum Genet 53:301-304.
    • (1993) Am J Hum Genet , vol.53 , pp. 301-304
    • Riccardi, V.M.1
  • 31
    • 0025900744 scopus 로고
    • Oncogenic germ-line mutations in SP1 and ATF sites in the human retinoblastoma gene
    • Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP (1991): Oncogenic germ-line mutations in SP1 and ATF sites in the human retinoblastoma gene. Nature 353:83-86.
    • (1991) Nature , vol.353 , pp. 83-86
    • Sakai, T.1    Ohtani, N.2    McGee, T.L.3    Robbins, P.D.4    Dryja, T.P.5
  • 35
    • 0029831658 scopus 로고    scopus 로고
    • A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes
    • in press
    • Scoles D, Baser ME, Pulst SM (1996): A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology (in press).
    • (1996) Neurology
    • Scoles, D.1    Baser, M.E.2    Pulst, S.M.3
  • 38
    • 0028117866 scopus 로고
    • Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis
    • Wallis YL, Macdonald F, Hultén, Morton JEV, McKeown CM, Neoptolemos JP, Keighley M, Morton DG (1994): Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis. Hum Genet 94:543-548.
    • (1994) Hum Genet , vol.94 , pp. 543-548
    • Wallis, Y.L.1    Macdonald, F.2    Hultén3    Morton, J.E.V.4    McKeown, C.M.5    Neoptolemos, J.P.6    Keighley, M.7    Morton, D.G.8
  • 39
    • 0027173060 scopus 로고
    • A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus
    • Watson CJ, Gaunt L, Evans G, Patel K, Harris R, Strachan T (1993): A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Hum Mol Genet 2:701-704.
    • (1993) Hum Mol Genet , vol.2 , pp. 701-704
    • Watson, C.J.1    Gaunt, L.2    Evans, G.3    Patel, K.4    Harris, R.5    Strachan, T.6
  • 42
    • 85056035353 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.