메뉴 건너뛰기




Volumn 18, Issue 3, 1997, Pages 119-128

Ocular manifestations of autosomal recessive Alport syndrome

Author keywords

Alport syndrome; Dot and fleck retinopathy; Glomerular basement membrane; Lenticonus

Indexed keywords

ADULT; AGED; ALPORT SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EYE DISEASE; FEMALE; GENE LOCUS; GENETIC LINKAGE; GLOMERULUS BASEMENT MEMBRANE; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; KIDNEY FAILURE; LENS; MALE; NORMAL HUMAN; PRIORITY JOURNAL; RETINOPATHY;

EID: 0030708785     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819709057125     Document Type: Article
Times cited : (56)

References (43)
  • 1
    • 0002204298 scopus 로고
    • Alport syndrome
    • Schrier RW, Gottschalk CW, editors. Boston: Little, Brown and Co.
    • Atkin CL, Gregory MC, Border WA. Alport syndrome. In: Schrier RW, Gottschalk CW, editors. Diseases of the Kidney. Boston: Little, Brown and Co. 1988; 617-641.
    • (1988) Diseases of the Kidney , pp. 617-641
    • Atkin, C.L.1    Gregory, M.C.2    Border, W.A.3
  • 2
    • 0027289337 scopus 로고
    • Molecular genetics of Alport's syndrome
    • Flinter F. Molecular genetics of Alport's syndrome. Q J Med 1993; 96: 289-292.
    • (1993) Q J Med , vol.96 , pp. 289-292
    • Flinter, F.1
  • 5
    • 0020626685 scopus 로고
    • Ocular manifestations of Alport's syndrome: A hereditary disorder of basement membrane
    • Govan JAA. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membrane. Br J Ophthalmol 1983; 67: 493-503.
    • (1983) Br J Ophthalmol , vol.67 , pp. 493-503
    • Govan, J.A.A.1
  • 7
    • 0345174551 scopus 로고
    • Alport syndrome
    • Regenbogen LS, Eliahou HE, editors. Basel: Karger
    • Regenbogen LS. Alport syndrome. In: Regenbogen LS, Eliahou HE, editors. Diseases Affecting the Eye and the Kidney. Basel: Karger 1993; 10-22.
    • (1993) Diseases Affecting the Eye and the Kidney , pp. 10-22
    • Regenbogen, L.S.1
  • 9
    • 31044447532 scopus 로고
    • Macular lesions in Alport's disease
    • Polak BCP, Hogewind BL. Macular lesions in Alport's disease. Am J Ophthalmol 1989; 67: 409-414.
    • (1989) Am J Ophthalmol , vol.67 , pp. 409-414
    • Polak, B.C.P.1    Hogewind, B.L.2
  • 14
    • 0025294934 scopus 로고
    • Alport's syndrome - Ocular manifestations and unusual features
    • Copenh
    • Burke JP, Clearkin LG, Talbt JF. Alport's syndrome - ocular manifestations and unusual features. Acta Ophthalmol (Copenh) 1990; 68: 347-352.
    • (1990) Acta Ophthalmol , vol.68 , pp. 347-352
    • Burke, J.P.1    Clearkin, L.G.2    Talbt, J.F.3
  • 16
    • 84939298916 scopus 로고
    • Alport's syndrome. Clinicopathological considerations
    • Faggioni R, Scouras J, Strieff EB. Alport's syndrome. Clinicopathological considerations. Ophthalmologica 1972; 165: 1-14.
    • (1972) Ophthalmologica , vol.165 , pp. 1-14
    • Faggioni, R.1    Scouras, J.2    Strieff, E.B.3
  • 19
    • 0017884098 scopus 로고
    • Lenticonus anterior and Alport's syndrome
    • Nielsen CE. Lenticonus anterior and Alport's syndrome. Acta Ophthalmol 1978; 56: 518-530.
    • (1978) Acta Ophthalmol , vol.56 , pp. 518-530
    • Nielsen, C.E.1
  • 20
    • 0009500208 scopus 로고
    • Alport's syndrome of hereditary nephritis with deafness
    • Williamson DAJ. Alport's syndrome of hereditary nephritis with deafness. Lancet 1961; ii: 1321-1323.
    • (1961) Lancet , vol.2 , pp. 1321-1323
    • Williamson, D.A.J.1
  • 21
    • 0015421264 scopus 로고
    • Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome)
    • Hinglais N, Grunfeld JP, Bois E. Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972; 27: 473-487.
    • (1972) Lab Invest , vol.27 , pp. 473-487
    • Hinglais, N.1    Grunfeld, J.P.2    Bois, E.3
  • 24
    • 0026801049 scopus 로고
    • Molecular genetics of hereditary nephritis
    • Reeders S. Molecular genetics of hereditary nephritis. Kidney Int 1992; 42: 783-792.
    • (1992) Kidney Int , vol.42 , pp. 783-792
    • Reeders, S.1
  • 25
    • 0023753669 scopus 로고
    • Identification of the Goodpasture antigen as the alpha3(IV) chain of collagen IV
    • Saus J, Wieslander J, Langeveld JPM, Quinones S, Hudson BG. Identification of the Goodpasture antigen as the alpha3(IV) chain of collagen IV. J Biol Chem 1988; 263: 13374-13380.
    • (1988) J Biol Chem , vol.263 , pp. 13374-13380
    • Saus, J.1    Wieslander, J.2    Langeveld, J.P.M.3    Quinones, S.4    Hudson, B.G.5
