메뉴 건너뛰기




Volumn 104, Issue 1, 1999, Pages 77-82

Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2P; CLINICAL ARTICLE; FEMALE; GENE LOCUS; GENE MAPPING; HUMAN; MALE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; YEAST ARTIFICIAL CHROMOSOME;

EID: 0033009635     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050913     Document Type: Article
Times cited : (14)

References (41)
  • 1
    • 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, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B (1997a) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3    Shroyer, N.F.4    Hutchinson, A.5    Chidambaram, A.6    Gerrard, B.7
  • 4
    • 0025369509 scopus 로고
    • A 3.5 genome equivalent multi access YAC library: Construction, characterisation, screening and storage
    • Anand R, Riley JH, Butler R, Smith JC, Markham AF (1990) A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. Nucleic Acids Res 18:1951-1956
    • (1990) Nucleic Acids Res , vol.18 , pp. 1951-1956
    • Anand, R.1    Riley, J.H.2    Butler, R.3    Smith, J.C.4    Markham, A.F.5
  • 5
    • 0023732713 scopus 로고
    • A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors
    • Attwood J, Bryant S (1988) A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet 52:259
    • (1988) Ann Hum Genet , vol.52 , pp. 259
    • Attwood, J.1    Bryant, S.2
  • 9
    • 0030027775 scopus 로고    scopus 로고
    • Is the incidence of registrable age-related macular degeneration increasing?
    • Evans J, Wormald R (1996) Is the incidence of registrable age-related macular degeneration increasing? Br J Ophthalmol 80:9-14
    • (1996) Br J Ophthalmol , vol.80 , pp. 9-14
    • Evans, J.1    Wormald, R.2
  • 10
    • 0029808361 scopus 로고    scopus 로고
    • The genetics of complex ophthalmic disorders
    • Evans K, Bird AC (1996) The genetics of complex ophthalmic disorders. Br J Ophthalmol 80:763-768
    • (1996) Br J Ophthalmol , vol.80 , pp. 763-768
    • Evans, K.1    Bird, A.C.2
  • 12
    • 0030035986 scopus 로고    scopus 로고
    • The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
    • Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, Cox N (1996) The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 5:1055-1059
    • (1996) Hum Mol Genet , vol.5 , pp. 1055-1059
    • Gregory, C.Y.1    Evans, K.2    Wijesuriya, S.D.3    Kermani, S.4    Jay, M.R.5    Plant, C.6    Cox, N.7
  • 13
    • 0344488813 scopus 로고
    • Apial polarity of Na-K+-ATPase in retinal pigment epithelium is linked to a reversal of the ankyrin fodrin submembrane cytoskeleton
    • Gundersen D, Orlowski J, Rodriguez-Boulan E (1991) Apial polarity of Na-K+-ATPase in retinal pigment epithelium is linked to a reversal of the ankyrin fodrin submembrane cytoskeleton. Invest Ophthalmol Vis Sci 29:814-817
    • (1991) Invest Ophthalmol Vis Sci , vol.29 , pp. 814-817
    • Gundersen, D.1    Orlowski, J.2    Rodriguez-Boulan, E.3
  • 19
    • 0025897085 scopus 로고
    • Yeast artificial chromosome libraries containing large inserts from mouse and human DNA
    • Larin Z, Monaco AP, Lehrach H (1991) Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc Natl Acad Sci USA 88:4123-4127
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 4123-4127
    • Larin, Z.1    Monaco, A.P.2    Lehrach, H.3
  • 22
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
    • Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MRS (1996) A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 13:35-42
    • (1996) Nat Genet , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3    Manson, F.4    Ciccodicola, A.5    Edgar, A.6    Carvalho, M.R.S.7
  • 24
    • 0014248704 scopus 로고
    • Doyne's honeycomb retinal degeneration: Clinical and genetic features
    • Pearce WG (1968) Doyne's honeycomb retinal degeneration: clinical and genetic features. Br J Ophthalmol 52:73-78
    • (1968) Br J Ophthalmol , vol.52 , pp. 73-78
    • Pearce, W.G.1
  • 26
    • 0344919932 scopus 로고    scopus 로고
    • RetNet (1997) http://www.sph.uth.tmc.edu/Retnet/
    • (1997)
  • 28
  • 29
    • 0026895234 scopus 로고
    • Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
    • Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC (1992) Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1:246-250
