메뉴 건너뛰기




Volumn 114, Issue 3, 1996, Pages 318-322

Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCEIN;

EID: 0029918889     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.1996.01100130314016     Document Type: Article
Times cited : (12)

References (20)
  • 2
    • 0018308163 scopus 로고
    • Dominant retinitis pigmentosa with reduced penetrance: Further studies of the electroretinogram
    • Berson EL, Simonoff EA. Dominant retinitis pigmentosa with reduced penetrance: further studies of the electroretinogram. Arch Ophthalmol 1979,97. 1286-1291
    • (1979) Arch Ophthalmol , vol.97 , pp. 1286-1291
    • Berson, E.L.1    Simonoff, E.A.2
  • 3
    • 85004978892 scopus 로고
    • Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance
    • Moore AT, Ernst W, Jay M, Arden GB, Bird AC. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance. Invest Ophthalmol Vis Sci. 1987;28(suppl):112
    • (1987) Invest Ophthalmol Vis Sci , vol.28 , Issue.SUPPL. , pp. 112
    • Moore, A.T.1    Ernst, W.2    Jay, M.3    Arden, G.B.4    Bird, A.C.5
  • 4
    • 84901970287 scopus 로고
    • Heterogeneity, anomalous adaption and incomplete penetrance in autosomal dominant retinitis pigmentosa
    • Ernst W, Moore AT. Heterogeneity, anomalous adaption and incomplete penetrance in autosomal dominant retinitis pigmentosa. Adv Biosci 1987;62:115-120.
    • (1987) Adv Biosci , vol.62 , pp. 115-120
    • Ernst, W.1    Moore, A.T.2
  • 5
    • 0027092566 scopus 로고
    • Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records
    • Jay M, Jay B, Moore AT, Bird AC Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. J Med Genet 1992;29.906-910.
    • (1992) J Med Genet , vol.29 , pp. 906-910
    • Jay, M.1    Jay, B.2    Moore, A.T.3    Bird, A.C.4
  • 6
    • 0027260399 scopus 로고
    • Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: A clinical, electrophysiological, psychophysical, and molecular genetic study
    • Moore AT, Fitzke F, Jay M, et al. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol 1993;77:473-479.
    • (1993) Br J Ophthalmol , vol.77 , pp. 473-479
    • Moore, A.T.1    Fitzke, F.2    Jay, M.3
  • 7
    • 0028123295 scopus 로고
    • Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
    • Al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 1994;3:351-354.
    • (1994) Hum Mol Genet , vol.3 , pp. 351-354
    • Al-Maghtheh, M.1    Inglehearn, C.F.2    Keen, T.J.3
  • 8
    • 0028788974 scopus 로고
    • Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family
    • Xu S Nakazawa M, Tamai M, Gal A Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family. J Med Genet. 1995,32:915-916.
    • (1995) J Med Genet , vol.32 , pp. 915-916
    • Xu, S.1    Nakazawa, M.2    Tamai, M.3    Gal, A.4
  • 9
    • 0028073101 scopus 로고
    • Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene
    • Nakazawa M, Kikawa E, Kamio K, Chida Y, Shiono T, Tamai M. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene Arch Ophthalmol. 1994;112:1567-1573.
    • (1994) Arch Ophthalmol , vol.112 , pp. 1567-1573
    • Nakazawa, M.1    Kikawa, E.2    Kamio, K.3    Chida, Y.4    Shiono, T.5    Tamai, M.6
  • 10
    • 0001669628 scopus 로고
    • Nonradioactive single strand conformation polymorphism (PCR-SSCP). A simplified method applied to a molecular genetic screening of retinitis pigmentosa
    • Hollyfield JG, La-Vail MM, Anderson RE, eds New York, NY: Plenum Publishing Corp
    • Nakazawa M, Kikawa E, Chida Y, Shiono T, Tamai M Nonradioactive single strand conformation polymorphism (PCR-SSCP). a simplified method applied to a molecular genetic screening of retinitis pigmentosa. In: Hollyfield JG, La-Vail MM, Anderson RE, eds Retinal Degeneration: Clinical and Laboratory Applications. New York, NY: Plenum Publishing Corp; 1993:181-188.
