메뉴 건너뛰기




Volumn 87, Issue 11, 2003, Pages 1413-1420

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CACNA1F GENE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRODIAGNOSIS; ELECTROPHYSIOLOGY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NIGHT VISION; NUCLEOTIDE SEQUENCE; NYX GENE; OSCILLATORY POTENTIAL; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PSYCHOPHYSICS; REVIEW; UNITED KINGDOM; X CHROMOSOME LINKED DISORDER;

EID: 10744222804     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.87.11.1413     Document Type: Review
Times cited : (49)

References (27)
  • 1
    • 77951374758 scopus 로고
    • Beitrag zur Analyse des menschlichen Elektroretinogramms
    • Schubert G, Bornscein H. Beitrag zur Analyse des menschlichen Elektroretinogramms. Ophthalmologica 1952;123:396-412.
    • (1952) Ophthalmologica , vol.123 , pp. 396-412
    • Schubert, G.1    Bornscein, H.2
  • 3
    • 0022528965 scopus 로고
    • Congenital stationary night blindness with negative electroretinogram. A new classification
    • Miyake Y, Yagasaki K, Horiguchi M, et al. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 1986;104:1013-20.
    • (1986) Arch Ophthalmol , vol.104 , pp. 1013-1020
    • Miyake, Y.1    Yagasaki, K.2    Horiguchi, M.3
  • 4
    • 3543100236 scopus 로고    scopus 로고
    • Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
    • Bech-Hansen NT, Boycott KM, Gratton KJ, et al. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet 1998;103:124-30.
    • (1998) Hum Genet , vol.103 , pp. 124-130
    • Bech-Hansen, N.T.1    Boycott, K.M.2    Gratton, K.J.3
  • 5
    • 17344366487 scopus 로고    scopus 로고
    • An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
    • Strom TM, Nyakatura G, Apfelstedt-Sylla E, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 1998;19:260-3.
    • (1998) Nat Genet , vol.19 , pp. 260-263
    • Strom, T.M.1    Nyakatura, G.2    Apfelstedt-Sylla, E.3
  • 6
    • 0033757466 scopus 로고    scopus 로고
    • Mutations in NYX, encoding the leucine-rich proteogycan nyctalopin, cause X-linked complete congenital stationary night blindness
    • Bech-Hansen NT, Naylor AAJ, Matbaum TA, et al. Mutations in NYX, encoding the leucine-rich proteogycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 2000;26:319-23.
    • (2000) Nat Genet , vol.26 , pp. 319-323
    • Bech-Hansen, N.T.1    Naylor, A.A.J.2    Matbaum, T.A.3
  • 7
    • 0033762779 scopus 로고    scopus 로고
    • The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
    • Pusch CM, Zeitz C, Brandau O, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet 2000;26:324-7.
    • (2000) Nat Genet , vol.26 , pp. 324-327
    • Pusch, C.M.1    Zeitz, C.2    Brandau, O.3
  • 8
    • 0023722496 scopus 로고
    • X-linked congenital stationary night blindness. Review and report of a family with hyperopia
    • Khouri G, Mets MB, Smith VC, et al. X-linked congenital stationary night blindness. Review and report of a family with hyperopia. Arch Ophthalmol 1988;106:1417-22.
    • (1988) Arch Ophthalmol , vol.106 , pp. 1417-1422
    • Khouri, G.1    Mets, M.B.2    Smith, V.C.3
  • 9
    • 0025274526 scopus 로고
    • Variable expressivity in X-linked congenital stationary night blindness
    • Pearce WG, Reedyk M, Coupland SG. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol 1990;25:3-10.
    • (1990) Can J Ophthalmol , vol.25 , pp. 3-10
    • Pearce, W.G.1    Reedyk, M.2    Coupland, S.G.3
  • 10
    • 0026639778 scopus 로고
    • Linkage analysis in X-linked congenital stationary night blindness
    • published erratum appears in Genomics 1994;22:255
    • Aldred MA, Dry KL, Sharp DM, et al. Linkage analysis in X-linked congenital stationary night blindness [published erratum appears in Genomics 1994;22:255]. Genomics 1992;14:99-104.
    • (1992) Genomics , vol.14 , pp. 99-104
    • Aldred, M.A.1    Dry, K.L.2    Sharp, D.M.3
  • 11
    • 0032803677 scopus 로고    scopus 로고
    • Identification of novel RPGR (retinitis pimentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus
    • Zita I, Thiselton DL, Gorin MB, et al. Identification of novel RPGR (retinitis pimentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. Hum Genet 1999;105:57-62.
    • (1999) Hum Genet , vol.105 , pp. 57-62
    • Zita, I.1    Thiselton, D.L.2    Gorin, M.B.3
  • 12
    • 0031442646 scopus 로고    scopus 로고
    • Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp
    • Hardcastle AJ, David-Gray ZK, Jay M, et al. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Invest Ophthalmol Vis Sci 1997;38:2750-5.
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 2750-2755
    • Hardcastle, A.J.1    David-Gray, Z.K.2    Jay, M.3
  • 13
  • 14
    • 0033386160 scopus 로고    scopus 로고
    • Clinical features of codon 172 RDS macular dystrophy
    • Downes SM, Fitzke FW, Holder GE, et al. Clinical features of codon 172 RDS macular dystrophy. Arch Ophthalmol 1999;117:1373-83.
