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Volumn 130, Issue 2, 2000, Pages 197-202

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0033833739     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00585-7     Document Type: Article
Times cited : (26)

References (29)
  • 1
    • 0002279574 scopus 로고
    • A peculiar condition of choroiditis occurring in several members of the same family
    • Doyne R.W. A peculiar condition of choroiditis occurring in several members of the same family. Trans Ophthal Soc UK. 19:1899;71.
    • (1899) Trans Ophthal Soc UK , vol.19 , pp. 71
    • Doyne, R.W.1
  • 2
    • 0002879186 scopus 로고
    • Die Ophthalmoskopie im rotfreien Licht
    • In: Graefe A, Saemisch T, (editors). Berlin: Leipez, Verlag von Wilhelm Engelman
    • Vogt A. Die Ophthalmoskopie im rotfreien Licht. In: Graefe A, Saemisch T, (editors). Handbuch der gesammten Augenheilkunde. Untersuchungsmethoden, 3rd ed. Berlin: Leipez, Verlag von Wilhelm Engelman, 1925;1-118.
    • (1925) Handbuch der Gesammten Augenheilkunde. Untersuchungsmethoden, 3rd Ed. , pp. 1-118
    • Vogt, A.1
  • 3
    • 0030035986 scopus 로고    scopus 로고
    • The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
    • Gregory C.Y., Evans K., Wijesuriya S.D., et al. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Molec Genet. 5:1996;1055-1059.
    • (1996) Hum Molec Genet , vol.5 , pp. 1055-1059
    • Gregory, C.Y.1    Evans, K.2    Wijesuriya, S.D.3
  • 4
    • 9044250844 scopus 로고    scopus 로고
    • Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
    • Heon E., Piguet B., Munier F., et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol. 114:1996;193-198.
    • (1996) Arch Ophthalmol , vol.114 , pp. 193-198
    • Heon, E.1    Piguet, B.2    Munier, F.3
  • 5
    • 0032167968 scopus 로고    scopus 로고
    • Malattia leventinese: Refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen
    • Edwards A.O., Klein M.L., Berselli C.B., et al. Malattia leventinese refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen . Am J Ophthalmol. 126:1998;417-424.
    • (1998) Am J Ophthalmol , vol.126 , pp. 417-424
    • Edwards, A.O.1    Klein, M.L.2    Berselli, C.B.3
  • 6
    • 0033027071 scopus 로고    scopus 로고
    • A single EFEMP1 mutation associated with both malattia leventinese and Doyne honeycomb retinal dystrophy
    • Stone E.M., Lotery A.J., Munier F.L., et al. A single EFEMP1 mutation associated with both malattia leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 22:1999;199-202.
    • (1999) Nat Genet , vol.22 , pp. 199-202
    • Stone, E.M.1    Lotery, A.J.2    Munier, F.L.3
  • 7
    • 0032468842 scopus 로고    scopus 로고
    • Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q
    • Klein M.L., Schultz D.W., Edwards A., et al. Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 116:1998;1082-1088.
    • (1998) Arch Ophthalmol , vol.116 , pp. 1082-1088
    • Klein, M.L.1    Schultz, D.W.2    Edwards, A.3
  • 8
    • 0028304097 scopus 로고
    • Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
    • Weber B.H.F., Vogt G., Wolz W., et al. Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet. 7:1994;158-160.
    • (1994) Nat Genet , vol.7 , pp. 158-160
    • Weber, B.H.F.1    Vogt, G.2    Wolz, W.3
  • 10
    • 0032231753 scopus 로고    scopus 로고
    • Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q
    • Kelsell R.E., Gregory-Evans K., Gregory-Evans C.Y., et al. Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet. 63:1998;274-279.
    • (1998) Am J Hum Genet , vol.63 , pp. 274-279
    • Kelsell, R.E.1    Gregory-Evans, K.2    Gregory-Evans, C.Y.3
  • 11
    • 0033825507 scopus 로고    scopus 로고
    • Clinical spectrum of chromosome 6-linked autosomal dominant drusen with macular degeneration
    • Stefko S.T., Zhang K., Gorin M., Cutting G., Traboulsi E.I. Clinical spectrum of chromosome 6-linked autosomal dominant drusen with macular degeneration. Am J Ophthalmol. 130:2000;203-208.
    • (2000) Am J Ophthalmol , vol.130 , pp. 203-208
    • Stefko, S.T.1    Zhang, K.2    Gorin, M.3    Cutting, G.4    Traboulsi, E.I.5
  • 12
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: individual and sex-specific variation in recombination
    • Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 1998;63:861-689.
    • (1998) Am J Hum Genet , vol.63 , pp. 861-689
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.L.4    Weber, J.L.5
  • 13
    • 0028790963 scopus 로고
    • The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
    • O'Connell J.R., Weeks D.E. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet. 11:1995;402-408.
    • (1995) Nat Genet , vol.11 , pp. 402-408
    • O'Connell, J.R.1    Weeks, D.E.2
  • 14
