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Volumn 89, Issue 7, 2005, Pages 820-824

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; THYMINE;

EID: 21344452528     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2004.060582     Document Type: Article
Times cited : (9)

References (33)
  • 1
    • 0032435196 scopus 로고    scopus 로고
    • X-linked ocular albinism: Prevalence and mutations - A national study
    • Rosenberg T, Schwartz M. X-linked ocular albinism: prevalence and mutations-a national study. Eur J Hum Genet 1998;6:570-7.
    • (1998) Eur J Hum Genet , vol.6 , pp. 570-577
    • Rosenberg, T.1    Schwartz, M.2
  • 2
    • 0027233787 scopus 로고
    • Clinical features of affected males with X linked ocular albinism
    • Charles SJ, Green JS, Grant JW, et al. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol 1993;77:222-7.
    • (1993) Br J Ophthalmol , vol.77 , pp. 222-227
    • Charles, S.J.1    Green, J.S.2    Grant, J.W.3
  • 7
    • 0017027276 scopus 로고
    • X-linked ocular albinism. An oculocutaneous macromelanosomal disorder
    • O'Donnell FE Jr, Hambrick GW Jr, Green WR, et al. X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Arch Ophthalmol 1976;94:1883-92.
    • (1976) Arch Ophthalmol , vol.94 , pp. 1883-1892
    • O'Donnell Jr., F.E.1    Hambrick Jr., G.W.2    Green, W.R.3
  • 8
    • 0018894668 scopus 로고
    • Macromelanosomes in X-linked ocular albinism
    • Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology 1980;4:243-54.
    • (1980) Histopathology , vol.4 , pp. 243-254
    • Garner, A.1    Jay, B.S.2
  • 9
    • 0001363327 scopus 로고
    • Sex chromatin and gene action in the mammalian X-chromosome
    • Lyon MF. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962;14:135-48.
    • (1962) Am J Hum Genet , vol.14 , pp. 135-148
    • Lyon, M.F.1
  • 10
    • 0027051046 scopus 로고
    • Genetic counselling in X-linked ocular albinism: Clinical features of the carrier state
    • Charles SJ, Moore AT, Grant JW, et al. Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye 1992;6:75-9.
    • (1992) Eye , vol.6 , pp. 75-79
    • Charles, S.J.1    Moore, A.T.2    Grant, J.W.3
  • 11
    • 0019477878 scopus 로고
    • X-linked ocular albinism: Relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers
    • Cortin P, Tremblay M, Lemagne JM. X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. Can J Ophthalmol 1981;16:121-3.
    • (1981) Can J Ophthalmol , vol.16 , pp. 121-123
    • Cortin, P.1    Tremblay, M.2    Lemagne, J.M.3
  • 12
    • 84907115149 scopus 로고
    • X-linked ocular albinism. Characteristic pattern of affection in female carriers
    • Lang GE, Rott HD, Pfeiffer RA. X-linked ocular albinism. Characteristic pattern of affection in female carriers. Ophthalmic Paediatr Genet 1990;11:265-71.
    • (1990) Ophthalmic Paediatr Genet , vol.11 , pp. 265-271
    • Lang, G.E.1    Rott, H.D.2    Pfeiffer, R.A.3
  • 13
    • 0027278123 scopus 로고
    • Refinement of the localization of the X-linked ocular albinism gene
    • Bergen AA, Zijp P, Schuurman EJ, et al. Refinement of the localization of the X-linked ocular albinism gene. Genomics 1993;16:272-3.
    • (1993) Genomics , vol.16 , pp. 272-273
    • Bergen, A.A.1    Zijp, P.2    Schuurman, E.J.3
  • 17
    • 0028852091 scopus 로고
    • Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
    • Schiaffino MV, Bassi MT, Galli L, et al. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 1995;4:2319-25.
    • (1995) Hum Mol Genet , vol.4 , pp. 2319-2325
    • Schiaffino, M.V.1    Bassi, M.T.2    Galli, L.3
  • 18
    • 0029059066 scopus 로고
    • Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
    • Bassi MT, Schiaffino MV, Renieri A, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 1995;10:13-19.
    • (1995) Nat Genet , vol.10 , pp. 13-19
    • Bassi, M.T.1    Schiaffino, M.V.2    Renieri, A.3
  • 19
    • 0029786525 scopus 로고    scopus 로고
    • The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes
    • Schiaffino MV, Baschirotto C, Pellegrini G, et al. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci USA 1996;93:9055-60.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 9055-9060
    • Schiaffino, M.V.1    Baschirotto, C.2    Pellegrini, G.3
  • 20
    • 0034997091 scopus 로고    scopus 로고
    • Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: Consequences of disease-causing mutations and implications for melanosome biogenesis
    • Shen B, Rosenberg B, Orlow SJ. Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. Traffic 2001;2:202-11.