    • (1999) Arch Ophthalmol , vol.117 , pp. 1373-1383
    • Downes, S.M.1    Fitzke, F.W.2    Holder, G.E.3
  • 15
    • 0027324202 scopus 로고
    • Symptomatic abnormalities of dark adaptation in patients with agerelated Bruch's membrane change
    • Steinmetz RL, Haimovici R, Jubb C, et al. Symptomatic abnormalities of dark adaptation in patients with agerelated Bruch's membrane change. Br J Ophthalmol 1993;77:549-54.
    • (1993) Br J Ophthalmol , vol.77 , pp. 549-554
    • Steinmetz, R.L.1    Haimovici, R.2    Jubb, C.3
  • 16
    • 0033358517 scopus 로고    scopus 로고
    • Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG
    • Bradshaw K, George N, Moore A, et al. Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Doc Ophthalmol 1999;98:153-73.
    • (1999) Doc Ophthalmol , vol.98 , pp. 153-173
    • Bradshaw, K.1    George, N.2    Moore, A.3
  • 17
    • 0032243415 scopus 로고    scopus 로고
    • Standard for clinical electroretinograohy (1999 update)
    • Marmor MF, Zrenner E. Standard for clinical electroretinograohy (1999 update). Doc Ophthalmol 1998;97:143-56.
    • (1998) Doc Ophthalmol , vol.97 , pp. 143-156
    • Marmor, M.F.1    Zrenner, E.2
  • 18
    • 0033744810 scopus 로고    scopus 로고
    • Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
    • Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol 2000;35:204-13.
    • (2000) Can J Ophthalmol , vol.35 , pp. 204-213
    • Boycott, K.M.1    Pearce, W.G.2    Bech-Hansen, N.T.3
  • 19
    • 0032833621 scopus 로고    scopus 로고
    • Blue-on-yellow perimetry in the complete type of congenital stationary night blindness
    • Terasaki H, Miyake Y, Nomura R, et al. Blue-on-yellow perimetry in the complete type of congenital stationary night blindness. Invest Ophthalmol Vis Sci 1999;40:2761-4.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2761-2764
    • Terasaki, H.1    Miyake, Y.2    Nomura, R.3
  • 20
    • 0034799576 scopus 로고    scopus 로고
    • Slow and fast rod ERG pathways in patients with X-linked congenital stationary night blindness carrying mutations in the NYX gene
    • Scholl HP, Langrova H, Pusch CM, et al. Slow and fast rod ERG pathways in patients with X-linked congenital stationary night blindness carrying mutations in the NYX gene. Invest Ophthalmol Vis Sci 2001;42:2728-36.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 2728-2736
    • Scholl, H.P.1    Langrova, H.2    Pusch, C.M.3
  • 21
    • 4243512062 scopus 로고    scopus 로고
    • Rod photoreceptor function in congenital stationary night blindness (CSNB)
    • Hansen RM, Asefzadeh B, Fulton AB. Rod photoreceptor function in congenital stationary night blindness (CSNB). Invest Ophthalmol Vis Sci 2001;42:S77.
    • (2001) Invest Ophthalmol Vis Sci , vol.42
    • Hansen, R.M.1    Asefzadeh, B.2    Fulton, A.B.3
  • 22
    • 0029053553 scopus 로고
    • The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness
    • Tremblay F, Laroche RG, De Becker I. The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vis Res 1995;35:2383-93.
    • (1995) Vis Res , vol.35 , pp. 2383-2393
    • Tremblay, F.1    Laroche, R.G.2    De Becker, I.3
  • 23
    • 0023146464 scopus 로고
    • On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness
    • Miyake Y, Yagasaki K, Horiguchi M, et al. On-and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness. Jpn J Ophthalmol 1987;31:81-7.
    • (1987) Jpn J Ophthalmol , vol.31 , pp. 81-87
    • Miyake, Y.1    Yagasaki, K.2    Horiguchi, M.3
  • 24
    • 0000045955 scopus 로고
    • X-linked congenital stationary night blindness and depolarising bipolar cell function
    • Houchin KW, Purple RL, Wirtschafter JD. X-linked congenital stationary night blindness and depolarising bipolar cell function. Invest Ophthalmol Vis Sci 1991;32:1229.
    • (1991) Invest Ophthalmol Vis Sci , vol.32 , pp. 1229
    • Houchin, K.W.1    Purple, R.L.2    Wirtschafter, J.D.3
  • 25
    • 0036273213 scopus 로고    scopus 로고
    • Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type
    • Langrova H, Gamer D, Friedberg C, et al. Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type. Vis Res 2002;42:1475-83.
    • (2002) Vis Res , vol.42 , pp. 1475-1483
    • Langrova, H.1    Gamer, D.2    Friedberg, C.3
  • 26
    • 0028080261 scopus 로고
    • The leucine-rich repeat: A versatile binding motif
    • 2a Kobe B, Deisenhofer J. The leucine-rich repeat: a versatile binding motif. Trends Biol Sci 1994;19:415-21.
    • (1994) Trends Biol Sci , vol.19 , pp. 415-421
    • Kobe, B.1    Deisenhofer, J.2
  • 27
    • 0031902035 scopus 로고    scopus 로고
    • Leucine-rich repeat glycoproteins of the extracellular matrix
    • Hocking AM, Shinomura T, McQuillan DJ. Leucine-rich repeat glycoproteins of the extracellular matrix. Matrix Biol 1998;17:1-19.
    • (1998) Matrix Biol , vol.17 , pp. 1-19
    • Hocking, A.M.1    Shinomura, T.2    McQuillan, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.