메뉴 건너뛰기




Volumn 75, Issue 5, 2004, Pages 878-884

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; UNCLASSIFIED DRUG;

EID: 6344241957     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/425080     Document Type: Article
Times cited : (173)

References (34)
  • 1
    • 0021867828 scopus 로고
    • The ocular form of osteogenesis imperfecta: A new autosomal recessive syndrome
    • Beighton P, Winship I, Behari D (1985) The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome. Clin Genet 28:69-75
    • (1985) Clin Genet , vol.28 , pp. 69-75
    • Beighton, P.1    Winship, I.2    Behari, D.3
  • 5
  • 11
  • 15
    • 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, Hayashi H, Oshima K, Hayashi K (2001) Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis. Hum Genet 108:368-375
    • (2001) Hum Genet , vol.108 , pp. 368-375
    • Kondo, H.1    Ohno, K.2    Tahira, T.3    Hayashi, H.4    Oshima, K.5    Hayashi, K.6
  • 16
    • 0021344005 scopus 로고
    • Easy calculations of LOD scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM (1984) Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 21
    • 0028280907 scopus 로고
    • Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families
    • Müller B, Orth U, van Nouhuys CE, Duvigneau C, Fuhrmann C, Schwinger E, Laqua H, Gal A (1994) Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. Genomics 20:317-319
    • (1994) Genomics , vol.20 , pp. 317-319
    • Müller, B.1    Orth, U.2    Van Nouhuys, C.E.3    Duvigneau, C.4    Fuhrmann, C.5    Schwinger, E.6    Laqua, H.7    Gal, A.8
  • 22
  • 23
    • 0029887050 scopus 로고    scopus 로고
    • Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity
    • Price SM, Periam N, Humphries A, Woodruff G, Trembath RC (1996) Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthalmic Genet 17:53-57
    • (1996) Ophthalmic Genet , vol.17 , pp. 53-57
    • Price, S.M.1    Periam, N.2    Humphries, A.3    Woodruff, G.4    Trembath, R.C.5
  • 26
    • 0029039849 scopus 로고
    • Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy
    • Shastry BS, Hejtmancik JF, Plager DA, Hartzer MK, Trese MT (1995) Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. Genomics 27:341-344
    • (1995) Genomics , vol.27 , pp. 341-344
    • Shastry, B.S.1    Hejtmancik, J.F.2    Plager, D.A.3    Hartzer, M.K.4    Trese, M.T.5
  • 27
    • 0030902358 scopus 로고    scopus 로고
    • Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy
    • Shastry BS, Hejtmancik JF, Trese MT (1997a) Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat 9:396-401
    • (1997) Hum Mutat , vol.9 , pp. 396-401
    • Shastry, B.S.1    Hejtmancik, J.F.2    Trese, M.T.3
  • 28
    • 0005640096 scopus 로고    scopus 로고
    • Molecular genetics of familial exudative vitreoretinopathy and Norrie disease
    • Shastry BS, Hiraoka M (2000) Molecular genetics of familial exudative vitreoretinopathy and Norrie disease. Curr Genomics 1:259-269
    • (2000) Curr Genomics , vol.1 , pp. 259-269
    • Shastry, B.S.1    Hiraoka, M.2
  • 29
    • 0031238615 scopus 로고    scopus 로고
    • Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy
    • Shastry BS, Liu X, Hejtmancik JF, Plager DA, Trese MT (1997b) Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. Genomics 44:247-248
    • (1997) Genomics , vol.44 , pp. 247-248
    • Shastry, B.S.1    Liu, X.2    Hejtmancik, J.F.3    Plager, D.A.4    Trese, M.T.5
  • 30
    • 0031575703 scopus 로고    scopus 로고
    • Familial exudative vitreoretinopathy: Further evidence for genetic heterogeneity
    • Shastry BS, Trese MT (1997) Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity. Am J Med Genet 69:217-218
    • (1997) Am J Med Genet , vol.69 , pp. 217-218
    • Shastry, B.S.1    Trese, M.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.