  • 26
    • 0020076881 scopus 로고
    • Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis
    • McCoy RC, Johnson HK, Stone WJ, Wilson CB. Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis. Kidney Int 1982; 21: 642-652.
    • (1982) Kidney Int , vol.21 , pp. 642-652
    • McCoy, R.C.1    Johnson, H.K.2    Stone, W.J.3    Wilson, C.B.4
  • 27
    • 0023193901 scopus 로고
    • Alport familial nephritis: Absence of 28kd non-collagenous monomers of type IV collagen in glomerular basement membrane
    • Kleppel MM, Kashtan CE, Butkowski RJ, Fish AJ, Michael AF. Alport familial nephritis: absence of 28kd non-collagenous monomers of type IV collagen in glomerular basement membrane. J Clin Invest 1987; 80: 263-266.
    • (1987) J Clin Invest , vol.80 , pp. 263-266
    • Kleppel, M.M.1    Kashtan, C.E.2    Butkowski, R.J.3    Fish, A.J.4    Michael, A.F.5
  • 29
    • 0025177368 scopus 로고
    • Expression of novel basement membrane components in the developing human kidney and eye
    • Kleppel MM, Michael AF. Expression of novel basement membrane components in the developing human kidney and eye. Am J Anat 1990; 187: 165-174.
    • (1990) Am J Anat , vol.187 , pp. 165-174
    • Kleppel, M.M.1    Michael, A.F.2
  • 30
    • 0028352957 scopus 로고
    • Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome
    • Cheong HI, Kashtan CE, Kim Y, Kleppel MM, Michael AF. Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome. Lab Invest 1994; 70: 553-557.
    • (1994) Lab Invest , vol.70 , pp. 553-557
    • Cheong, H.I.1    Kashtan, C.E.2    Kim, Y.3    Kleppel, M.M.4    Michael, A.F.5
  • 31
    • 0018844840 scopus 로고
    • Uberlegungen zur Pathogenase des cochleorenalen Syndroms
    • Arnold W. Uberlegungen zur Pathogenase des cochleorenalen Syndroms. Acta Otolaryngol 1980; 89: 330.
    • (1980) Acta Otolaryngol , vol.89 , pp. 330
    • Arnold, W.1
  • 32
    • 0000660838 scopus 로고
    • Anterior lenticonus in familial haemorrhagic nephritis
    • Brownell RD, Wolter JR. Anterior lenticonus in familial haemorrhagic nephritis. Arch Ophthalmol 1964; 71: 481-483.
    • (1964) Arch Ophthalmol , vol.71 , pp. 481-483
    • Brownell, R.D.1    Wolter, J.R.2
  • 33
    • 0028007229 scopus 로고
    • An ultrastructural investigation of an early manifestation of posterior polymorphous dystrophy of the cornea
    • Sekundo W, Lee WR, Kirkness CM, Aitken DA, Fleck B. An ultrastructural investigation of an early manifestation of posterior polymorphous dystrophy of the cornea. Ophthalmology 1994; 101: 1422-1431.
    • (1994) Ophthalmology , vol.101 , pp. 1422-1431
    • Sekundo, W.1    Lee, W.R.2    Kirkness, C.M.3    Aitken, D.A.4    Fleck, B.5
  • 35
    • 0026704436 scopus 로고
    • Colocalisation of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37
    • Mariyama M, Zheng K, Yang-Feng TL, Reeders ST. Colocalisation of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 1992; 13: 809-813.
    • (1992) Genomics , vol.13 , pp. 809-813
    • Mariyama, M.1    Zheng, K.2    Yang-Feng, T.L.3    Reeders, S.T.4
  • 37
    • 0021956321 scopus 로고
    • Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
    • Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome - a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 1985; 65: 397-406.
    • (1985) Blood , vol.65 , pp. 397-406
    • Peterson, L.C.1    Rao, K.V.2    Crosson, J.T.3    White, J.G.4
  • 39
    • 31044439890 scopus 로고
    • Autosomal dominant Alport syndrome unlinked to 9 candidate genes expressed in the glomerular basement membrane
    • Jefferson JA, Hughes AE, Hill C, Maxwell AP, Doherty CC, Nevin NC. Autosomal dominant Alport syndrome unlinked to 9 candidate genes expressed in the glomerular basement membrane. J Am Soc Nephrol 1994; 5: 647A.
    • (1994) J Am Soc Nephrol , vol.5
    • Jefferson, J.A.1    Hughes, A.E.2    Hill, C.3    Maxwell, A.P.4    Doherty, C.C.5    Nevin, N.C.6
  • 41
    • 0025174012 scopus 로고
    • Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome
    • Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K. Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci USA 1990; 87: 1606-1610.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1606-1610
    • Hostikka, S.L.1    Eddy, R.L.2    Byers, M.G.3    Hoyhtya, M.4    Shows, T.B.5    Tryggvason, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.