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Volumn 40, Issue 10, 2003, Pages 758-760

Genotype-phenotype correlations for cataracts in neurofibromatosis 2

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ANALYTIC METHOD; ANAMNESIS; ARTICLE; CATARACT; CELL DIFFERENTIATION; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; LENS EPITHELIUM; LENS FIBER; MAJOR CLINICAL STUDY; MALE; MOSAICISM; NEUROFIBROMATOSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REGISTER; SCREENING; SINGLE STRAND CONFORMATION POLYMORPHISM; SLIT LAMP; STATISTICAL ANALYSIS;

EID: 0142147123     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.10.758     Document Type: Article
Times cited : (13)

References (16)
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    • Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994;52:450-61.
    • (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
  • 7
    • 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. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet 1998;35:450-5.
    • (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
  • 8
    • 0014841634 scopus 로고
    • Multivariate probit analysis
    • Ashford J, Sowden R. Multivariate probit analysis. Biometrics 1970;26:535-46.
    • (1970) Biometrics , vol.26 , pp. 535-546
    • Ashford, J.1    Sowden, R.2
  • 10
    • 0026514839 scopus 로고
    • Prevalence of age-related lens opacities in a population. The Beaver Dam Eye Study
    • Klein BE, Klein R, Linton KL. Prevalence of age-related lens opacities in a population. The Beaver Dam Eye Study. Ophthalmology 1992;99:546-52.
    • (1992) Ophthalmology , vol.99 , pp. 546-552
    • Klein, B.E.1    Klein, R.2    Linton, K.L.3
  • 11
    • 0037323824 scopus 로고    scopus 로고
    • Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
    • Kluwe L, Mautner VF, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M. Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 2003;40:109-14.
    • (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
  • 16
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    • The diagnosis and management of neurofibromatosis 2 in childhood
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    • MacCollin, M.1    Mautner, V.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.