    • 0025827541 scopus 로고
    • The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA
    • Travis G.H., Christerson L., Danielson P.E., et al. The human retinal degeneration slow (RDS) gene chromosome assignment and structure of the mRNA . Genomics. 10:1991;733-739.
    • (1991) Genomics , vol.10 , pp. 733-739
    • Travis, G.H.1    Christerson, L.2    Danielson, P.E.3
  • 15
    • 0028309553 scopus 로고
    • Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
    • Stone E.M., Nichols B.E., Kimura A.E., Weingeist T.A., Drack A., Sheffield V.C. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol. 112:1994;765-772.
    • (1994) Arch Ophthalmol , vol.112 , pp. 765-772
    • Stone, E.M.1    Nichols, B.E.2    Kimura, A.E.3    Weingeist, T.A.4    Drack, A.5    Sheffield, V.C.6
  • 17
    • 0027372405 scopus 로고
    • A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
    • Kaplan J., Gerber S., Larget-Piet D., et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet. 5:1993;308-311.
    • (1993) Nat Genet , vol.5 , pp. 308-311
    • Kaplan, J.1    Gerber, S.2    Larget-Piet, D.3
  • 18
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets R., Singh N., Sun H., et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 15:1997;236-246.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 19
    • 0033365301 scopus 로고    scopus 로고
    • A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4
    • Kniazeva M., Chiang M.F., Morgan B., et al. A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4. Am J Hum Genet. 64:1999;1394-1399.
    • (1999) Am J Hum Genet , vol.64 , pp. 1394-1399
    • Kniazeva, M.1    Chiang, M.F.2    Morgan, B.3
  • 20
    • 0030774056 scopus 로고    scopus 로고
    • An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1)
    • Sauer C.G., Schworm H.D., Ulbig M., et al. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). J Med Genet. 34:1997;961-966.
    • (1997) J Med Genet , vol.34 , pp. 961-966
    • Sauer, C.G.1    Schworm, H.D.2    Ulbig, M.3
  • 21
    • 0032052176 scopus 로고    scopus 로고
    • A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus
    • Rabb M.F., Mullen L., Yelchits S., Udar N., Small K.W. A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus. Am J Ophthalmol. 125:1998;502-508.
    • (1998) Am J Ophthalmol , vol.125 , pp. 502-508
    • Rabb, M.F.1    Mullen, L.2    Yelchits, S.3    Udar, N.4    Small, K.W.5
  • 22
    • 0033616054 scopus 로고    scopus 로고
    • North Carolina macular dystrophy (MCDR1) locus: A fine resolution genetic map and haplotype analysis
    • Small K.W., Udar N., Yelchits S., et al. North Carolina macular dystrophy (MCDR1) locus a fine resolution genetic map and haplotype analysis . Mol Vis. 29:1999;38-47.
    • (1999) Mol Vis , vol.29 , pp. 38-47
    • Small, K.W.1    Udar, N.2    Yelchits, S.3
  • 23
  • 25
    • 0026775222 scopus 로고
    • A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa
    • Talmud P.J., Converse C., Krul E., et al. A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa. Clin Genet. 42:1992;62-70.
    • (1992) Clin Genet , vol.42 , pp. 62-70
    • Talmud, P.J.1    Converse, C.2    Krul, E.3
  • 26
    • 0028296414 scopus 로고
    • Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor
    • Eckner R., Ewen M.E., Newsome D., et al. Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor. Genes Dev. 8:1994;869-884.
    • (1994) Genes Dev , vol.8 , pp. 869-884
    • Eckner, R.1    Ewen, M.E.2    Newsome, D.3
  • 27
    • 0025890013 scopus 로고
    • Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: A GABA receptor subunit highly expressed in the retina
    • Cutting G.R., Lu L., O'Hara B.F., et al. Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA a GABA receptor subunit highly expressed in the retina . Proc Natl Acad Sci USA. 88:1991;2673-2677.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 2673-2677
    • Cutting, G.R.1    Lu, L.2    O'Hara, B.F.3
  • 28
    • 0026503995 scopus 로고
    • Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4
    • Cutting G.R., Curristin S., Zoghbi H., O'Hara B., Seldin M.F., Uhl G.R. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics. 12:1992;801-806.
    • (1992) Genomics , vol.12 , pp. 801-806
    • Cutting, G.R.1    Curristin, S.2    Zoghbi, H.3    O'Hara, B.4    Seldin, M.F.5    Uhl, G.R.6
  • 29
    • 0033987580 scopus 로고    scopus 로고
    • Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci
    • Griesinger I.B., Sieving P.A., Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest Ophthalmol Vis Sci. 41:2000;248-255.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 248-255
    • Griesinger, I.B.1    Sieving, P.A.2    Ayyagari, R.3


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