    • (1993) Retinal Degeneration: Clinical and Laboratory Applications , pp. 181-188
    • Nakazawa, M.1    Kikawa, E.2    Chida, Y.3    Shiono, T.4    Tamai, M.5
  • 11
    • 0028181667 scopus 로고
    • A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP
    • Kikawa E, Nakazawa M, Chida Y, Shiono T, Tamai M. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP Genomics. 1994;20:137-139
    • (1994) Genomics , vol.20 , pp. 137-139
    • Kikawa, E.1    Nakazawa, M.2    Chida, Y.3    Shiono, T.4    Tamai, M.5
  • 12
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TG, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343.364-366.
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.G.1    McGee, T.L.2    Reichel, E.3
  • 13
    • 0025721075 scopus 로고
    • A three base pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
    • Farrar GJ, Jordan SA, Kenna P, et al. A three base pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991,354:478-480
    • (1991) Nature , vol.354 , pp. 478-480
    • Farrar, G.J.1    Jordan, S.A.2    Kenna, P.3
  • 14
    • 0025720710 scopus 로고
    • Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara K, Hahn LB, Mukai S, et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991, 354:480-483.
    • (1991) Nature , vol.354 , pp. 480-483
    • Kajiwara, K.1    Hahn, L.B.2    Mukai, S.3
  • 15
    • 0027309259 scopus 로고
    • A new locus for autosomal dominant retinitis peigmentosa (adRP) on chromosome 7p
    • Inglehearn CF, Carter SA, Keen TJ, et al. A new locus for autosomal dominant retinitis peigmentosa (adRP) on chromosome 7p. War Genet 1993;4:51-53.
    • (1993) War Genet , vol.4 , pp. 51-53
    • Inglehearn, C.F.1    Carter, S.A.2    Keen, T.J.3
  • 16
    • 0027155177 scopus 로고
    • Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q
    • Jordan SA, Farrar GJ, Kenna P, et al Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet. 1993;4:54-58
    • (1993) Nat Genet , vol.4 , pp. 54-58
    • Jordan, S.A.1    Farrar, G.J.2    Kenna, P.3
  • 17
    • 0028831395 scopus 로고
    • Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: Linkage mapping in a second, unrelated family
    • McGuire RE, Gannon AM, Sullivan LS, Rodriguez JA, Daiger SP Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family Hum Genet. 1995; 95:71-74
    • (1995) Hum Genet , vol.95 , pp. 71-74
    • McGuire, R.E.1    Gannon, A.M.2    Sullivan, L.S.3    Rodriguez, J.A.4    Daiger, S.P.5
  • 18
    • 0026347736 scopus 로고
    • Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
    • Blanton SH, Heckenlively JR, Cottingham AW et al Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991;11:857-869
    • (1991) Genomics , vol.11 , pp. 857-869
    • Blanton, S.H.1    Heckenlively, J.R.2    Cottingham, A.W.3
  • 19
    • 0028363788 scopus 로고
    • A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17
    • Greenberg J, Goliath R, Beighton P, Ramesar R A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet. 1994,3.915-918.
    • (1994) Hum Mol Genet , vol.3 , pp. 915-918
    • Greenberg, J.1    Goliath, R.2    Beighton, P.3    Ramesar, R.4
  • 20
    • 0028918439 scopus 로고
    • Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression
    • Kim RY, Fitzke FW, Moore AT, et al Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression Br J Ophthalmol 1995;79 23-27.
    • (1995) Br J Ophthalmol , vol.79 , pp. 23-27
    • Kim, R.Y.1    Fitzke, F.W.2    Moore, A.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.