메뉴 건너뛰기




Volumn 89, Issue 2, 2005, Pages 194-197

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 12944321820     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2004.042507     Document Type: Article
Times cited : (24)

References (31)
  • 1
    • 0028790896 scopus 로고
    • Familial exudative vitreoretinopathy
    • Benson WE. Familial exudative vitreoretinopathy. Trans Am Ophthalmol Soc 1995;93:473-521.
    • (1995) Trans Am Ophthalmol Soc , vol.93 , pp. 473-521
    • Benson, W.E.1
  • 2
    • 0025965687 scopus 로고
    • Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy
    • van Nouhuys CE. Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 1991;111:34-41.
    • (1991) Am J Ophthalmol , vol.111 , pp. 34-41
    • Van Nouhuys, C.E.1
  • 3
    • 0018834409 scopus 로고
    • Autosomal dominant exudative vitreoretinopathy
    • Ober RR, Bird AC, Hamilton AM, et al. Autosomal dominant exudative vitreoretinopathy. Br J Ophthalmol 1980;64:112-20.
    • (1980) Br J Ophthalmol , vol.64 , pp. 112-120
    • Ober, R.R.1    Bird, A.C.2    Hamilton, A.M.3
  • 4
    • 0015106895 scopus 로고
    • Familial exudative vitreoretinopathy
    • Gow J, Oliver GL. Familial exudative vitreoretinopathy. Arch Ophthalmol 1971;865:150-5.
    • (1971) Arch Ophthalmol , vol.865 , pp. 150-155
    • Gow, J.1    Oliver, G.L.2
  • 6
    • 0031575703 scopus 로고    scopus 로고
    • Familial exudative vitreoretinopathy: Further evidence for genetic heterogeneity
    • Shastry BS, Trese MT. Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet 1997;69:217-18.
    • (1997) Am J Med Genet , vol.69 , pp. 217-218
    • Shastry, B.S.1    Trese, M.T.2
  • 7
    • 14444268540 scopus 로고    scopus 로고
    • Autosomal recessive familial exudative vitreoretinopathy: Evidence for genetic heterogeneity
    • De Crecchio G, Simonelli F, Nunziata G. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet 1998;54:315-20.
    • (1998) Clin Genet , vol.54 , pp. 315-320
    • De Crecchio, G.1    Simonelli, F.2    Nunziata, G.3
  • 8
    • 0026641352 scopus 로고
    • X-linked recessive familial exudative vitreoretinopathy
    • Plager DA, Orgel IK, Ellis FD, et al. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol 1992;114:145-8.
    • (1992) Am J Ophthalmol , vol.114 , pp. 145-148
    • Plager, D.A.1    Orgel, I.K.2    Ellis, F.D.3
  • 9
    • 0031238615 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy
    • Shastry BS, Liu X, Hejtmancik JF, et al. Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. Genomics 1997;44:247-8.
    • (1997) Genomics , vol.44 , pp. 247-248
    • Shastry, B.S.1    Liu, X.2    Hejtmancik, J.F.3
  • 10
    • 0027538554 scopus 로고
    • X-linked exudative vitreoretinopathy: Clinical features and genetic linkage analysis
    • Fullwood P, Jones J, Bundey S, et al. X-linked exudative vitreoretinopathy: clinical features and genetic linkage analysis. Br J Ophthalmol 1993;77:168-70.
    • (1993) Br J Ophthalmol , vol.77 , pp. 168-170
    • Fullwood, P.1    Jones, J.2    Bundey, S.3
  • 11
    • 0026756530 scopus 로고
    • The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533
    • Li Y, Muller B, Fuhrmann C, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet 1992;51:749-54.
    • (1992) Am J Hum Genet , vol.51 , pp. 749-754
    • Li, Y.1    Muller, B.2    Fuhrmann, C.3
  • 12
    • 1342264760 scopus 로고    scopus 로고
    • Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
    • Toomes C, Downey LM, Bottomley HM, et al. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). Mol Vis 2004;10:37-42.
    • (2004) Mol Vis , vol.10 , pp. 37-42
    • Toomes, C.1    Downey, L.M.2    Bottomley, H.M.3
  • 13
    • 0035092388 scopus 로고    scopus 로고
    • A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13
    • Downey LM, Keen TJ, Roberts E, et al. A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13. Am J Hum Genet 2001;68:778-81.
    • (2001) Am J Hum Genet , vol.68 , pp. 778-781
    • Downey, L.M.1    Keen, T.J.2    Roberts, E.3
  • 14
    • 0028280907 scopus 로고
    • Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families
    • Muller B, Orth U, Van Nouhuys CE, et al. Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. Genomics 1994;20:317-19.
    • (1994) Genomics , vol.20 , pp. 317-319
    • Muller, B.1    Orth, U.2    Van Nouhuys, C.E.3
  • 15
    • 0029887050 scopus 로고    scopus 로고
    • Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity
    • Price SM, Periam N, Humphries A, et al. Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthalmic Genet 1996;17:53-7.
    • (1996) Ophthalmic Genet , vol.17 , pp. 53-57
    • Price, S.M.1    Periam, N.2    Humphries, A.3
  • 16
    • 0033809655 scopus 로고    scopus 로고
    • Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy
    • Shastry BS, Hejtmancik JF, Hiraoka M, et al. Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy. Clin Genet 2000;58:329-32.
    • (2000) Clin Genet , vol.58 , pp. 329-332
    • Shastry, B.S.1    Hejtmancik, J.F.2    Hiraoka, M.3
  • 17
    • 0035015985 scopus 로고    scopus 로고
    • Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis
    • Kondo H, Ohno K, Tahira T, et al. Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis. Hum Genet 2001;108:368-75.
    • (2001) Hum Genet , vol.108 , pp. 368-375
    • Kondo, H.1    Ohno, K.2    Tahira, T.3
  • 18
    • 0036789449 scopus 로고    scopus 로고
    • Mutant Frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
    • Robitaille J, MacDonald ML, Kaykas A, et al. Mutant Frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002;32:326-30.
    • (2002) Nat Genet , vol.32 , pp. 326-330
    • Robitaille, J.1    MacDonald, M.L.2    Kaykas, A.3
  • 19
    • 0027367772 scopus 로고
    • A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
    • Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993;5:180-3.
    • (1993) Nat Genet , vol.5 , pp. 180-183
    • Chen, Z.Y.1    Battinelli, E.M.2    Fielder, A.3
  • 20
    • 0031740305 scopus 로고    scopus 로고
    • Molecular dissection of Norrie disease
    • Berger W. Molecular dissection of Norrie disease. Acta Anat 1998;162:95-100.
    • (1998) Acta Anat , vol.162 , pp. 95-100
    • Berger, W.1
  • 21
    • 0029860759 scopus 로고    scopus 로고
    • X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution in exon 3 (R121L) of the Norrie gene
    • Johnson K, Mintz-Hittner HA, Perry YM, et al. X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution in exon 3 (R121L) of the Norrie gene. Clin Genet 1996;50:113-15.
    • (1996) Clin Genet , vol.50 , pp. 113-115
    • Johnson, K.1    Mintz-Hittner, H.A.2    Perry, Y.M.3
  • 22
    • 0026935145 scopus 로고
    • Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
    • Meindl A, Berger W, Meitinger T, et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet 1992;2:139-43.
    • (1992) Nat Genet , vol.2 , pp. 139-143
    • Meindl, A.1    Berger, W.2    Meitinger, T.3
  • 23
    • 12144289950 scopus 로고    scopus 로고
    • Vascular development in the retina and inner ear: Control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair
    • Xu Q, Wang Y, Dabdoub A, et al. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 2004;116:883-95.
    • (2004) Cell , vol.116 , pp. 883-895
    • Xu, Q.1    Wang, Y.2    Dabdoub, A.3
  • 24
    • 12144288372 scopus 로고    scopus 로고
    • Mutations in LRP5 or FZD4 underlie the common FEVR locus on chromosome 11q
    • Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common FEVR locus on chromosome 11q. Am J Hum Genet 2004;76:721-30.
    • (2004) Am J Hum Genet , vol.76 , pp. 721-730
    • Toomes, C.1    Bottomley, H.M.2    Jackson, R.M.3
  • 26
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 27
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • Broman KW, Murray JC, Sheffield VC, et al. Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 1998;63:861-9.
    • (1998) Am J Hum Genet , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3
  • 28
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome
    • Kong A, Gudbjartsson DF, Sainz J, et al. A high-resolution recombination map of the human genome. Nat Genet 2002;31:241-7.
    • (2002) Nat Genet , vol.31 , pp. 241-247
    • Kong, A.1    Gudbjartsson, D.F.2    Sainz, J.3
  • 29
    • 0141860035 scopus 로고    scopus 로고
    • Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity
    • Kondo H, Hayashi H, Oshima K, et al. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol 2003;87:1291-5.
    • (2003) Br J Ophthalmol , vol.87 , pp. 1291-1295
    • Kondo, H.1    Hayashi, H.2    Oshima, K.3
  • 30
    • 3142579195 scopus 로고    scopus 로고
    • Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy (FEVR)
    • Toomes C, Bottomley HM, Scott S, et al. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci 2004;45:2083-90.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 2083-2090
    • Toomes, C.1    Bottomley, H.M.2    Scott, S.3
  • 31
    • 0034062510 scopus 로고    scopus 로고
    • Genetic heterogeneity in familial exudative vitreoretinopathy: Exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree
    • Bamashmus MA, Downey LM, Inglehearn CF, et al. Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree. Br J Ophthalmol 2000;84:358-63.
    • (2000) Br J Ophthalmol , vol.84 , pp. 358-363
    • Bamashmus, M.A.1    Downey, L.M.2    Inglehearn, C.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.