    • (2001) Traffic , vol.2 , pp. 202-211
    • Shen, B.1    Rosenberg, B.2    Orlow, S.J.3
  • 21
    • 0032820144 scopus 로고    scopus 로고
    • Ocular albinism: Evidence for a defect in an intracellular signal transduction system
    • Schiaffino MV, d'Addio M, Alloni A, et al. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet 1999;23:108-12.
    • (1999) Nat Genet , vol.23 , pp. 108-112
    • Schiaffino, M.V.1    D'Addio, M.2    Alloni, A.3
  • 22
    • 0016137862 scopus 로고
    • Asymmetric visually evoked potentials in human albinos: Evidence for visual system anomalies
    • Creel D, Witkop CJ Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence For visual system anomalies. Invest Ophtalmol 1974;13:430-40.
    • (1974) Invest Ophtalmol , vol.13 , pp. 430-440
    • Creel, D.1    Witkop Jr., C.J.2    King, R.A.3
  • 24
    • 0038356407 scopus 로고    scopus 로고
    • The clinical features of albinism and their correlation with visual evoked potentials
    • Dorey SE, Neveu MM, Burton LC, et al. The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol 2003;87:767-72.
    • (2003) Br J Ophthalmol , vol.87 , pp. 767-772
    • Dorey, S.E.1    Neveu, M.M.2    Burton, L.C.3
  • 25
    • 0037347124 scopus 로고    scopus 로고
    • Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism
    • Pott JW, Jansonius NM, Kooijman AC. Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism. Doc Ophthalmol 2003;106:137-43.
    • (2003) Doc Ophthalmol , vol.106 , pp. 137-143
    • Pott, J.W.1    Jansonius, N.M.2    Kooijman, A.C.3
  • 26
    • 0028297479 scopus 로고
    • Evoked potential analysis of visual pathways in human albinism
    • Bouzas EA, Caruso RC, Drews-Bankiewicz MA, et al. Evoked potential analysis of visual pathways in human albinism. Ophthalmology 1994;101:309-14.
    • (1994) Ophthalmology , vol.101 , pp. 309-314
    • Bouzas, E.A.1    Caruso, R.C.2    Drews-Bankiewicz, M.A.3
  • 27
    • 26244462082 scopus 로고
    • Magnetoencephalography-theory, instrumentation and applications to noninvasive studies or the working human brain
    • Hämäläinen M, Hari R, Ilmoniemi RJ, et al. Magnetoencephalography-theory, instrumentation and applications to noninvasive studies or the working human brain. Rev Mod Phys 1993;65:414-97.
    • (1993) Rev Mod Phys , vol.65 , pp. 414-497
    • Hämäläinen, M.1    Hari, R.2    Ilmoniemi, R.J.3
  • 28
    • 21344464936 scopus 로고    scopus 로고
    • Visual evoked magnetic fields in the detection of optic pathway misrouting in ocular albinism
    • Jena, Germany
    • Lauronen L, Sankila E-M, Salmi T, et al. Visual evoked magnetic fields in the detection of optic pathway misrouting in ocular albinism [abstract]. In: BioMag2002. Jena, Germany, 2002.
    • (2002) BioMag2002
    • Lauronen, L.1    Sankila, E.-M.2    Salmi, T.3
  • 29
    • 1642331639 scopus 로고    scopus 로고
    • New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography
    • Ohde H, Shinoda K, Nishiyama T, et al. New method for detecting misrouted retinofugal fibers in humans with albinism by magnetoencephalography. Vis Res 2004;44:1033-8.
    • (2004) Vis Res , vol.44 , pp. 1033-1038
    • Ohde, H.1    Shinoda, K.2    Nishiyama, T.3
  • 30
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis os single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, et al. Detection of polymorphisms of human DNA by gel electrophoresis os single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-70.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3
  • 31
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991;196:80-3.
    • (1991) Anal Biochem , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 32
    • 0034642294 scopus 로고    scopus 로고
    • Defective intracellular transport and processing of OAl is a major cause of ocular albinism type 1
    • d'Addio M, Pizzigoni A, Bassi MT, et al. Defective intracellular transport and processing of OAl is a major cause of ocular albinism type 1. Hum Mol Genet 2000;9:3011-8.
    • (2000) Hum Mol Genet , vol.9 , pp. 3011-3018
    • D'Addio, M.1    Pizzigoni, A.2    Bassi, M.T.3
  • 33
    • 0034846465 scopus 로고    scopus 로고
    • Deletion in the OA1 gene in a family with congenital X linked nystagmus
    • Preising M, Op de Laak JP, Lorenz B. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Br J Ophthalmol 2001;85:1098-103.
    • (2001) Br J Ophthalmol , vol.85 , pp. 1098-1103
    • Preising, M.1    Op De Laak, J.P.2    Lorenz, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.