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American Journal of Human Genetics
Volumn 59, Issue 3, 1996, Pages 529-539
Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
Author keywords

[No Author keywords available]
Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CATARACT; CHILD; CHROMOSOME 22Q; DISEASE SEVERITY; EPIRETINAL MEMBRANE; FEMALE; FRAMESHIFT MUTATION; GERM LINE; HAMARTOMA; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MENINGIOMA; MUTATION; NEURILEMOMA; NEUROFIBROMATOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; RETINA DISEASE; SINGLE STRAND CONFORMATION POLYMORPHISM;
EID: 0029774092     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (203)
References (5)
  • 1
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    • Allen JC, Eldridge R, Young D (1974) Early-onset acoustic neuroma: genetic, clinical and nosologie aspects. Birth Defects 10:171-184
    • (1974) Birth Defects , vol.10 , pp. 171-184
    • Allen, J.C.1    Eldridge, R.2    Young, D.3
  • 2
    • 0021688283 scopus 로고
    • Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines
    • Anderson M, Gusella J (1984) Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 20:856-858
    • (1984) In Vitro , vol.20 , pp. 856-858
    • Anderson, M.1    Gusella, J.2
  • 3
    • 0028286573 scopus 로고
    • Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis 2 (NF2)
    • Arai E, Ikeuchi T, Nakamura Y (1994) Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis 2 (NF2). Hum Mol Genet 6:937-939
    • (1994) Hum Mol Genet , vol.6 , pp. 937-939
    • Arai, E.1    Ikeuchi, T.2    Nakamura, Y.3
  • 4
    • 0029989418 scopus 로고    scopus 로고
    • Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging and ocular examinations
    • in press
    • Baser ME, Mautner VF, Ragge NK, Nechiporuk A, Riccardi VM, Klein J, Sainz J, et al. Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging and ocular examinations. Neurology (in press)
    • Neurology
    • Baser, M.E.1    Mautner, V.F.2    Ragge, N.K.3    Nechiporuk, A.4    Riccardi, V.M.5    Klein, J.6    Sainz, J.7
  • 5
    • 0029043702 scopus 로고
    • Family with neurofibromatosis type 2 and autosomal dominant hearing loss: Identification of carriers of the mutated NF2 gene
    • Bijlsma EK, Merel P, Fleury P, van Asperen CJ, Westerveld A, Delattre O, Thomas G, et al (1995) Family with neurofibromatosis type 2 and autosomal dominant hearing loss: identification of carriers of the mutated NF2 gene. Hum Genet 96:1-5
    • (1995) Hum Genet , vol.96 , pp. 1-5
    • Bijlsma, E.K.1    Merel, P.2    Fleury, P.3    Van Asperen, C.J.4    Westerveld, A.5    Delattre, O.6    Thomas, G.7

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.