    • (1992) Nat Genet , vol.1 , pp. 246-250
    • Stone, E.M.1    Nichols, B.E.2    Streb, L.M.3    Kimura, A.E.4    Sheffield, V.C.5
  • 30
    • 0028309553 scopus 로고
    • Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
    • Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack AV, Sheffield VC (1994) Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 112:765-772
    • (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.V.5    Sheffield, V.C.6
  • 31
    • 0026864615 scopus 로고
    • An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids
    • Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1:121-122
    • (1992) Hum Mol Genet , vol.1 , pp. 121-122
    • Tagle, D.A.1    Collins, F.S.2
  • 33
    • 0029841724 scopus 로고    scopus 로고
    • Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping
    • Thiselton DL, Hampson RM, Nayudu M, Maldergem L van, Wolf ML, Saha BK, Bhattacharya SS (1996) Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping. Genome Res 6:1093-1102
    • (1996) Genome Res , vol.6 , pp. 1093-1102
    • Thiselton, D.L.1    Hampson, R.M.2    Nayudu, M.3    Van Maldergem, L.4    Wolf, M.L.5    Saha, B.K.6    Bhattacharya, S.S.7
  • 34
    • 0028897394 scopus 로고
    • YAC contigs covering an 8-megabase region of 3p deleted in the small cell lung cancer cell line U2020
    • Todd S, Roche J, Hahner L, Bolin R, Drabbin HA, Gremmil RM (1995) YAC contigs covering an 8-megabase region of 3p deleted in the small cell lung cancer cell line U2020. Genomics 25:19-28
    • (1995) Genomics , vol.25 , pp. 19-28
    • Todd, S.1    Roche, J.2    Hahner, L.3    Bolin, R.4    Drabbin, H.A.5    Gremmil, R.M.6
  • 35
    • 4244163319 scopus 로고    scopus 로고
    • Carney complex segregates with markers from the chromosome 2p16 CNC locus in two new kindreds: Placement of new markers and integration of genetic and physical mapping of the region
    • Vottero A, Lin J-P, Aksentijevich I, Kastner DL, Carney JA, Chrousos GP, Stratakis CA (1996) Carney complex segregates with markers from the chromosome 2p16 CNC locus in two new kindreds: placement of new markers and integration of genetic and physical mapping of the region. Am J Hum Genet 59:A240
    • (1996) Am J Hum Genet , vol.59
    • Vottero, A.1    Lin, J.-P.2    Aksentijevich, I.3    Kastner, D.L.4    Carney, J.A.5    Chrousos, G.P.6    Stratakis, C.A.7
  • 36
    • 0028304097 scopus 로고
    • Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter
    • Weber BHF, Vogt G, Wolz W, Ives EJ, Ewing CC (1994a) Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter. Nat Genet 7:158-161
    • (1994) Nat Genet , vol.7 , pp. 158-161
    • Weber, B.H.F.1    Vogt, G.2    Wolz, W.3    Ives, E.J.4    Ewing, C.C.5
  • 37
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber BHF, Vogt G, Pruett RC, Stohr H, Felbor U (1994b) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 8:352-356
    • (1994) Nat Genet , vol.8 , pp. 352-356
    • Weber, B.H.F.1    Vogt, G.2    Pruett, R.C.3    Stohr, H.4    Felbor, U.5
  • 38
    • 0027447531 scopus 로고
    • Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
    • Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein C, Jay M (1993) Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 3:213-218
    • (1993) Nat Genet , vol.3 , pp. 213-218
    • Wells, J.1    Wroblewski, J.2    Keen, J.3    Inglehearn, C.4    Jubb, C.5    Eckstein, C.6    Jay, M.7
  • 39
    • 0344919904 scopus 로고    scopus 로고
    • Whitehead Institute/MIT Center for Genome Research, Human Genetic Mapping Project, Data Release 10
    • Whitehead Institute/MIT Center for Genome Research, Human Genetic Mapping Project, Data Release 10 (1996) http://www-genome.wi.mit.edu/
    • (1996)
  • 40
    • 0029881620 scopus 로고    scopus 로고
    • Sorsky's fundus dystrophy in the British Isles: Demonstration of a striking founder effect by microsatellite-generated haplotypes
    • Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BMF, Bird AC, Bhattacharya SS, et al. (1996) Sorsky's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res 6:92-101
    • (1996) Genome Res , vol.6 , pp. 92-101
    • Wijesuriya, S.D.1    Evans, K.2    Jay, M.R.3    Davison, C.4    Weber, B.M.F.5    Bird, A.C.6    Bhattacharya, S.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.